Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Diabetes mellitus, Insulin ... |
OMIM:612526 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... |
ORPHA:98826 |
Intellectual Developmental Disorder, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:618883 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Elevated transferrin saturation, Incre... |
OMIM:604250 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures |
ORPHA:94090 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Arrhythmia, Hyponatremia, Neutropenia |
OMIM:616949 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Increased proportion of HLA DR+ ... |
ORPHA:398063 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder |
OMIM:617863 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Tooth abscess, Hypophosphatemia, Hypocalcemia, Iron deficiency anemia |
ORPHA:89937 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:203330 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly |
OMIM:619658 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... |
ORPHA:90044 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly |
ORPHA:172 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Wolfram Syndrome, Mitochondrial Form |
|
Megaloblastic anemia, Sideroblastic anemia, Neutropenia, Diabetes mellitus, Thrombocytopenia |
OMIM:598500 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:2239 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Colchicine Poisoning |
|
Hypomagnesemia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Leukocytosis, Hypovolemia, Arrhythmi... |
ORPHA:31824 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Incr... |
ORPHA:98870 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... |
OMIM:614470 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Type I diabetes mellitus... |
OMIM:620044 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia |
OMIM:229050 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Immunodeficiency 46 |
|
Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Timothy Syndrome |
|
Hypoglycemia, Hypocalcemia, Prolonged QT interval, Bradycardia |
OMIM:601005 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
X-Linked Agammaglobulinemia |
|
Hypocalcemia, Neutropenia, Anemia, Thrombocytopenia, Recurrent cutaneous abscess formation |
ORPHA:47 |
Autoimmune Hypoparathyroidism |
|
Abnormal left ventricular function, Hypocalcemia, Ventricular arrhythmia, Hypocalcemic tetany, Hy... |
ORPHA:36913 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia |
ORPHA:2668 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Anemia, Hypocalcemia |
ORPHA:53 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Hyperphosphatemia |
OMIM:603233 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Hypophosphatemic rickets, Hypophosphatemia, Glycosuria |
OMIM:618913 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypomagnesemia, Hypocalcemia, Hypokalemia, Hematochezia, Anemia |
OMIM:175500 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Type I diabetes mellitus, Transient neutropenia |
OMIM:619707 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy |
ORPHA:79312 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Kenny-Caffey Syndrome, Type 1 |
|
Anemia, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
Rhabdoid Tumor |
|
Hypercalcemia, Internal hemorrhage, Hypertension, Anemia, Thrombocytopenia |
ORPHA:69077 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Hyperuricemia, Neutropenia |
OMIM:617056 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypomagnesemia, Hypokalemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Cerebellar hemorrhage, Hyperammonemia, Leukopenia, Hypoglycemia, Hyperglycinemia, Methylmalonic a... |
OMIM:251000 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hyperphosphatemia, Increased proinsulin:insulin ratio, Hypercalcemia |
ORPHA:94086 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:251900 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Hypophosphatemia, Glycosuria, Impaired glucose tolerance, Hypertrigly... |
ORPHA:2088 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, ... |
ORPHA:848 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Hyperparathyroidism, Neonatal Severe |
|
Hypophosphatemia, Splenomegaly, Hypercalcemia, Calcinosis, Anemia |
OMIM:239200 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria |
OMIM:613388 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia |
ORPHA:289916 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158061 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Primary Intestinal Lymphangiectasia |
|
Hypomagnesemia, Hypocalcemia, Lymphopenia, Hypoproteinemia, Reduced proportion of CD4+ effector m... |
