| Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
| Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
| Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
| Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia |
OMIM:618310 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenylate kinase activity, Hemolytic anemia |
OMIM:612631 |
| Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia, Abnormal blood phosphate concentration |
OMIM:615361 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
| Erythrocytosis, Familial, 8 |
|
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:205950 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Erythrocytosis, Familial, 3 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
| Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
| Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia |
OMIM:153550 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
| Spastic Paraplegia And Evans Syndrome |
|
Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia |
OMIM:601608 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia |
DECIPHER:16 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
| Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
| Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
| 6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia |
ORPHA:2802 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
| Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
| Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94090 |
| Eosinophilia, Familial |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
OMIM:131400 |
| Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
| Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia |
OMIM:133180 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume |
OMIM:206100 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia |
ORPHA:32 |
| Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
| Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ... |
OMIM:300751 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Macrothrombocytopenia, Thrombocytopenia, Anemia |
OMIM:616176 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity |
OMIM:618660 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Thrombocytopenia, Monocytosis, Anemia, Neutropenia |
OMIM:620534 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia |
OMIM:615593 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia |
OMIM:620152 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia |
OMIM:601198 |
| Polycythemia Vera |
|
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Anemia, Thrombocytopenia, Macrothrombocytopenia |
OMIM:187800 |
| Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To |
|
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis |
OMIM:230450 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
| Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Chorioretinal degeneration |
OMIM:616311 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:237800 |
| Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... |
ORPHA:67044 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti... |
OMIM:615550 |
| Acute Erythroid Leukemia |
|
Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia |
ORPHA:172 |
| Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
| Hemochromatosis, Type 5 |
|
Abnormal circulating transferrin concentration, Abnormal circulating ceruloplasmin concentration,... |
OMIM:615517 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly |
OMIM:617441 |
| Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:268200 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Elevated hepatic iron concentration, Increased circu... |
OMIM:620121 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
| Spherocytosis, Type 3 |
|
Spherocytosis, Hemolytic anemia |
OMIM:270970 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly |
OMIM:608898 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,... |
OMIM:301083 |
| Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Alpha-Heavy Chain Disease |
|
Hypocalcemia |
ORPHA:100025 |
| Acute Myelomonocytic Leukemia |
|
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis |
ORPHA:517 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... |
ORPHA:766 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620126 |
| Refractory Anemia |
|
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... |
ORPHA:98826 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:620125 |
| Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... |
OMIM:133100 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia |
OMIM:179800 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:618618 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia |
OMIM:612526 |
| 2P21 Microdeletion Syndrome |
|
Hypocalcemia |
ORPHA:163693 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia |
OMIM:170500 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Anisocytosis, Splenomeg... |
OMIM:615631 |
| Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis |
OMIM:266140 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
| Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia |
OMIM:141000 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia |
OMIM:609153 |
| Thrombocytopenia 5 |
|
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... |
OMIM:616216 |
| Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Anemia, Leukemia, Neutropenia |
OMIM:614082 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia |
OMIM:620481 |
