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 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... |
OMIM:615631 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Pallor |
ORPHA:90064 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... |
ORPHA:2133 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Thrombocytopenia |
ORPHA:848 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... |
ORPHA:507 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... |
ORPHA:1959 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... |
OMIM:300908 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Pallor, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Thrombocytopenia, Leukocytosis, Splenomega... |
ORPHA:824 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Pallor, Poikilo... |
ORPHA:98870 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Myelofibrosis |
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Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Pallor |
OMIM:613561 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia |
OMIM:613839 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Death in childhood |
OMIM:246450 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor, Chronic lymphatic leukemia |
ORPHA:90033 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor |
ORPHA:276608 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Death in child... |
OMIM:557000 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Sepsis In Premature Infants |
|
Petechiae, Splenomegaly, Leukocytosis, Anemia, Pallor, Neutropenia, Thrombocytopenia, Purpura |
ORPHA:90051 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Neutropenia |
OMIM:609053 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia |
ORPHA:329971 |
Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Pallor |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Pallor |
ORPHA:276575 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Pallor |
ORPHA:276580 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor |
ORPHA:324575 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Abnormality of neutrophils, Splenomegaly, Pallor, Leukemia, Purpura |
ORPHA:33226 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Intrauterine growth retardat... |
OMIM:227645 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
American Trypanosomiasis |
|
Splenomegaly, Pallor |
ORPHA:3386 |
Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Leukopenia, Pallor, Thrombocytosis, Anemia |
ORPHA:20 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Beta-Ketothiolase Deficiency |
|
Thrombocytosis, Leukocytosis, Pallor |
ORPHA:134 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Pallor |
ORPHA:263455 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... |
ORPHA:3260 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Fumarase Deficiency |
|
Polycythemia, Pallor |
OMIM:606812 |
Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227646 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Pallor |
ORPHA:348 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Leukocytosis, Pallor, Thrombocytopenia |
ORPHA:544482 |
Degcags Syndrome |
|
Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem... |
OMIM:619488 |
Autosomal Recessive Malignant Osteopetrosis |
|
Splenomegaly, Pallor, Anemia |
ORPHA:667 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Von Hippel-Lindau Disease |
|
Polycythemia, Pallor |
ORPHA:892 |
Alternating Hemiplegia Of Childhood |
|
Pallor |
ORPHA:2131 |
Histiocytoid Cardiomyopathy |
|
Pallor |
ORPHA:137675 |
Esophageal Atresia |
|
Pallor |
ORPHA:1199 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor |
ORPHA:91347 |
Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
Multiple Endocrine Neoplasia Type 2 |
|
Pallor |
ORPHA:653 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Pallor |
ORPHA:99125 |