ORPHA:90362 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Hyperammonemia, Pancytopenia, Hypoglycemia, Hyperglycinemia, Neutropenia, ... |
OMIM:606054 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, Reticulocytop... |
ORPHA:88 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypocalcemia, Hypoproteinemia, Hyperammonemia, Hypoketotic hypoglycemia, Tachycardia, Arrhythmia,... |
ORPHA:26793 |
Slc35A1-Cdg |
|
Pulmonary hemorrhage, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Familial Isolated Hyperparathyroidism |
|
Infantile hypercalcemia, Hypophosphatemia, Hypercalcemia |
ORPHA:99879 |
Necrotizing Enterocolitis |
|
Leukocytosis, Hypotension, Shock, Abnormal glucose homeostasis, Neutropenia, Hyponatremia, Thromb... |
ORPHA:391673 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... |
ORPHA:35858 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Arrhythmia, Hemolytic anemia, Abnormal electrophysiol... |
ORPHA:398124 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259700 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Elevated circulating creatine kinase ... |
OMIM:619743 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypoglycemia, Diabetes mellitus, Hypouricemia |
OMIM:616026 |
Neuroleptic Malignant Syndrome |
|
Hypomagnesemia, Hypocalcemia, Leukocytosis, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotens... |
ORPHA:94093 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia |
ORPHA:79477 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Prolonged QT interval, Hypocalcemic seizures |
ORPHA:94089 |
Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, B lymphocytopenia, Decreased proportion ... |
OMIM:619705 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Steatorrhea, Neutropenia |
OMIM:618752 |
Kenny-Caffey Syndrome, Type 2 |
|
Anemia, Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia |
OMIM:127000 |
3-Methylglutaconic Aciduria, Type Viii |
|
Bradycardia, Neutropenia |
OMIM:617248 |
Orthostatic Hypotension 2 |
|
Hypoglycemia, Orthostatic hypotension, Anemia |
OMIM:618182 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Thrombocytopenia, Hyper... |
OMIM:614857 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:134600 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Myocarditis, Abnormal macrophage morphology, Hypotensio... |
ORPHA:292 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Hypocalcemia, Abscess, Tachycardia, Elevated circulating c... |
ORPHA:36234 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Pearson Syndrome |
|
Hypomagnesemia, Neutropenia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Splenomegaly, Steatorrh... |
ORPHA:699 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Hypotension, Thromb... |
ORPHA:98850 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Cystinosis |
|
Hypophosphatemia, Type I diabetes mellitus, Portal hypertension, Hypokalemia |
ORPHA:213 |
Specific Granule Deficiency 2 |
|
Thrombocytopenia, Anemia, Absent neutrophil specific granules, Neutropenia |
OMIM:617475 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypercalcemia, Hypermagnesemia, Renal hypophosphatemia |
ORPHA:94059 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, Hypocalcemia, Splenomegaly,... |
ORPHA:37042 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Hypophosphatasia |
|
Anemia, Hypercalcemia |
ORPHA:436 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Barth Syndrome |
|
Granulocytopenia, Tricuspid regurgitation, Arrhythmia, Hypochromic microcytic anemia, Increased l... |
OMIM:302060 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Renal Tubular Acidosis, Distal, 1 |
|
Elevated circulating creatinine concentration, Hypokalemia, Hypocalcemia |
OMIM:179800 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Celiac Disease, Susceptibility To, 1 |
|
Hypocalcemia, Steatorrhea, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Type I diab... |
OMIM:212750 |
Cholera |
|
Hypokalemia, Hypocalcemia, Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia, Abnormal bl... |
ORPHA:173 |
Familial Isolated Hypoparathyroidism |
|
Hypocalcemia, Arrhythmia |
ORPHA:2238 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Gitelman Syndrome |
|
Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Abnormal T-wave, Pal... |
ORPHA:358 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Type I diabetes mellitus, Ne... |
OMIM:301078 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Tricuspid regurgitation, Mitral regurgitation, Hypoketotic hypoglycemia, Arrhythmia... |
ORPHA:746 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Anemia, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
Genetic Recurrent Myoglobinuria |
