| Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Pallor, Red... |
ORPHA:90039 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Pallor, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Pallor, Anisocytosis, Anemia, Poikil... |
OMIM:615631 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Nonimmune... |
OMIM:266200 |
| Autoimmune Hemolytic Anemia, Cold Type |
|
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
| Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hydrops fetalis, Polyhydramnios, Anemia,... |
ORPHA:163596 |
| Lymphatic Malformation 9 |
|
Predominantly lower limb lymphedema, Tortuous lymphatic vessels |
OMIM:619319 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
| X-Linked Sideroblastic Anemia |
|
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
| Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Hepatitis, Microcytic an... |
ORPHA:848 |
| Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Prominent superficial veins, Hype... |
OMIM:153100 |
| Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, Hepato... |
ORPHA:824 |
| Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Lymphopenia, Decreased proportion of CD3-positive T cells, Abnormal lymphati... |
ORPHA:90362 |
| Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Thrombocytopenia,... |
ORPHA:507 |
| Retinohepatoendocrinologic Syndrome |
|
Pallor, Degenerative liver disease |
OMIM:268040 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic failure, Cirrhosis, Hepatic fibrosis, Edema, Lymphangiectasis |
OMIM:602579 |
| Lymphatic Malformation 5 |
|
Predominantly lower limb lymphedema, Facial edema, Hypoplasia of lymphatic vessels |
OMIM:153200 |
| Yellow Nail Syndrome |
|
Predominantly lower limb lymphedema, Lymphedema, Hypoplasia of lymphatic vessels |
OMIM:153300 |
| Kaposiform Lymphangiomatosis |
|
Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Epidural hemorrhage, ... |
ORPHA:464329 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... |
OMIM:194380 |
| Elliptocytosis 1 |
|
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice |
OMIM:611804 |
| Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis |
OMIM:606690 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Pallor, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice |
OMIM:613839 |
| Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... |
ORPHA:231222 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Pallor, Anisocytosis, Heinz bodies, Poikilocytosis, Fava bean-induced... |
OMIM:300908 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... |
ORPHA:3226 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Retinitis Pigmentosa 42 |
|
Pallor |
OMIM:612943 |
| Kasabach-Merritt Syndrome |
|
Petechiae, Anemia, Leukopenia, Hepatic hemangioma, Abnormal lymphatic vessel morphology, Purpura,... |
ORPHA:2330 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
| Acute Peripheral Arterial Occlusion |
|
Pallor, Stroke, Leukocytosis |
ORPHA:90064 |
| Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Pallor, Extramedullary hematopoiesis, ... |
ORPHA:822 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Pulmonary lymphangiectasia, Lymphedema, Pericardial lymphangiectasia, Intestinal lymphangiectasia |
OMIM:616006 |
| Retinitis Pigmentosa 81 |
|
Pallor |
OMIM:617871 |
| Retinitis Pigmentosa 60 |
|
Pallor |
OMIM:613983 |
| Yellow Nail Syndrome |
|
Lymphedema, Biliary tract neoplasm, Hypoplasia of lymphatic vessels |
ORPHA:662 |
| Parkes Weber Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Spinal arteriovenous malformation, ... |
ORPHA:90307 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... |
ORPHA:300298 |
| Breath-Holding Spells |
|
Pallor, Iron deficiency anemia |
OMIM:607578 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Pallor, Anisocytosis, Elevated hepatic transaminase, Poikilocy... |
ORPHA:98870 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Hydrops fetalis, Poikilocytosis, Congenital hemolytic anemia,... |
ORPHA:766 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:611590 |
| Lymphangiectasia, Intestinal |
|
Lymphopenia, Pedal edema, Edema, Intestinal lymphangiectasia, Stillbirth |
OMIM:152800 |
| Optic Atrophy 9 |
|
Pallor |
OMIM:616289 |
| Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Microcytic ... |
ORPHA:846 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... |
OMIM:600462 |
| American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Pallor, Edema, Periorbital edema, Lymphadenopathy |
ORPHA:3386 |
| Evans Syndrome |
|
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Pallor, Autoimmune thrombocytope... |
ORPHA:1959 |
| Anemia, Sideroblastic, 1 |
|
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... |
OMIM:300751 |
| Retinitis Pigmentosa 27 |
|
Pallor, Macular edema |
OMIM:613750 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Pallor, Cirrhosis, Chronic hepatitis, Hepatocell... |
