Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Venous insuffic... |
ORPHA:568051 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, Pallor, Anemia,... |
ORPHA:163596 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Lymphatic Malformation 9 |
|
Tortuous lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:619319 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Lymphatic Malformation 1 |
|
Prominent superficial veins, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Hypo... |
OMIM:153100 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, ... |
ORPHA:90362 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... |
ORPHA:507 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Petechiae, Portal hyper... |
ORPHA:824 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Edema, Hepatic fibrosis, Cirrhosis, Hepatic failure, Lymphangiectasis |
OMIM:602579 |
Lymphatic Malformation 5 |
|
Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema |
OMIM:153200 |
Yellow Nail Syndrome |
|
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema |
OMIM:153300 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphat... |
ORPHA:464329 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Lymphangioleiomyomatosis |
|
Pulmonary lymphangiomyomatosis |
OMIM:606690 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Pallor, Poikilocytosis, Prol... |
OMIM:300908 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Lymphedema, Splenomegaly, Leukocytosis, Lymphadenopathy,... |
ORPHA:3226 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, H... |
ORPHA:2330 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pallor |
OMIM:613561 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Stroke, Pallor |
ORPHA:90064 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Pa... |
OMIM:613839 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Intestinal lymphangiectasia, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Lymphedema |
OMIM:616006 |
Yellow Nail Syndrome |
|
Biliary tract neoplasm, Hypoplasia of lymphatic vessels, Lymphedema |
ORPHA:662 |
Parkes Weber Syndrome |
|
Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid hemorrhage, V... |
ORPHA:90307 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Abnormal ery... |
ORPHA:766 |
Lymphangiectasia, Intestinal |
|
Edema, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia |
OMIM:152800 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:3386 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Lymphangiectasis, Edema, Lymphedema |
ORPHA:182 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Stroke, Pallor, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenome... |
OMIM:235255 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Periorbital edema, Splenomegaly, Vas... |
ORPHA:33226 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic leukemia, Pallor |
ORPHA:90033 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro... |
OMIM:557000 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Hydrops fetalis, Peripheral edema, Pallor, Pleura... |
ORPHA:60041 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase... |
OMIM:224120 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Sepsis In Premature Infants |
|
Hepatomegaly, Petechiae, Edema, Splenomegaly, Jaundice, Leukocytosis, Thrombocytopenia, Decreased... |
ORPHA:90051 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Pallor, Neutropenia, Decr... |
ORPHA:101096 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Iron deficiency anemia, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Irida Syndrome |
|
Intrahepatic cholestasis, Pallor |
ORPHA:209981 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
Senior-Loken Syndrome 8 |
|
Hepatic cysts, Pancreatic cysts, Pallor, Intrahepatic bile duct dilatation, Vascular dilatation |
OMIM:616307 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Lymphadenitis, Abnormality of the lymphatic syst... |
ORPHA:2035 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Thyroid lymphangiectasia, Lymphedema, Pe... |
OMIM:235510 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Iron deficiency anemia, Thrombocytosis, Intestinal lymphangiectasia, Ascites... |
OMIM:226300 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor, Anemia |
OMIM:246450 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Intracranial hemorrhage, Pallor, Neutrophilia, Leukocyt... |
ORPHA:3260 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Leukocytosis, L... |
ORPHA:20 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... |
ORPHA:263455 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Intestinal lymphangiectasia, Lymphopenia, Generalized edema |