| Spherocytosis, Type 5 |
|
Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal... |
OMIM:612690 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:203400 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia |
OMIM:615285 |
| Gracile Syndrome |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Increased... |
OMIM:603358 |
| Asplenia, Isolated Congenital |
|
Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
| Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
| Pseudohypoaldosteronism, Type Iia |
|
Hyperkalemia |
OMIM:145260 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Overhydrated Hereditary Stomatocytosis |
|
Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v... |
ORPHA:3203 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:93324 |
| Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:231900 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Morm Syndrome |
|
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior |
ORPHA:75858 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia |
ORPHA:494444 |
| Pseudohypoaldosteronism, Type Iic |
|
Hyperkalemia, Decreased circulating renin level, Hyperchloremia |
OMIM:614492 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies |
OMIM:223350 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:617970 |
| Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia |
OMIM:612527 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Autoimmune Hypoparathyroidism |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:36913 |
| Elliptocytosis 3 |
|
Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume |
OMIM:617948 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
| Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia |
ORPHA:757 |
| Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
| Pseudohypoaldosteronism, Type Iib |
|
Hyperkalemia, Hyperchloremia |
OMIM:614491 |
| Pseudohypoaldosteronism, Type Iid |
|
Hyperkalemia, Hyperchloremia |
OMIM:614495 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
| Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
| Immunodeficiency 69 |
|
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... |
OMIM:618963 |
| Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... |
OMIM:312700 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
OMIM:177735 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypocalcemia, Anorexia, Hypomagnesemia, Hypokalemia |
OMIM:175500 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia |
OMIM:618849 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
| Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
| Late-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556037 |
| Glycine Encephalopathy 1 |
|
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior |
OMIM:605899 |
| Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Polyphagia |
OMIM:606407 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
| Hypoadrenocorticism, Familial |
|
Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... |
OMIM:314050 |
| Refractory Celiac Disease |
|
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia |
ORPHA:398063 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
| Ataxia-Pancytopenia Syndrome |
|
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... |
OMIM:159550 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Cernunnos-Xlf Deficiency |
|
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia |
ORPHA:169079 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperkalemia, Papilledema, Elevated circulating creatinine concentration |
OMIM:620366 |
| Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia |
OMIM:301015 |
| Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased circulating iron concentration |
ORPHA:446 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia |
OMIM:300367 |
| Early-Onset Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:556030 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
| Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
| Pseudohypoaldosteronism, Type Iie |
|
Hyperkalemia, Hyperchloremia |
OMIM:614496 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Albers-Schönberg Osteopetrosis |
|
Optic atrophy, Hypocalcemia |
ORPHA:53 |
| Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
| Fanconi Anemia, Complementation Group T |
|
Thrombocytopenia, Anemia, Acute myeloid leukemia, Pancytopenia |
OMIM:616435 |
| Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microcytic anemia |
ORPHA:848 |
| Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany |
ORPHA:94089 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
| Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany |
OMIM:612462 |
| Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy |
|
Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l... |
OMIM:241150 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
| Spherocytosis, Type 2 |
|
Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
| Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
| Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Hyperkalemia, Elevated creatine kinase after exercise |
ORPHA:57 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypomagnesemia, Self-biting, Hypokalemia |
OMIM:618314 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Poikilocytosis, Elliptocytosis, Anisocytosis, Thrombocytopenia, Abnormal retic... |
OMIM:300835 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:618528 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Apparent Mineralocorticoid Excess |
|