|
Hypocalcemia, Arrhythmia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia |
ORPHA:99845 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Type I diabetes mell... |
OMIM:304790 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypercalcemia |
OMIM:612089 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:241410 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hyperbilirubinemia, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepat... |
OMIM:259720 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
OMIM:619220 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hypotension, Hyperphosphatemia, ... |
OMIM:145600 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:601859 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Oculocerebrodental Syndrome |
|
Hypocalcemia, Hypercalcemia |
ORPHA:557003 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Thrombocytopenia |
OMIM:603585 |
Methylmalonic Aciduria, Cblb Type |
|
Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm... |
OMIM:251110 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:227810 |
Oculoskeletodental Syndrome |
|
Hypocalcemia, Hypercalcemia, Lacunar stroke, Splenomegaly |
OMIM:618440 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Pericarditis, Anemia, Congestive heart failure |
ORPHA:163596 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization, Neutropenia |
OMIM:180080 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617113 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Wolcott-Rallison Syndrome |
|
Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency anemia, Neonatal insulin-depen... |
ORPHA:1667 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Hypophosphatemia, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Pelger-Huet Anomaly |
|
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Late-Onset Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Orthostatic hypotension, Eosinophilia, Normocytic anemia, H... |
ORPHA:199299 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
ORPHA:540 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, T lymphocytope... |
ORPHA:572 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Methylmalonic Aciduria, Cbla Type |
|
Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropenia, Anemia, Throm... |
OMIM:251100 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... |
ORPHA:169154 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypomagnesemia, Hypocalcemia, Hematochezia, Hypertriglyceridemia, Hypoalbuminemia, Hyponatremia |
OMIM:618183 |
Gracile Bone Dysplasia |
|
Hypocalcemia, Hypoplastic spleen, Asplenia |
OMIM:602361 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating calcium concentration |
OMIM:307800 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... |
OMIM:301082 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... |
OMIM:618986 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemoglobin F, Macrocytic ... |
OMIM:612561 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Neutropenia, Hypoamylasemia, Steatorrhea, Leukopenia, Aplastic... |
ORPHA:811 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Lymphopenia, Transient ischemic attack, Abnormal proportion of naive CD4 T cells,... |
ORPHA:1830 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231222 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Methylmalonic acidemia... |
OMIM:277380 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin, Epistaxis |
ORPHA:90042 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Cerebral hemorrhage, Hypotension, Increased red blood cell mass, Increased ... |
OMIM:263400 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes |
ORPHA:464370 |
Juvenile Nephropathic Cystinosis |
|
Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypovolemia, Glycosuria, Hypocalcemic tetany, Elevat... |
ORPHA:411634 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241530 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia, Neutropeni... |
ORPHA:486 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hypomagnesemia, Hypocalcemia, Sudden cardiac death, Hypocalcemic tetany, Dilated cardiomyopathy, ... |
ORPHA:73224 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154275 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618839 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypertension, Episodic hemolytic anemia, Increased blood urea nitrogen, Hypercalcemia |
ORPHA:251004 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Hypogly... |
OMIM:618835 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hypocalcemia, Leukocytosis, Brain abscess, Hyperkalemia, Myocarditis, Hemolytic anemia, Hyponatre... |