OMIM:207731 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Abnormal me... |
ORPHA:86839 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Redundant neck skin, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pul... |
ORPHA:1655 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Radial artery aplasia, Nonimmune hydrops fetalis, Pure red cell aplasia, ... |
ORPHA:124 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Edema, Leukocytosis, Dehydration, Pallor, Thrombocytosis |
ORPHA:134 |
Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
Cyclic Vomiting Syndrome |
|
Pallor |
OMIM:500007 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Fumarase Deficiency |
|
Decreased fumarate hydratase activity, Polyhydramnios, Intrahepatic cholestasis, Ascites, Pallor,... |
OMIM:606812 |
Non-Functioning Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:94080 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Pulmonary lymphangiectasia, Dermal transl... |
OMIM:137940 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Pulmonary lymphangiectasia, Lymphedema |
OMIM:247410 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemic pallor, Anemia, Edema |
ORPHA:329971 |
Costello Syndrome |
|
Redundant neck skin, Lymphangiectasis, Polyhydramnios, Webbed neck |
OMIM:218040 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Coarctation of aorta, Persis... |
OMIM:105650 |
Tay-Sachs Disease |
|
Cherry red spot of the macula, Pallor |
OMIM:272800 |
Cone-Rod Dystrophy 8 |
|
Retinal arteriolar constriction, Pallor |
OMIM:605549 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Pulmonary artery stenosis, Lymphadenopathy, Pallor, Anemia |
ORPHA:667 |
Fanconi Anemia, Complementation Group I |
|
Pallor, Neutropenia |
OMIM:609053 |
Hennekam Syndrome |
|
Lymphedema, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetalis, Lymp... |
ORPHA:2136 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Rheumatic Fever |
|
Erythema, Pallor |
ORPHA:3099 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:600901 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Macular edema, Stroke,... |
ORPHA:892 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Nonimmune hydrops fetalis, Polyhydramnios, Asplenia, Pulmonary arter... |
OMIM:265380 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Anemic pallor, Thrombocytopenia, Patent ductus arteriosus, Reticulocytopenia, Leuke... |
OMIM:227646 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Edema, Leukocytosis, Pleural empyema, Pallor, Pancreatitis, Thrombocytopenia, G... |
ORPHA:544482 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227650 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pulmonary edema, Pallor, Stroke-like episode |
ORPHA:137675 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:276621 |
Degcags Syndrome |
|
Hepatomegaly, Pancytopenia, Polyhydramnios, Congenital hypoplastic anemia, Patent ductus arterios... |
OMIM:619488 |
Adenohypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95512 |
Non-Functioning Pituitary Adenoma |
|
Pallor, Anemia of inadequate production |
ORPHA:91349 |
Panhypophysitis |
|
Normochromic anemia, Pallor |
ORPHA:95513 |
Pituitary Apoplexy |
|
Normochromic anemia, Pallor |
ORPHA:95613 |
Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Anemic pallor, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:227645 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Sheehan Syndrome |
|
Normochromic anemia, Dry skin, Pallor |
ORPHA:91355 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor, Cerebral hemorrhage |
ORPHA:29072 |
Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Cervical lymphadenopathy, Pallor |
ORPHA:653 |
Incontinentia Pigmenti |
|
Leukocytosis, Erythema, Eosinophilia, Pallor |
OMIM:308300 |
Esophageal Atresia |
|
Tetralogy of Fallot, Pallor, Polyhydramnios, Coarctation of aorta |
ORPHA:1199 |
Alternating Hemiplegia Of Childhood |
|
Pallor, Dehydration |
ORPHA:2131 |
Prolactinoma |
|
Pallor |
ORPHA:2965 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pulmonary artery stenosis, Patent ductus arteriosus, Hypoplastic aortic arch, Supra... |
ORPHA:99125 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Pallor |
ORPHA:91347 |
Lymphangioleiomyomatosis |
|
Lymphedema, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Chylothorax, ... |
ORPHA:538 |
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, Hepatic cysts, Pulmonary lymphangiomyomatosis |
ORPHA:805 |
Tuberous Sclerosis 1 |
|
Pulmonary lymphangiomyomatosis |
OMIM:191100 |
Tuberous Sclerosis 2 |
|
Pulmonary lymphangiomyomatosis |
OMIM:613254 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Polyhydramnios, Lymphedema |
OMIM:618154 |