Hypertensive retinopathy, Decreased circulating renin level, Hypokalemia |
OMIM:218030 |
| Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:263400 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Retinal calcification, Hypocalcemia, Papilledema, Hyperphosphatemia |
OMIM:127000 |
| Hyperkalemic Periodic Paralysis |
|
Hyperkalemia, Hyponatremia, Elevated circulating creatine kinase concentration, Hypokalemia |
ORPHA:682 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia |
OMIM:616871 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Dehydrated Hereditary Stomatocytosis |
|
Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia |
OMIM:612528 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Splenomegaly, Decreased mean corpuscul... |
OMIM:615234 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Kenny-Caffey Syndrome, Type 1 |
|
Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom... |
OMIM:235700 |
| Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia |
OMIM:614514 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia |
ORPHA:2668 |
| Fanconi Anemia, Complementation Group V |
|
Thrombocytopenia, Anemia, Neutropenia |
OMIM:617243 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
| Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:79230 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Hypokalemia |
OMIM:613345 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v... |
OMIM:616860 |
| Colchicine Poisoning |
|
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... |
ORPHA:31824 |
| Aceruloplasminemia |
|
Aceruloplasminemia, Retinal degeneration, Increased circulating ferritin concentration, Decreased... |
OMIM:604290 |
| Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly |
OMIM:607616 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
| Liddle Syndrome 2 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618114 |
| Liddle Syndrome 3 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:618126 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
| Hyperaldosteronism, Familial, Type Ii |
|
Hypokalemia |
OMIM:605635 |
| Timothy Syndrome |
|
Hypocalcemia |
OMIM:601005 |
| Immunodeficiency 21 |
|
Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu... |
OMIM:614172 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:171876 |
| Generalized Pustular Psoriasis |
|
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration |
ORPHA:247353 |
| Primary Intestinal Lymphangiectasia |
|
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia |
ORPHA:90362 |
| Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... |
ORPHA:94093 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Inappropriate laughter, Hypocalcemia |
OMIM:618476 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Elliptocytosis 1 |
|
Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
| Hemochromatosis, Neonatal |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Abnormali... |
OMIM:231100 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia |
OMIM:603552 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Optic atrophy, Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Dysphagia |
OMIM:617913 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... |
OMIM:616959 |
| Idiopathic Aplastic Anemia |
|
Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia |
ORPHA:88 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis... |
OMIM:224120 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... |
ORPHA:26793 |
| Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
| Diffuse Neonatal Hemangiomatosis |
|
Hypercalcemia |
ORPHA:2123 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
| X-Linked Agammaglobulinemia |
|
Hypocalcemia |
ORPHA:47 |
| Liddle Syndrome 1 |
|
Decreased circulating renin level, Hypokalemia |
OMIM:177200 |
| Bone Marrow Failure Syndrome 4 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:618116 |
| Rosaï-Dorfman Disease |
|
Anemia |
ORPHA:158014 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... |
OMIM:613313 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Optic atrophy, Hypocalcemia |
OMIM:259700 |
| Spherocytosis, Type 1 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:182900 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Retinal detachment, Hypocalcemia |
OMIM:607143 |
| Senior-Loken Syndrome 4 |
|
Anemia |
OMIM:606996 |
| Cholera |
|
Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
OMIM:618440 |
| Phenylketonuria |
|
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... |
OMIM:261600 |
| Mu-Heavy Chain Disease |
|
Anemia, Splenomegaly, Abnormal B cell count |
ORPHA:100024 |
| Hydatidiform Mole |
|
Anemia |
ORPHA:99927 |
| Autosomal Dominant Hypocalcemia |
|
Optic atrophy, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia |
ORPHA:428 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Thrombocytopenia, Leukopenia |
OMIM:231095 |
| Gracile Bone Dysplasia |
|
Hypocalcemia |
OMIM:602361 |
| Birk-Landau-Perez Syndrome |
|
Optic atrophy, Hyperkalemia, Increased circulating creatine kinase MB isoform |
OMIM:617595 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... |
ORPHA:411634 |
| Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Hyperferritinemia With Or Without Cataract |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Abnormal circulat... |
OMIM:600886 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia |
OMIM:170400 |
| Nephronophthisis 2 |
|
Hyperkalemia, Elevated circulating creatinine concentration |