ORPHA:231226 |
| Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, P... |
ORPHA:231214 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Hepatomegaly, Lymphopenia, Pallor, Hepatosplenomegaly, Lymphadenitis, Eosi... |
ORPHA:331206 |
| Letterer-Siwe Disease |
|
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Chromomycosis |
|
Lymphangiectasis, Predominantly lower limb lymphedema, Lymphedema, Edema |
ORPHA:182 |
| Autoimmune Hemolytic Anemia |
|
Pallor, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:98375 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Polyhydramnios, Lymphede... |
OMIM:235255 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Pallor, Megaloblastic anemia, Thrombocytopenia, Stroke |
ORPHA:49827 |
| Myelofibrosis |
|
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly |
OMIM:254450 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Pallor, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Neutrophilia, Abnormal mast cell morphology, Splenomegaly, Pallor, Leukocytosis, Eo... |
ORPHA:98849 |
| Waldenström Macroglobulinemia |
|
Hepatomegaly, Stroke, Splenomegaly, Pallor, Normocytic anemia, Vasculitis, Abnormality of neutrop... |
ORPHA:33226 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Sideroblastic a... |
OMIM:557000 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Auditory Neuropathy And Optic Atrophy |
|
Pallor |
OMIM:617717 |
| Retinitis Pigmentosa 70 |
|
Pallor |
OMIM:615922 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reduced level of N-acetylglucosaminy... |
OMIM:224120 |
| Dermatitis, Atopic |
|
Pallor, Dry skin, Facial erythema |
OMIM:603165 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly, Focal pancreatic islet hyperplasia |
ORPHA:276575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Pallor, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopen... |
ORPHA:35858 |
| Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Thrombocytopenia, Erythroid hyp... |
ORPHA:101096 |
| Sepsis In Premature Infants |
|
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Purpura, E... |
ORPHA:90051 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia |
ORPHA:99931 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pallor, Pancreatic islet-cell hyperplasia |
ORPHA:276608 |
| Senior-Loken Syndrome 8 |
|
Intrahepatic bile duct dilatation, Pallor, Hepatic cysts, Vascular dilatation, Pancreatic cysts |
OMIM:616307 |
| Retinitis Pigmentosa 73 |
|
Pallor |
OMIM:616544 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphadenitis, Abnormality of the lymphatic system, Lymphede... |
ORPHA:2035 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Irida Syndrome |
|
Pallor, Intrahepatic cholestasis |
ORPHA:209981 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Increased circulating lactate dehyd... |
ORPHA:3203 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Pallor, Hepatomegaly |
ORPHA:324575 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia, Hepatomegaly |
OMIM:246450 |
| Myoclonus, Intractable, Neonatal |
|
Pallor |
OMIM:617235 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Thyroid lymphangiectasia, Pleural lymphangiectasia, Spina bifida occulta, Lymphedema, Intestinal ... |
OMIM:235510 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Increased hepatic glycogen... |
ORPHA:263455 |
| Idiopathic Hypereosinophilic Syndrome |
|
Pancreatitis, Neutrophilia, Vasculitis in the skin, Cervical lymphadenopathy, Portal fibrosis, Tr... |
ORPHA:3260 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... |
OMIM:265300 |
| Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hydrops fetalis, Hemolytic anemia, Poikilocytosis, ... |
ORPHA:288 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Dehydration, Leukopenia, A... |
ORPHA:20 |
| Lymphatic Malformation 6 |
|
Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetalis, Polyhydramnios... |
OMIM:616843 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Generalized edema, Lymphopenia, Intestinal lymphangiectasia |
OMIM:207731 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Anemic pallor, Abnormal mean corpuscular volume, P... |
ORPHA:86839 |
| Fumarase Deficiency |
|
Pallor, Polycythemia, Cholestasis, Hepatic failure |
OMIM:606812 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Pulmonary lymphangiectasia, Hepatosplenomegaly, Poly... |
ORPHA:1655 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Pallor |
OMIM:608423 |
| Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Pallor, Persistence of hemoglobin F, Leukopenia, ... |
ORPHA:124 |
| Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Pallor, Dehydration, Thrombocytosis, Edema |
ORPHA:134 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Pallor, Elevated hepatic transaminase, Hepatic s... |
ORPHA:348 |
| Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
| Rare Circulatory System Disease |
|
Arterial calcification, Pallor, Abnormal systemic arterial morphology, Arterial tortuosity, Vascu... |
ORPHA:98028 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Pallor, Cerebral edema |
ORPHA:439218 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia |
ORPHA:90045 |
| Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor, Autoimmune hemolytic anemia |
ORPHA:90036 |
| Non-Functioning Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:94080 |
| Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
| Plummer-Vinson Syndrome |
|
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:54028 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Pulmonary lymphangiectasia, Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Dermal transl... |
OMIM:137940 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
| Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
| Costello Syndrome |
|
Lymphangiectasis, Polyhydramnios, Webbed neck, Redundant neck skin |
OMIM:218040 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia, Anemic pallor, Edema |
ORPHA:329971 |
| Cone-Rod Dystrophy 8 |
|
Pallor, Retinal arteriolar constriction |
OMIM:605549 |
| Tay-Sachs Disease |
|
Pallor, Cherry red spot of the macula |
OMIM:272800 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Pallor, Anemia, Pulmonary artery stenosis, Lymphadenopathy |
ORPHA:667 |
| Fanconi Anemia, Complementation Group I |
|
Pallor, Neutropenia |
OMIM:609053 |
| Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Pallor, Coarctation of aorta, Thrombocytosis, Neutropenia, Webbed ... |
OMIM:105650 |
| Hennekam Syndrome |
|
Arteriovenous malformation, Lymphangioma, Lymphopenia, Chylothorax, Splenomegaly, Pulmonary lymph... |
ORPHA:2136 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Rheumatic Fever |
|
Pallor, Erythema |
ORPHA:3099 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Annular pancreas, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Neonatal death, Tetralog... |
OMIM:265380 |
| Fanconi Anemia, Complementation Group E |
|
Neutropenia, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:600901 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Stroke, Pallor, Polycythemia, Macular edema, Pancreatic cysts, Pancreat... |
ORPHA:892 |
| Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Neutropenia, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Pancyto... |
OMIM:227646 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pancreatitis, Leukocytosis, Pallor, Pleural empyema, Hemolytic anemia, Edema, Generalized edema, ... |
ORPHA:544482 |
| Fanconi Anemia, Complementation Group A |
|
Neutropenia, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227650 |
| Degcags Syndrome |
|
Hepatomegaly, Congenital hypoplastic anemia, Pallor, Anemia, Abnormal spleen morphology, Hepatosp... |
OMIM:619488 |
| Histiocytoid Cardiomyopathy |
|
Pallor, Pulmonary edema, Hepatomegaly, Stroke-like episode |
ORPHA:137675 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:276621 |
| Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
| Adenohypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95512 |
| Pituitary Apoplexy |
|
Pallor, Normochromic anemia |
ORPHA:95613 |
| Fanconi Anemia, Complementation Group C |
|
Neutropenia, Anemic pallor, Thrombocytopenia, Pancytopenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227645 |
| Panhypophysitis |
|
Pallor, Normochromic anemia |
ORPHA:95513 |
| Sheehan Syndrome |
|
Pallor, Normochromic anemia, Dry skin |
ORPHA:91355 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Multiple Endocrine Neoplasia Type 2 |
|
Cervical lymphadenopathy, Neoplasm of the liver, Pallor |
ORPHA:653 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:29072 |
| Incontinentia Pigmenti |
|
Pallor, Eosinophilia, Erythema, Leukocytosis |
OMIM:308300 |
| Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
| Esophageal Atresia |
|
Pallor, Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot |
ORPHA:1199 |
| Prolactinoma |
|
Pallor |
ORPHA:2965 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Hepatomegaly,... |
ORPHA:99125 |
| Lymphangioleiomyomatosis |
|
Chylopericardium, Chylothorax, Abnormality of the lymphatic system, Lymphedema, Pulmonary lymphan... |
ORPHA:538 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor, Pericardial effusion |
ORPHA:91347 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Goodpasture Syndrome |
|
Pallor, Anemia |
OMIM:233450 |
| Tuberous Sclerosis Complex |
|
Aortic aneurysm, Pulmonary lymphangiomyomatosis, Hepatic cysts |
ORPHA:805 |
| Tuberous Sclerosis 1 |
|
Pulmonary lymphangiomyomatosis |
OMIM:191100 |
| Tuberous Sclerosis 2 |
|
Pulmonary lymphangiomyomatosis |
OMIM:613254 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema, Facial edema, Edema |
OMIM:618154 |
