Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Pallor... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Pallor, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Pallor, Splenomegaly, Anemia of inadequate production, Anisocytosis, Retic... |
OMIM:615631 |
Acute Myelomonocytic Leukemia |
|
Pallor, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia |
ORPHA:517 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Macrocytic anemia, Anemic pallor, Hypochro... |
OMIM:300751 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Cardiomyopathy, Dilated, 1R |
|
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... |
OMIM:613424 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Limb muscle weakness, Pallor |
ORPHA:90064 |
Beta-Thalassemia |
|
Skin ulcer, Microcytic anemia, Hypertrophic cardiomyopathy, Pallor, Splenomegaly, Abnormal hemogl... |
ORPHA:848 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Hypertrophic cardiomyopathy, Sideroblastic anemia, Pallor, Ragged-red muscle fibers, Generalized ... |
OMIM:613561 |
X-Linked Sideroblastic Anemia |
|
Anemia, Pallor, Splenomegaly |
ORPHA:75563 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Pallor, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean c... |
OMIM:615234 |
Hb Bart'S Hydrops Fetalis |
|
Pallor, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis |
ORPHA:163596 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Ventricular septal defect, Megaloblastic anemia, Atrial septal defect, Thrombocytopenia |
ORPHA:49827 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor, Torticollis |
ORPHA:71518 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growth retardation, P... |
OMIM:266200 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Generalized limb muscle atrophy, Microcytic anemia, Sideroblastic anemia, Pap... |
OMIM:600462 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... |
OMIM:612158 |
Fetal Parvovirus Syndrome |
|
Anemia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:295 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c... |
ORPHA:822 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... |
ORPHA:2133 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Diamond-Blackfan Anemia 16 |
|
Anemia, Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Leishmaniasis |
|
Skin ulcer, Pancytopenia, Leukopenia, Pallor, Splenomegaly, Abnormal macrophage morphology, Throm... |
ORPHA:507 |
Cardiomyopathy, Dilated, 1Gg |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:613642 |
Myopathic Ehlers-Danlos Syndrome |
|
Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont... |
ORPHA:536516 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Abnormal erythrocyte morphology, Pallor, Anisocytosis, Poikilo... |
ORPHA:98870 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Pallor, Elliptocytosis |
OMIM:611804 |
Evans Syndrome |
|
Pallor, Petechiae, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... |
ORPHA:1959 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... |
OMIM:601493 |
Dermatitis, Atopic |
|
Dry skin, Facial erythema, Pallor |
OMIM:603165 |
Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Pallor, Reticulocytosi... |
ORPHA:35858 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Pallor, Reticulocytosis, Decreased mean corpuscular volume, Hemolytic anemia |
OMIM:611590 |
Left Ventricular Noncompaction 1 |
|
Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop... |
OMIM:604169 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Left Ventricular Noncompaction 10 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615396 |
Primary Lateral Sclerosis, Juvenile |
|
Spasticity of facial muscles, Pallor |
OMIM:606353 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri... |
OMIM:301310 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Pallor, Megaloblastic anemia, Thrombocytopenia |
OMIM:613839 |
Congenital Heart Block |
|
Intrauterine growth retardation, Endocardial fibroelastosis, Pallor, Patent foramen ovale, Perica... |
ORPHA:60041 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Pallor, Splenomegaly, Myeloproliferative disorder... |
OMIM:254450 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Cyclic Vomiting Syndrome |
|
Pallor, Cardiomyopathy |
OMIM:500007 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Hereditary Folate Malabsorption |
|
Skeletal muscle atrophy, Pancytopenia, Pallor, Eosinophilia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased mean corpuscular hemoglobin concentration, Pallor, Splenomegaly, Increased red cell hem... |
OMIM:194380 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hepatosplenomegaly, Pallor, Reticulocytopenia, Dysplastic erythropoesis, Anisopoikilocytosis, Ane... |
ORPHA:300298 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hemat... |
ORPHA:231226 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Left Ventricular Noncompaction 8 |
|
Left ventricular noncompaction, Dilated cardiomyopathy |
OMIM:615373 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Cold Agglutinin Disease |
|
Hemolytic anemia, Splenomegaly, Pallor |
ORPHA:56425 |
Beta-Thalassemia Major |
|
Hypoplasia of the musculature, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hemat... |
ORPHA:231214 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cardiomegaly, Perimembranous ventri... |
OMIM:620135 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Petechiae, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276556 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Beta-Thalassemia Intermedia |
|
Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythr... |
ORPHA:231222 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Idiopathic Pulmonary Hemosiderosis |
|
Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276575 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Rheumatic Fever |
|
Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit... |
ORPHA:3099 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypertrophic cardiomyopathy, Pallor |
ORPHA:276580 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Pallor, Thrombocytopenia, Abnormal neutrophil count, ... |
ORPHA:3226 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Pallor, Neutropenia, Thrombocytopenia, Anemia |
OMIM:246400 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... |
OMIM:617228 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... |
OMIM:252011 |
American Trypanosomiasis |
|
Myocarditis, Pallor, Splenomegaly, Cardiomyopathy |