OMIM:602088 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Thrombocytopenia, Anemia, Splenomegaly |
OMIM:615085 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia |
OMIM:143880 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Hyponatremia, Increased circulating renin level |
ORPHA:427 |
| Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Hypomagnesemia |
ORPHA:564178 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Pigmentary retinopathy |
ORPHA:746 |
| Hypokalemic Periodic Paralysis |
|
Mildly elevated creatine kinase, Episodic hypokalemia |
ORPHA:681 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
OMIM:613101 |
| Liddle Syndrome |
|
Hypokalemia |
ORPHA:526 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia |
ORPHA:28 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171420 |
| Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia, Decreased circulating renin level, Hypokalemia |
OMIM:613677 |
| Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
| Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
| Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Hyperamylasemia, Hypokalemia |
OMIM:604278 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:300971 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia |
OMIM:614732 |
| Hypophosphatasia |
|
Hypercalcemia |
ORPHA:436 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Hypertensive retinopathy, Decreased circulating renin level, Hypokalemia |
ORPHA:320 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79444 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased mean corpuscular volume, Poikilocytosis, Anisocytosis, Abnormal erythrocyte mor... |
ORPHA:98870 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Macular dystrophy, Abnormal retinal morphology on macular OCT, Polyphagia, Increased blood urea n... |
ORPHA:251004 |
| Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Increased circulat... |
OMIM:604250 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia |
OMIM:105600 |
| Non-Functioning Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia |
ORPHA:94080 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
| Rhabdoid Tumor |
|
Hypercalcemia |
ORPHA:69077 |
| Velocardiofacial Syndrome |
|
Hypocalcemia, Retinal vascular tortuosity, Aggressive behavior |
OMIM:192430 |
| Nephronophthisis 9 |
|
Anemia |
OMIM:613824 |
| Orotic Aciduria |
|
Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia... |
OMIM:258900 |
| Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
| Double Outlet Right Ventricle |
|
Hypocalcemia |
ORPHA:3426 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Bacterial Toxic-Shock Syndrome |
|
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... |
ORPHA:36234 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Thrombocytopenia, Anemia, Splenomegaly, Reticulocytosis |
OMIM:611490 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis, Hypercalcemia, Angioid streaks of the fundus |
OMIM:211900 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Polydipsia, Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
| Amed Syndrome, Digenic |
|
Anemia, Thrombocytopenia, Leukopenia, Acute myeloid leukemia |
OMIM:619151 |
| Corticosteroid-Binding Globulin Deficiency |
|
Reduced circulating cortisol-binding globulin concentration, Hypokalemia |
OMIM:611489 |
| Transaldolase Deficiency |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly |
ORPHA:101028 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Ethylene Glycol Poisoning |
|
Hypocalcemia, Hyperkalemia, Addictive alcohol use |
ORPHA:31826 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Anemia |
OMIM:613092 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Hyperbilirubinemia, Hypocalcemia, Optic disc pallor |
OMIM:259720 |
| East Syndrome |
|
Polydipsia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Salt craving |
ORPHA:199343 |
| Acute Adrenal Insufficiency |
|
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... |
ORPHA:95409 |
| Malignant Hyperthermia Of Anesthesia |
|
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise |
ORPHA:423 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... |
ORPHA:37042 |
| Hypomagnesemia 2, Renal |
|
Hypomagnesemia, Hypokalemia |
OMIM:154020 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia |
OMIM:618398 |
| Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... |
OMIM:226990 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Rod-cone dystrophy |
ORPHA:2237 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Splenomegaly |
OMIM:620296 |
| Lymphoproliferative Syndrome 1 |
|
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-... |
OMIM:613011 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Splenomegaly |
OMIM:618107 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Increased circulating iron concentration |
OMIM:602390 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Cystinosis |
|
Polydipsia, Hypokalemia, Retinopathy, Hypophosphatemia, Motor stereotypy |
ORPHA:213 |
| Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia |
OMIM:212750 |
| Familial Benign Copper Deficiency |
|
Anemia |
ORPHA:1551 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypocalcemic seizures, Hypocalcemia, Polyphagia, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:79443 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Pseudohypoparathyroidism, Type Ia |
|
Hyperphosphatemia, Hypocalcemic tetany |
OMIM:103580 |
| Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Decreased circulating renin level, Hypokalemia |
ORPHA:231580 |
| Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia, Anemia |
OMIM:618882 |
| Hypophosphatasia, Infantile |
|
Anorexia, Hypercalcemia, Elevated plasma pyrophosphate |
OMIM:241500 |
| Familial Glucocorticoid Deficiency |
|
Hyperkalemia, Hyponatremia, Anorexia |
ORPHA:361 |
| Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:606069 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia |
ORPHA:3405 |
| Overhydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia |
OMIM:185000 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
| Hyperparathyroidism, Neonatal Severe |
|
Polydipsia, Calcinosis, Hypercalcemia, Hypophosphatemia |
OMIM:239200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Familial Hyperaldosteronism Type I |
|
Polydipsia, Hypokalemia |
ORPHA:403 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Compulsive behaviors, Hypercalcemia, Motor stereotypy, Attention deficit hyperactivity disorder, ... |
ORPHA:476126 |
| Rh Deficiency Syndrome |
|
Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,... |
ORPHA:71275 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Anorexia, Hypokalemia |
OMIM:611590 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedullary hematopoiesis |
OMIM:612840 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
| Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
| Bone Marrow Failure Syndrome 5 |
|
Pure red cell aplasia, Anemia, Erythroid hypoplasia |
OMIM:618165 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypokalemia |
OMIM:602722 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Optic atrophy, Hypocalcemia, Retinal atrophy, Elevated circulating creatine kinase concentration,... |
ORPHA:2785 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Anemia, Reticulocytopenia, Dysplastic erythropoesis, Hepatosplenomegaly, Dec... |
ORPHA:300298 |
| Hypomagnesemia 3, Renal |
|
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... |
OMIM:248250 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia |
ORPHA:90791 |
| Pearson Syndrome |
|
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Dysphagia, Pigmenta... |
ORPHA:699 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
| Renal Hypoplasia, Bilateral |
|
Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Sitosterolemia 1 |
|
Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th... |
OMIM:210250 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia |
OMIM:188580 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Infantile Myofibromatosis |
|
Hypercalcemia |
ORPHA:2591 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega... |
ORPHA:100026 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
| Aceruloplasminemia |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ma... |
ORPHA:48818 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia |
OMIM:618838 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hair-pulling, Nail-biting, Hypocalcemia, Optic nerve hypoplasia, Polyphagia, Fixated interests, M... |
OMIM:620330 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic seizures, Retinal calcification, Papilledema, Hypocalcemic tetany, Hyperphosphatemia |
ORPHA:93325 |
| Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Abnormality of retinal pigmentation |
ORPHA:175 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia |
OMIM:214700 |
| Renal Tubular Acidosis Iii |
|
Hypokalemia |
OMIM:267200 |
| Ectopic Aldosterone-Producing Tumor |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231632 |
| Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S... |
ORPHA:231222 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Nail dystrophy, Anemia, Acute myeloid leukemia, Retinal dystrophy, Retinal dyspl... |
OMIM:617052 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Addison Disease |
|
Hyperkalemia, Anorexia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalc... |
ORPHA:85138 |
| Mirage Syndrome |
|
Hyperkalemia, Hyponatremia |
OMIM:617053 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased total iron binding capacity, Increased serum bile acid concentration |
OMIM:616278 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia |
OMIM:613239 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Pheochromocytoma |
|
Hypertensive retinopathy, Hypercalcemia |
OMIM:171300 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Anemia, Lymphopenia |
OMIM:620365 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
| Gitelman Syndrome |
|
Polydipsia, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Salt craving |
ORPHA:358 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hyperkalemia, Conjugated hyperbilirubinemia |
OMIM:608885 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia |
ORPHA:514 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem... |
OMIM:304790 |
| Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Hypokalemia, Increased circulating renin level, Abnormal retinal vascular morph... |
OMIM:607364 |
| Craniofacioskeletal Syndrome |
|
Hypocalcemia |
OMIM:300712 |
| Spinal Cord Injury |
|
Hypercalcemia |
ORPHA:90058 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Romano-Ward Syndrome |
|
Hypokalemia |
ORPHA:101016 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Hypokalemia |
ORPHA:251274 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Hyponatremia, Hyperkalemia |
ORPHA:544482 |
| Thymic Neuroendocrine Tumor |
|
Hypercalcemia |
ORPHA:97289 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia, Optic nerve compression |
ORPHA:667 |
| Transcobalamin Ii Deficiency |