ORPHA:544482 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
Evans Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Syncope, Autoi... |
ORPHA:1959 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Hereditary Fructose Intolerance |
|
Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia, Hypermagnesemia |
ORPHA:469 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Episodic hypokalemia, Transient hypophosphatemia, Pal... |
ORPHA:79102 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Thrombocytopenia, Neutropenia |
OMIM:246400 |
Gaisböck Syndrome |
|
Angina pectoris, Increased hematocrit, Hypovolemia, Elevated plasma cell count, Hyperproteinemia,... |
ORPHA:90041 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Neutropenia, Anemia, Thrombo... |
ORPHA:520 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Elevated circulating creatine kinase concentration, Hyperphosphatemia, Hyperkalemia |
OMIM:154276 |
Autosomal Dominant Hypocalcemia |
|
Hypomagnesemia, Hypocalcemia, Arrhythmia, Hypotension, Hyperphosphatemia, Congestive heart failure |
ORPHA:428 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Orthostatic hypotension, Hypovolemia, Normocytic anemia, Hy... |
ORPHA:95409 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypophosphatemia, Hypercalcemia, Hypermagnesemia |
OMIM:600740 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Anemia, Hypercalcemia, Intracranial hemorrhage |
OMIM:241500 |
Pyridoxal Phosphate-Responsive Seizures |
|
Abnormal circulating tyrosine concentration, Hypoargininemia, Abnormal circulating histidine conc... |
ORPHA:79096 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutrophil bacteric... |
OMIM:214500 |
Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Abnormal T-wave, Abnormal pulse pressure, ST segment depression, Elevated circulati... |
ORPHA:466650 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypophosphatemia, Hypercalcemia |
OMIM:156400 |
Mastocytosis |
|
Telangiectasia of the skin, Splenomegaly, Arrhythmia, Hypotension, Mastocytosis, Chronic leukemia... |
ORPHA:98292 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Steatorrhea, Refractor... |
OMIM:557000 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Tricuspid regurgitation, Leukopenia, B lymphocytopenia, Noncompaction cardiomyopathy... |
ORPHA:508542 |
Felty Syndrome |
|
Splenomegaly, Abnormal lymphocyte morphology, Pericarditis, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:47612 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
Transcobalamin Ii Deficiency |
|
Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia |
OMIM:275350 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:619927 |
Cartilage-Hair Hypoplasia |
|
Hypocalcemia, Neutropenia, Heart block, Anemia, Cardiomyopathy |
ORPHA:175 |
Double Outlet Right Ventricle |
|
Pulmonic stenosis, Tachycardia, Hypocalcemia, Heart murmur |
ORPHA:3426 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypocalcemia, Hypoproteinemia, Splenomegaly |
OMIM:235255 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Ta... |
ORPHA:91547 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Schimke Immunoosseous Dysplasia |
|
Transient ischemic attack, Lymphopenia, Cerebral ischemia, Thrombocytopenia, Pancytopenia, Pulmon... |
OMIM:242900 |
Mccune-Albright Syndrome |
|
Hypophosphatemia, Primary hypercortisolism, Increased circulating cortisol level, Pancytopenia |
ORPHA:562 |
Mucopolysaccharidosis-Plus Syndrome |
|
Splenomegaly, Hypertrophic cardiomyopathy, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia, Thro... |
OMIM:617303 |
3-Methylglutaconic Aciduria Type 7 |
|
Neonatal hypoglycemia, Infection associated neutropenia, Cardiomyopathy, Neutropenia |
ORPHA:445038 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypocalcemia, Hyperbilirubinemia, Intracranial hemorrhage, Heart murmur, Anemia, Thrombocytopenia |
ORPHA:163979 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Coombs-positive hemolytic anemia, Splenomeg... |
OMIM:603909 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Increased circulating ferritin concentration, Neutropenia, Vacuola... |
ORPHA:167 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Propionic Acidemia |
|
Hypoglycemia, Arrhythmia, Cardiomyopathy, Hyperammonemia |
ORPHA:35 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration, Intraventricular h... |
ORPHA:79284 |
Glycogen Storage Disease Ib |
|
Hyperlipidemia, Splenomegaly, Hypoglycemia, Hyperuricemia, Neutropenia, Hypertension, Xanthelasma |
OMIM:232220 |
Shwachman-Diamond Syndrome 1 |
|
Steatorrhea, Persistence of hemoglobin F, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Ac... |
OMIM:260400 |
Ethylene Glycol Poisoning |
|
