Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... |
OMIM:615631 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:613424 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Limb muscle weakness, Pallor |
ORPHA:90064 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca... |
ORPHA:848 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Hypertrophic card... |
OMIM:613561 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Megaloblastic anemia, Pallor, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Pallor |
ORPHA:71518 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Microcytic anemia, Ragged-red muscle... |
OMIM:600462 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... |
OMIM:612158 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:824 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... |
ORPHA:507 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Cardiomyopathy, Dilated, 1Gg |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:613642 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... |
ORPHA:536516 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo... |
ORPHA:98870 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... |
OMIM:601493 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... |
OMIM:300908 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Pallor, Endocardial fibroelastosis, Intrauterine ... |
ORPHA:60041 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia |
OMIM:613839 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Hypoplasia of ... |
ORPHA:231214 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615373 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Rheumatic Fever |
|
Pericarditis, Abnormal heart valve morphology, Myocarditis, Aplasia/Hypoplasia of the abdominal w... |
ORPHA:3099 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Iron deficiency anemia, Pallor, Cardiomegaly |
ORPHA:99931 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventricular noncompac... |
OMIM:252011 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non... |
OMIM:617228 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
American Trypanosomiasis |
|
Myocarditis, Cardiomyopathy, Pallor, Splenomegaly |
ORPHA:3386 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Pallor, Neutropenia, Atrial septal defect, Intrauterine growth retarda... |
OMIM:609053 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Thrombocytopenia 5 |
|
Petechiae, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia... |
OMIM:616216 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia |
ORPHA:90033 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:616501 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Skeletal muscle atrophy, Anemia |
ORPHA:371 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, T... |
ORPHA:124 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
Dohle Bodies And Leukemia |
|
Secundum atrial septal defect, Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia |
OMIM:223350 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro... |
OMIM:557000 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L... |
OMIM:600901 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Thrombocytosis, Congenital hypo... |
OMIM:105650 |
Sepsis In Premature Infants |
|
Petechiae, Splenomegaly, Leukocytosis, Anemia, Pallor, Neutropenia, Thrombocytopenia, Purpura |
ORPHA:90051 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, L... |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Anemic pallor, Thrombocytopenia, Flexion contracture, Re... |
OMIM:227645 |
Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Dilated cardiomyopathy, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Neonatal death, Intrauterine growth retardation, Anemia, Cardiomyopathy |
OMIM:618839 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Dilated cardiomyopathy, Leukopenia, Pallor, Thrombocytosis, Anemia |
ORPHA:20 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Neonatal death, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia |
OMIM:618835 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura |
ORPHA:33226 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... |
ORPHA:1344 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor |
OMIM:617675 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:601494 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Neonatal death, Left ventricular hypertro... |
OMIM:619167 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Idiopathic Hypereosinophilic Syndrome |
|
Skeletal muscle atrophy, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Dilated card... |
ORPHA:3260 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Reticulocytopenia, Abnor... |
OMIM:227646 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Pallor |
ORPHA:134 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Polycythemia, Pallor |
OMIM:606812 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Ecchymosis, Thrombocytopenia |
ORPHA:88 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
Von Hippel-Lindau Disease |
|
Myocarditis, Upper limb muscle weakness, Cardiomyopathy, Pallor, Distal lower limb muscle weaknes... |
ORPHA:892 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Degcags Syndrome |
|
Diaphragmatic eventration, Pancytopenia, Ventricular septal defect, Congenital hypoplastic anemia... |
OMIM:619488 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Sick Sinus Syndrome 2 |
|
Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse |
OMIM:163800 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Alternating Hemiplegia Of Childhood |
|
Cardiomyopathy, Facial hypotonia, Pallor |
ORPHA:2131 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Myocarditis, Leukocytosis, Pallor, Thrombocytopenia |
ORPHA:544482 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pallor, Abnormal pulmonary valve morphology, Anemia |
ORPHA:667 |
Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Perimembra... |
OMIM:613426 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Pallor, Cardiomegaly |
ORPHA:137675 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
Esophageal Atresia |
|
Tetralogy of Fallot, Ventricular septal defect, Pallor |
ORPHA:1199 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor, Proximal amyotrophy |
ORPHA:653 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... |
OMIM:300967 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor, Muscular dystrophy |
OMIM:253280 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Homozygous Familial Hypercholesterolemia |
|
Abnormal tendon morphology, Tendon xanthomatosis, Myocardial steatosis |
ORPHA:391665 |
Familial Cerebral Cavernous Malformation |
|
|
ORPHA:221061 |
Cerebral Cavernous Malformations 3 |
|
|
OMIM:603285 |