|
Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
| Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
| Hereditary Spherocytosis |
|
Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Sphero... |
ORPHA:822 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia |
OMIM:301110 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatinine concentrati... |
OMIM:613095 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Salt craving |
OMIM:612780 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertensive retinopathy, Hypercalcemia |
ORPHA:276621 |
| Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia |
ORPHA:405 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F |
OMIM:617101 |
| Familial Hyperaldosteronism Type Ii |
|
Hypokalemia |
ORPHA:404 |
| Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Abnorm... |
ORPHA:247585 |
| Cranioectodermal Dysplasia 1 |
|
Hypocalcemia, Retinal dystrophy |
OMIM:218330 |
| Omenn Syndrome |
|
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... |
OMIM:603554 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent... |
ORPHA:231214 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
| Nephronophthisis 4 |
|
Anemia |
OMIM:606966 |
| Late-Onset Isolated Acth Deficiency |
|
Anorexia, Hyponatremia, Hypercalcemia, Hyperuricemia |
ORPHA:199299 |
| Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:231625 |
| Hennekam Syndrome |
|
Hypocalcemia |
ORPHA:2136 |
| Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Hypokalemia |
OMIM:134600 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut... |
OMIM:260400 |
| 22Q11.2 Deletion Syndrome |
|
Optic atrophy, Attention deficit hyperactivity disorder, Retinal arteriolar tortuosity, Hypocalcemia |
ORPHA:567 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Mercury Poisoning |
|
Anorexia, Hypokalemia |
ORPHA:330021 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... |
ORPHA:168558 |
| Helix Syndrome |
|
Polydipsia, Hypermagnesemia, Hypokalemia |
OMIM:617671 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Increased circulating renin level, Hyponatremia, Hyperkalemia, Abnormal circulating cholesterol c... |
ORPHA:289548 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia |
OMIM:613280 |
| Monosomy 13Q34 |
|
Hypercalcemia |
ORPHA:96168 |
| Developmental And Epileptic Encephalopathy 50 |
|
Anisopoikilocytosis, Anemia, Acanthocytosis, Schistocytosis |
OMIM:616457 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertensive retinopathy, Retinal capillary hemangioma, Hypercalcemia |
ORPHA:29072 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Decreased circulating renin level, Hypokalemia |
OMIM:615474 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula... |
OMIM:601678 |
| Liver Disease, Severe Congenital |
|
Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,... |
OMIM:619991 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Hypokalemia, Hypophosphatemia, Abnormal blood ion concentration, Pigmentary retinopathy |
ORPHA:411629 |
| Multiple Myeloma |
|
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia |
ORPHA:29073 |
| Gitelman Syndrome |
|
Polydipsia, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Salt craving |
OMIM:263800 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Hypokalemia |
ORPHA:369929 |
| Tafro Syndrome |
|
Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly |
ORPHA:457077 |
| Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Hyponatremia, Hyperkalemia, Hypercholesterolemia |
ORPHA:275761 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Hemorrhagic Fever-Renal Syndrome |
|
Hyperkalemia, Elevated circulating creatinine concentration, Agitation, Hyperphosphatemia |
ORPHA:340 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypochloremia, Hyponatremia, Hyperchloriduria, Hypokalemia |
OMIM:613090 |
| Juvenile Polyposis Syndrome |
|
Hypoalbuminemia, Hypokalemia |
OMIM:174900 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hypocalcemia, Impulsivity, Stereotypical body rocking, Hypomagnesemia, Dysphagia, Bruxism |
OMIM:619503 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Anemia |
ORPHA:329971 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia |
ORPHA:99880 |
| Kasabach-Merritt Phenomenon |
|
Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop... |
ORPHA:2330 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany |
ORPHA:83471 |
| Parathyroid Carcinoma |
|
Polydipsia, Hypercalcemia, Hypophosphatemia, Dysphagia |
ORPHA:143 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Elevated transferrin saturation, Increased circulating ferritin concentration, Abnormality of iro... |
ORPHA:465508 |
| Fanconi-Bickel Syndrome |
|
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... |
OMIM:227810 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Abnormal fear-induced behavior, Hypokalemia |
OMIM:219090 |
| Hyperthyroidism, Nonautoimmune |
|
Increased circulating thyroglobulin concentration, Hyperactivity |
OMIM:609152 |
| Lead Poisoning |
|
Anorexia, Abnormal T cell morphology, Anemia, Attention deficit hyperactivity disorder, Imbalance... |
ORPHA:330015 |
| Vipoma |
|
Anorexia, Hypercalcemia, Hypokalemia |
ORPHA:97282 |
| Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia |
OMIM:131100 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Abnormal circulating neopt... |
OMIM:612716 |
| Digeorge Syndrome |
|
Hypocalcemia, Attention deficit hyperactivity disorder |
OMIM:188400 |
| Fibrous Dysplasia Of Bone |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Gaisböck Syndrome |