ORPHA:3386 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect, Th... |
ORPHA:101028 |
Aregenerative Anemia |
|
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Pallor, Abnormal proportion of... |
ORPHA:101096 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Petechiae, Neutropenia, Thromb... |
OMIM:616216 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Pallor, Chronic l... |
ORPHA:98849 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ... |
OMIM:609053 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia, Atrial septal defect |
ORPHA:51208 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... |
ORPHA:331206 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus |
OMIM:616501 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Pallor, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Anemic pallor, A... |
ORPHA:86839 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Left ventricular noncompaction, Hypertrophic cardiomyopathy |
OMIM:615917 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return |
OMIM:618313 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia, Skeletal muscle atrophy, Increased muscle glycogen content |
ORPHA:371 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Abnormality of the thenar... |
ORPHA:124 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies |
OMIM:223350 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Pearson Marrow-Pancreas Syndrome |
|
Erythema, Sideroblastic anemia, Pancytopenia, Pallor, Refractory sideroblastic anemia, Reticulocy... |
OMIM:557000 |
Fanconi Anemia, Complementation Group E |
|
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, T... |
OMIM:600901 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Sepsis In Premature Infants |
|
Leukocytosis, Splenomegaly, Pallor, Petechiae, Thrombocytopenia, Neutropenia, Anemia, Purpura |
ORPHA:90051 |
Fanconi Anemia, Complementation Group A |
|
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, T... |
OMIM:227650 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Dilated cardiomyopathy, Leukopenia, Leukocytosis, Pallor, Thrombocytosis, Anemia |
ORPHA:20 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Intrauterine growth retardation, Ventricular septal defect, Anemia, Reticulocytopen... |
OMIM:227645 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Intrauterine growth retardation, Cardiomyopathy, Neonatal death |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Neonatal death |
OMIM:618835 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Neutrophilic Dermatosis, Acute Febrile |
|
Anemia, Erythema, Dilated cardiomyopathy, Pyoderma gangrenosum |
OMIM:608068 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor |
ORPHA:439218 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Pallor, Splenomegaly, Leukemia, Abnormality of neutrophils, Purpura |
ORPHA:33226 |
Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Tendon rupture, C... |
ORPHA:85451 |
Atrial Standstill |
|
Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno... |
ORPHA:1344 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef... |
OMIM:619167 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor |
ORPHA:329971 |
Myopathy, Mitochondrial, And Ataxia |
|
Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor |
OMIM:617675 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Idiopathic Hypereosinophilic Syndrome |
|
Dilated cardiomyopathy, Skeletal muscle atrophy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis... |
ORPHA:3260 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Anemia, Pallor |
OMIM:246450 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Cardiomyopathy, Dilated, 1D |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy |
OMIM:601494 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Pallor, Thrombocytosis |
ORPHA:134 |
Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
Fanconi Anemia, Complementation Group D2 |
|
Abnormal heart morphology, Pancytopenia, Anemia, Reticulocytopenia, Anemic pallor, Neutropenia, T... |
OMIM:227646 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Ecchymosis, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Pallor, Polycythemia |
OMIM:606812 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Pituitary Apoplexy |
|
Pallor, Normochromic anemia |
ORPHA:95613 |
Von Hippel-Lindau Disease |
|
Polycythemia, Cardiomyopathy, Upper limb muscle weakness, Pallor, Distal lower limb muscle weakne... |
ORPHA:892 |
Sheehan Syndrome |
|
Dry skin, Pallor, Normochromic anemia |
ORPHA:91355 |
Degcags Syndrome |
|
Hepatosplenomegaly, Pancytopenia, Leukopenia, Intrauterine growth retardation, Patent foramen ova... |
OMIM:619488 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Pallor, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Neuroblastoma |
|
Anemia, Anemic pallor, Thrombocytopenia |
ORPHA:635 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sick Sinus Syndrome 2 |
|
Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse |
OMIM:163800 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Pallor, Cardiomyopathy |
ORPHA:2131 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Leukocytosis, Thrombocytopenia, Myocarditis, Hemolytic anemia |
ORPHA:544482 |
Incontinentia Pigmenti |
|
Erythema, Eosinophilia, Leukocytosis, Pallor |
OMIM:308300 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Abnormal pulmonary valve morphology, Splenomegaly, Pallor |
ORPHA:667 |
Naxos Disease |
|
Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly... |
OMIM:601214 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial cardiac fibrosis, Bicuspid a... |
OMIM:613426 |
Histiocytoid Cardiomyopathy |
|
Cardiomegaly, Pallor, Ventricular septal defect |
ORPHA:137675 |
Long Qt Syndrome 15 |
|
Left ventricular noncompaction |
OMIM:616249 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous... |
ORPHA:99125 |
Esophageal Atresia |
|
Tetralogy of Fallot, Pallor, Ventricular septal defect |
ORPHA:1199 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Multiple Endocrine Neoplasia Type 2 |
|
Proximal amyotrophy, Pallor |
ORPHA:653 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... |
OMIM:300967 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Muscular dystrophy, Pallor |
OMIM:253280 |
Goodpasture Syndrome |
|
Anemia, Pallor |
OMIM:233450 |
Homozygous Familial Hypercholesterolemia |
|
Myocardial steatosis, Tendon xanthomatosis, Abnormal tendon morphology |
ORPHA:391665 |
Familial Cerebral Cavernous Malformation |
|
|
ORPHA:221061 |
Cerebral Cavernous Malformations 3 |
|
|
OMIM:603285 |