Hypocalcemia, Tachycardia, Hypotension, Shock, Hypertension, Atrial fibrillation, Prolonged QT in... |
ORPHA:31826 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hypocalcemia, Leukopenia, Elevated circulating creatine kinase concentration, Pulmonary arterial ... |
ORPHA:2785 |
Sanjad-Sakati Syndrome |
|
Hypocalcemia, Hyperphosphatemia |
ORPHA:2323 |
Tempi Syndrome |
|
Polycythemia, Intracranial hemorrhage, Telangiectasia, Increased hematocrit |
ORPHA:284227 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hypocalcemia, Hypophosphatemia, Splenomegaly, Anemia, Pulmonary arterial hypertension |
ORPHA:667 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Hepatocellular Carcinoma |
|
Budd-Chiari syndrome, Type II diabetes mellitus, Hyperbilirubinemia, Hypokalemia, Polycythemia, H... |
ORPHA:88673 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... |
OMIM:171420 |
Pgm3-Cdg |
|
Cutaneous abscess, Abnormal proportion of CD8-positive T cells, Lymphopenia, Neutropenia in prese... |
ORPHA:443811 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
Dent Disease 1 |
|
Hypophosphatemia, Glycosuria |
OMIM:300009 |
Pseudohypoparathyroidism Type 1C |
|
Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Prolonged QT interval, Hypocalc... |
ORPHA:79444 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Hypophosphatemia, Hypokalemia, Glycosuria, Hypoglycemia, Decreased plas... |
ORPHA:3337 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... |
ORPHA:231226 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Tachycardia, H... |
ORPHA:90051 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231214 |
Fibrous Dysplasia Of Bone |
|
Hypophosphatemia, Diabetes mellitus, Hypercalcemia, Increased circulating cortisol level |
ORPHA:249 |
Purine Nucleoside Phosphorylase Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Cerebral vasculi... |
OMIM:613179 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmune thrombocytop... |
OMIM:615952 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hepatosplenomegaly, Hypocalcemia, Hypoproteinemia, Splenomegaly |
ORPHA:1655 |
Dopamine Beta-Hydroxylase Deficiency |
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Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Orthostatic sy... |
ORPHA:230 |
3-Methylglutaconic Aciduria, Type Viib |
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Leukopenia, Neutropenia, Neonatal hypoglycemia, Thrombocytopenia, Congestive heart failure |
OMIM:616271 |
Familial Hypocalciuric Hypercalcemia |
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Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Infantile hypercalcemia, Hypocalcemic sei... |
ORPHA:405 |
Diamond-Blackfan Anemia 7 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Addison Disease |
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Decreased circulating cortisol level, Orthostatic hypotension, Normocytic anemia, Hypotension, In... |
ORPHA:85138 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
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Lymphopenia, Splenomegaly, Pulmonic stenosis, Mitral regurgitation, Hypoplasia of the thymus, Mon... |
OMIM:612541 |
Fructose Intolerance, Hereditary |
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Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hypoglycemia, Bicarbonaturia, Hyperuricemia, Ga... |
OMIM:229600 |
Wiskott-Aldrich Syndrome |
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Lymphopenia, Abnormal eosinophil morphology, Hematemesis, Recurrent intrapulmonary hemorrhage, Hy... |
ORPHA:906 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Leukopenia, Aplastic anemia, Pancytopenia, Dilated cardiomyopathy, Neutropenia, Thrombocytopenia |
OMIM:613989 |
Alport Syndrome 3, Autosomal Dominant |
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Hypertension, Azotemia, Hypophosphatemia |
OMIM:104200 |
Immunodeficiency, Common Variable, 1 |
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Decreased proportion of class-switched memory B cells, Neutropenia in presence of anti-neutropil ... |
OMIM:607594 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Pseudohypoparathyroidism Type 1A |
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Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Calcinosis, Hypertension, Prolonged QT inte... |
ORPHA:79443 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypocalcemia, Hypoglycemia, Unconjugated hyperbilirubinemia, Portal hypertension, Pancytopenia, H... |
OMIM:613658 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Megaloblastic anemia, Subdural hemorrhage, Hyperammonemia, Hypomethioninemia, Elevated circulatin... |
ORPHA:79282 |
Cyclic Neutropenia |