|
Increased hematocrit, Increased red blood cell count, Elevated plasma cell count, Increased mean ... |
ORPHA:90041 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Optic atrophy, Self-injurious behavior, Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Charge Syndrome |
|
Hypocalcemia, Self-mutilation, Dysphagia, Retinal coloboma |
OMIM:214800 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
| Ppoma |
|
Anorexia, Hypercalcemia |
ORPHA:97278 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Cystinosis, Nephropathic |
|
Polydipsia, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased circula... |
OMIM:219800 |
| Senior-Loken Syndrome 1 |
|
Anemia |
OMIM:266900 |
| Rabson-Mendenhall Syndrome |
|
Retinopathy, Polydipsia, Increased C-peptide level, Hypokalemia |
ORPHA:769 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Hyponatremia |
OMIM:602522 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Somatostatinoma |
|
Anorexia, Hypercalcemia |
ORPHA:97283 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Optic atrophy, Hypocalcemic seizures, Optic nerve compression |
OMIM:612301 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
OMIM:202010 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Increased total iron binding capacity, Abnormal blood inorganic cation concentration, Abnormal tr... |
ORPHA:309854 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90795 |
| Osteootohepatoenteric Syndrome |
|
Increased serum bile acid concentration, Hypokalemia |
OMIM:619377 |
| Grfoma |
|
Anorexia, Hypercalcemia |
ORPHA:97261 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Narcolepsy |
OMIM:604121 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Bartter Syndrome Type 4 |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia, Hypomagnesemia |
ORPHA:89938 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Optic atrophy, Obsessive-compulsive trait, Hyperactivity, Phonic tics, Dysphagia, Motor tics, Ret... |
OMIM:234200 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyperkalemia, Hyponatremia, Hypochloremia |
ORPHA:90794 |
| Glucagonoma |
|
Anorexia, Hypercalcemia |
ORPHA:97280 |
| Adrenocortical Carcinoma |
|
Hypokalemia |
ORPHA:1501 |
| Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Incre... |
OMIM:241200 |
| Trichohepatoenteric Syndrome 1 |
|
Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentration, Hyp... |
OMIM:222470 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Elevated circulating creatinine concentration, Hypokalemia, Unconjugated hyperbilir... |
ORPHA:90038 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating renin level, Hypokalemia |
ORPHA:90793 |
| Zollinger-Ellison Syndrome |
|
Hypercalcemia |
ORPHA:913 |
| Primary Fanconi Renotubular Syndrome |
|
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... |
ORPHA:3337 |
| Johanson-Blizzard Syndrome |
|
Hypocalcemia, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration |
OMIM:243800 |
| Nelson Syndrome |
|
Optic nerve compression, Hypokalemia |
ORPHA:199244 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia |
ORPHA:276152 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hyperkalemia, Hyponatremia, Decreased circulating renin level |
OMIM:201750 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hypokalemia |
OMIM:170390 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Compulsive behaviors, Hyponatremia, Hypophosphatemia, Motor stereotypy, Attention de... |
ORPHA:534 |
| Scorpion Envenomation |
|
Increased circulating creatine kinase MB isoform, Restlessness, Increased circulating NT-proBNP c... |
ORPHA:466677 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyper... |
ORPHA:99826 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hyponatremia, Hypokalemia |
OMIM:618426 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Optic atrophy, Narcolepsy |
ORPHA:314404 |
| Williams Syndrome |
|
Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Com... |
ORPHA:904 |
| Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Compulsive behaviors, Disinhibition, Splenomegaly, Dysphagia, Hepatosplen... |
ORPHA:646 |
| Distal Renal Tubular Acidosis |
|
Polydipsia, Hypokalemia |
ORPHA:18 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Hypercalcemia |
ORPHA:652 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Hypokalemia |
ORPHA:786 |
| Proximal Renal Tubular Acidosis |
|
Bicarbonaturia, Polydipsia, Hypokalemia |
ORPHA:47159 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia |
OMIM:619573 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Narcolepsy, Polyphagia, Compulsive behaviors, Self-injurious behavior, Aggressive beh... |
ORPHA:293987 |
| Williams-Beuren Syndrome |
|
Hypercalcemia, Attention deficit hyperactivity disorder, Retinal arteriolar tortuosity, Obsessive... |
OMIM:194050 |
| Alkaptonuria |
|
Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Syndromic Diarrhea |
|
Abnormality of iron homeostasis |
ORPHA:84064 |
| Leprechaunism |
|
Increased circulating renin level, Hypokalemia |
ORPHA:508 |
| Sarcoidosis |
|
Hypercalcemia |
ORPHA:797 |
| African Trypanosomiasis |
|
Optic neuritis, Alopecia, Papilledema, Hepatosplenomegaly, Splenomegaly, Narcolepsy, Aggressive b... |
ORPHA:3385 |
| Sotos Syndrome |
|
Attention deficit hyperactivity disorder, Hypercalcemia, Aggressive behavior |
ORPHA:821 |
| Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia |
ORPHA:91347 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypokalemia |
ORPHA:286 |