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Lymphopenia, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thrombocytopenia, Decreased eos... |
ORPHA:2686 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Acquired Methemoglobinemia |
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Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope |
ORPHA:464453 |
Cohen Syndrome |
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Leukopenia, Neutropenia |
OMIM:216550 |
Poikiloderma With Neutropenia |
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Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia, Telang... |
OMIM:604173 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Anemia, Liver... |
ORPHA:54251 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Splenomegaly, Autoimmune thrombocytopenia, B lymphocytopenia, Decreased proportion of class-switc... |
OMIM:614700 |
Cystinosis, Nephropathic |
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Hypophosphatemic rickets, Hypomagnesemia, Hypophosphatemia, Hypokalemia, Splenomegaly, Glycosuria... |
OMIM:219800 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Conjunctival telangiectasia, Increased proportion of gamma-del... |
OMIM:619774 |
Immunodeficiency 14B, Autosomal Recessive |
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Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
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Hyperphosphatemia |
OMIM:614207 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Hypophosphatemia, Glycosuria, Hypokalemia |
ORPHA:411629 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Hyperalaninemia, Hypertrophic cardiomyopathy, Arrhythmia, Neutropenia |
OMIM:615471 |
Immunodeficiency 23 |
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Lymphopenia, Vasculitis in the skin, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia |
OMIM:615816 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Pulmonary venous hypertension, Hyperlipidemia, Abnormal myeloid leukocyte morphology, Hypoglycemi... |
ORPHA:79259 |
Cartilage-Hair Hypoplasia |
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Lymphopenia, Congenital hypoplastic anemia, Macrocytic anemia, Impaired lymphocyte transformation... |
OMIM:250250 |
Hemorrhagic Fever-Renal Syndrome |
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Melena, Hematemesis, Leukocytosis, Palpitations, Tachycardia, Intracranial hemorrhage, Hypotensio... |
ORPHA:340 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Neutropenia |
OMIM:608809 |
Autoinflammatory Disease, Systemic, X-Linked |
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Hepatosplenomegaly, Cerebral hemorrhage, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Fanconi Anemia, Complementation Group E |
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Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:600901 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Methylmalonic aci... |
OMIM:277400 |
Glycogen Storage Disease Ixc |
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Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia, Splenomegaly |
OMIM:613027 |
Developmental Delay, Hypotonia, And Impaired Language |
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Neutropenia |
OMIM:620012 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Hypercalcemia, Infantile, 1 |
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Pulmonic stenosis, Infantile hypercalcemia, Aortic valve stenosis |
OMIM:143880 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Mody |
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Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, El... |
ORPHA:552 |
Autosomal Agammaglobulinemia |
|
Neutropenia |
ORPHA:33110 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Congenital Isolated Acth Deficiency |
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Decreased circulating cortisol level, Hypotension, Hypoglycemic seizures, Hyponatremia, Neonatal ... |
ORPHA:199296 |
Small Cell Carcinoma Of The Bladder |
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Hypercalcemia |
ORPHA:284400 |
Fanconi Anemia, Complementation Group A |
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Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227650 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia |
ORPHA:99880 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia |
OMIM:239199 |
Aspergillosis |
|
Eosinophilia, Intracranial hemorrhage, Neutropenia |
ORPHA:1163 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Hypercalcemia |
OMIM:614732 |
Liver Disease, Severe Congenital |
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Increased circulating ferritin concentration, Abnormal left ventricular function, Hypocalcemia, H... |
OMIM:619991 |
Shwachman-Diamond Syndrome 2 |
|
Steatorrhea, Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Tricuspid regurgitation, Steatorrhea, Aortic regurgitation, Neutropenia, Anemia, Acute myeloid le... |
OMIM:601347 |
Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Neutropenia |
OMIM:616395 |
Leigh Syndrome |
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Hypoglycemia, Neutropenia, Hyperalaninemia, Anemia, Hypertrophic cardiomyopathy, Congestive heart... |
ORPHA:506 |
Parathyroid Carcinoma |
|
Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval, Hypercalcemia |
ORPHA:143 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypophosphatemia, Hypokalemia, Hypoammonemia, Hyperaldosteronism, Hyponatremia, Hypercholesterole... |
ORPHA:534 |
Visceral Steatosis, Congenital |
|
Hypoglycemia, Hypocalcemia |
OMIM:228100 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Aplasia of the thymus, T... |
ORPHA:83471 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Arrhythmia, Hypoglycemia, Transient hyperlipidemia, Hypertrophic cardiomyop... |
ORPHA:156 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... |
ORPHA:423 |
Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Absent plat... |
OMIM:608233 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Reticulocytosis, Neutropenia, Microangiopathic hemolytic anemia, Anemia, Thrombocytop... |
ORPHA:2330 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Somatostatinoma |
|
Increased circulating cortisol level, Steatorrhea, Hypochromic microcytic anemia, Hypercalcemia, ... |
ORPHA:97283 |
Mirage Syndrome |
|
Lymphopenia, Leukopenia, Intracranial hemorrhage, Hypoglycemia, Hypoplastic spleen, Hyponatremia,... |
OMIM:617053 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Neutropenia |
OMIM:618005 |
Glucagonoma |
|
Increased circulating cortisol level, Steatorrhea, Acanthocytosis, Hypercalcemia, Diabetes mellit... |
ORPHA:97280 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypocalcemia, Hypocalcemic seizures, Diabetes mellitus |
ORPHA:2237 |
Onychotrichodysplasia And Neutropenia |
|
Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Immunodeficiency 91 And Hyperinflammation |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophagocytosis, Hepatosple... |
OMIM:619644 |
Fanconi Anemia, Complementation Group C |
|
Thrombocytopenia, Pancytopenia, Neutropenia, Anemia, Leukemia, Reticulocytopenia |
OMIM:227645 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly |
OMIM:308230 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:614736 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Intracranial hemorrhage, Abnormal neutro... |
ORPHA:3226 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Staphylococcal Necrotizing Pneumonia |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, Hy... |
ORPHA:36238 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1930 |
Hennekam Syndrome |
|
Hypocalcemia, Lymphopenia, Splenomegaly |
ORPHA:2136 |
Eisenmenger Syndrome |
|
Angina pectoris, Supraventricular arrhythmia, Elevated circulating C-reactive protein concentrati... |
ORPHA:97214 |
Rothmund-Thomson Syndrome |
|
Telangiectasia of the skin, Aplastic anemia, Neutropenia, Calcinosis, Anemia, Leukemia |
ORPHA:2909 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:618504 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
Multiple Myeloma |
|
Splenomegaly, Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia, Anemia |
ORPHA:29073 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Vipoma |
|
Hypokalemia, Increased circulating cortisol level, Hypercalcemia, Diabetes mellitus, Normochromic... |
ORPHA:97282 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Mitral regurgitation, Thrombocytopenia, Dilated cardiomyopathy |
ORPHA:261250 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Hyperca... |
OMIM:171300 |
Igg4-Related Thyroid Disease |
|
Hypocalcemia |
ORPHA:64744 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
Acrodysostosis With Multiple Hormone Resistance |
|
Hypocalcemia, Hyperphosphatemia, Diabetes mellitus |
ORPHA:280651 |
Rothmund-Thomson Syndrome Type 1 |
|
Anemia, Aplastic anemia, Neutropenia, Calcinosis, Telangiectasia, Leukemia |
ORPHA:221008 |
Immunodeficiency 55 |
|
Neutropenia, Lymphopenia, Absent natural killer cells |
OMIM:617827 |
Dent Disease |
|
Elevated circulating creatine kinase concentration, Glycosuria, Renal hypophosphatemia |
ORPHA:1652 |
22Q11.2 Deletion Syndrome |
|
Hypocalcemia, Splenomegaly, Corneal neovascularization, Hypoplasia of the thymus, Hypertensive cr... |
ORPHA:567 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |