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 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Mental Retardation, Autosomal Recessive 2 |
|
Attention deficit hyperactivity disorder |
OMIM:607417 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Trimethylaminuria |
|
Hypertension, Neutropenia, Anemia, Tachycardia, Splenomegaly |
OMIM:602079 |
Mental Retardation, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Splenomegaly, Hypercholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia,... |
OMIM:612526 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
Refractory Anemia |
|
Abnormal cardiac ventricular function, Macrocytic anemia, Normocytic anemia, Neutropenia, Normoch... |
ORPHA:98826 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:618883 |
Hemochromatosis, Type 3 |
|
Increased serum iron, Neutropenia, Anemia, Elevated transferrin saturation, Cardiomyopathy, Incre... |
OMIM:604250 |
Alpha-Heavy Chain Disease |
|
Anemia, Hypocalcemia, Splenomegaly |
ORPHA:100025 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Attention deficit hyperactivity disorder |
OMIM:617787 |
Pseudohypoparathyroidism Type 2 |
|
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia |
ORPHA:94090 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia, Arrhythmia |
OMIM:616949 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Immunodeficiency 50 |
|
Neutropenia, Lymphopenia |
OMIM:300988 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Refractory Celiac Disease |
|
Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Iron deficiency anemia, Hypophosphatemia, ... |
ORPHA:398063 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria |
|
Attention deficit hyperactivity disorder |
OMIM:204750 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Tooth abscess, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Familial Pseudohyperkalemia |
|
Hyperkalemia, Hypertension, Increased mean corpuscular volume, Stomatocytosis, Episodic hemolytic... |
ORPHA:90044 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Epistaxis, Neutropenia |
OMIM:616216 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating gamma-aminobutyric acid concentration, Hypocalcemia, Splenomegaly |
OMIM:619658 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Progressive Familial Intrahepatic Cholestasis |
|
Hypocalcemia, Splenomegaly |
ORPHA:172 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Wolfram Syndrome, Mitochondrial Form |
|
Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, Thrombocytopenia |
OMIM:598500 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbilirubinemia, Splen... |
OMIM:616689 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia |
OMIM:613501 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
Hypophosphatemia, Renal, With Intracerebral Calcifications |
|
Renal hypophosphatemia |
OMIM:241519 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymphocytosis, Pan... |
OMIM:614470 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2239 |
Colchicine Poisoning |
|
Myocarditis, Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Cardiogenic shock, Hypoma... |
ORPHA:31824 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... |
ORPHA:98870 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Acute myeloi... |
ORPHA:158057 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Polycythemia Vera |
|
Cerebral hemorrhage, Thrombocytosis, Leukocytosis, Increased red blood cell mass, Budd-Chiari syn... |
OMIM:263300 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia |
OMIM:616740 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Timothy Syndrome |
|
Hypoglycemia, Prolonged QT interval, Bradycardia, Hypocalcemia |
OMIM:601005 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hypercalcemia, Anemia |
ORPHA:2668 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Recurrent cutaneous abscess formation, Anemia, Hypocalcemia, Thrombocytopenia |
ORPHA:47 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic tetany, Prolonged QT interval, Ventricular arrhythmia, Hypocalcemic seizures, Hypoca... |
ORPHA:36913 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Fanconi Renotubular Syndrome 5 |
|
Hypertension, Hypophosphatemia, Glycosuria, Hypophosphatemic rickets |
OMIM:618913 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia |
OMIM:306000 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia |
OMIM:616271 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Neutropenia, Anemia, Cardiomyopathy, Hyperammonemia, Splenomegaly, Thrombocytopenia |
ORPHA:79312 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Anemia, Hypomagnesemia, Hypocalcemia, Hematochezia |
OMIM:175500 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extramedullary hematopoiesi... |
OMIM:259720 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Barth Syndrome |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Neutropenia, Congestive heart failure, Granu... |
OMIM:302060 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia, Hyperuricemia |
OMIM:617056 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Rhabdoid Tumor |
|
Hypercalcemia, Hypertension, Anemia, Thrombocytopenia, Internal hemorrhage |
ORPHA:69077 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Shock, Hypoproteinemia, Neutropenia, Hypoalbuminemia |
OMIM:600351 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Anemia, Hypocalcemia |
OMIM:244460 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hypomagnesemia, Hypocalcemia, Increased circulating renin level, Hyperphosphatemia |
OMIM:601198 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Blue Diaper Syndrome |
|
Recurrent hypoglycemia, Hypercalcemia, Increased proinsulin:insulin ratio, Hyperphosphatemia |
ORPHA:94086 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:158061 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Anemia, Thrombocytopenia, Neutropenia, Hyperammonemia |
ORPHA:289916 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia |
OMIM:613502 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Elevated circulating creatine kinase concentration, Microcytic anemia, Neutropenia |
OMIM:251900 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis, Anemia, Abnormal hemoglobin, Spleno... |
ORPHA:848 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Hyperparathyroidism, Neonatal Severe |
|
Hypercalcemia, Calcinosis, Anemia, Hypophosphatemia, Splenomegaly |
OMIM:239200 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia, Glycosuria |
OMIM:613388 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Hypertriglyceride... |
ORPHA:2088 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Anemia, Hypocalcemia, Reduced proportion of CD4+ effector memory T cells, Decrea... |
ORPHA:90362 |
Idiopathic Aplastic Anemia |
|
Neutropenia, Epistaxis, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Retinal hemorr... |
ORPHA:88 |
Slc35A1-Cdg |
|
Neutropenia, Pulmonary hemorrhage, Abnormal platelet granules, Giant platelets, Thrombocytopenia |
ORPHA:238459 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Necrotizing Enterocolitis |
|
Shock, Leukocytosis, Hyponatremia, Neutropenia, Hyperglycemia, Abnormal glucose homeostasis, Brad... |
ORPHA:391673 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Hypertension, Increased red blood cell mass, Splenomegaly, Myocardial infarc... |
OMIM:133100 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity |
OMIM:608747 |
Propionic Acidemia |
|
Neutropenia, Hypoglycemia, Anemia, Cardiomyopathy, Hyperglycinemia, Hyperammonemia, Pancytopenia,... |
OMIM:606054 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Dilated cardiomyopathy, Neutropenia, Prolonged QT interval, Atrioventricular bl... |
ORPHA:398124 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Pulmonary arterial hypertension, Anemia... |
OMIM:614857 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Hypotonia-Cystinuria Syndrome |
|
Neonatal hypoglycemia, Hypocalcemia |
OMIM:606407 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Hypoproteinemia, Prolonged QT interval, Hypoketotic hypoglycemia, Elevate... |
ORPHA:26793 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Osteopetrosis, Autosomal Recessive 1 |
|
Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia |
OMIM:259700 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hyperlipidemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
ORPHA:79477 |
Neuroleptic Malignant Syndrome |
|
Hyperkalemia, Leukocytosis, Thrombocytosis, Hyponatremia, Hypertension, Hypernatremia, Elevated c... |
ORPHA:94093 |
Immunodeficiency 55 |
|
Neutropenia |
OMIM:617827 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Hypophosphatemia |
OMIM:300555 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Pseudohypoparathyroidism Type 1B |
|
Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypocalcemia, Hyperphosphatemia |
ORPHA:94089 |
Fanconi Renotubular Syndrome 1 |
|
Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:134600 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Congenital Enterovirus Infection |
|
Myocarditis, Leukocytosis, Neutropenia, Leukopenia, Anemia, Cardiomyopathy, Hyperammonemia, Abnor... |
ORPHA:292 |
Folate Malabsorption, Hereditary |
|
Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia, Bradycardia |
OMIM:617248 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Anemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Steatorrhea, Neutropenia |
OMIM:618752 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Splenomegaly, Lymphocytosis, Vasculitis, Pancytopenia, Thrombocytopenia, Aplastic an... |
OMIM:308240 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Bacterial Toxic-Shock Syndrome |
|
Myocarditis, Shock, Increased circulating myelocyte count, Elevated circulating creatine kinase c... |
ORPHA:36234 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... |
ORPHA:98850 |
Specific Granule Deficiency 2 |
|
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules |
OMIM:617475 |
Pearson Syndrome |
|
Neutropenia, Hypokalemia, Cardiac conduction abnormality, Anemia, Hypophosphatemia, Cardiomyopath... |
ORPHA:699 |
Uremic Pruritus |
|
Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen, Renal hypophosphatemia |
ORPHA:94059 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Oculogyric crisis, Bradykinesia, Broad-based gait, Attention deficit hyperactivity diso... |
OMIM:617384 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Abscess, Intermittent thrombocytopenia, S... |
OMIM:150550 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Cystinosis |
|
Portal hypertension, Hypophosphatemia, Type I diabetes mellitus, Hypokalemia |
ORPHA:213 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Decreased prealbumin level, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Ir... |
ORPHA:37042 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Familial Isolated Hypoparathyroidism |
|
Arrhythmia, Hypocalcemia |
ORPHA:2238 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Anemia of inadequate production |
OMIM:614900 |
Gitelman Syndrome |
|
Prominent U wave, Syncope, ST segment depression, Raynaud phenomenon, Type I diabetes mellitus, T... |
ORPHA:358 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Iron deficiency anemia, Steatorrhea, Type I diabetes mellitus,... |
OMIM:212750 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Oslam Syndrome |
|
Abnormality of neutrophils, Increased mean corpuscular volume |
ORPHA:2760 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hematocrit, Increased hemoglobin |
OMIM:611783 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoketotic hypoglycemia, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Congesti... |
ORPHA:746 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Increased mean corpuscula... |
ORPHA:2169 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Neutropenia, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocytopenia, Type I diabet... |
OMIM:304790 |
Cholera |
|
Hyponatremia, Hypovolemic shock, Hypoglycemia, Hypokalemia, Tachycardia, Hypocalcemia, Hypotensio... |
ORPHA:173 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Hypoglycemia, Anemia, Decreased circulating c... |
OMIM:618838 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hyperproteinemia, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration... |
ORPHA:158048 |
Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Methylmalonic Aciduria, Cblb Type |
|
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... |
OMIM:251110 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Neutropenia, Lymphopenia, Monocytosis |
ORPHA:2688 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:241410 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Tachycardia,... |
OMIM:145600 |
Poikiloderma With Neutropenia |
|
Elevated circulating creatine kinase concentration, Neutropenia, Splenomegaly |
OMIM:604173 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia |
ORPHA:1438 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia |
OMIM:610021 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia |
OMIM:227810 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Neutropenia, Leukopenia, Monocytosis, Mitral regurgitation, Hypoplasia of the thymus, Pulmonary a... |
OMIM:612541 |
Retinal Venous Beading |
|
Retinal neovascularization, Vitreous hemorrhage, Neutropenia |
OMIM:180080 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly, Congestive heart failure |
ORPHA:163596 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Aortic regurgitation, Pulmonary hemorrhage, Thrombocytopenia, Macrothrombocytopenia |
OMIM:603585 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia i... |
OMIM:619220 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia |
OMIM:615924 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity |
OMIM:619031 |
Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Autoim... |
ORPHA:572 |
Methylmalonic Aciduria, Cbla Type |
|
Neutropenia, Methylmalonic acidemia, Anemia, Hyperglycinemia, Hyperammonemia, Pancytopenia, Throm... |
OMIM:251100 |
Pelger-Huet Anomaly |
|
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... |
OMIM:169400 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Lacunar stroke, Hypocalcemia, Splenomegaly |
OMIM:618440 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
ORPHA:2643 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Hypoglycemia, Orthostatic hypo... |
ORPHA:199299 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Agammaglobulinemia 1, Autosomal Recessive |
|
B lymphocytopenia, Neutropenia |
OMIM:601495 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemia, Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide level |
ORPHA:157215 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypoalbuminemia, Hypomagnesemia, Hypertriglyceridemia, Hypocalcemia, Hematochezia |
OMIM:618183 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
ORPHA:540 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Attention deficit hyperactivity disorder |
OMIM:188570 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased red blood cell mass, Increased hematocrit, Hypotension, Increased ... |
OMIM:263400 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Lymphocyto... |
ORPHA:1667 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neutropenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Lymphocytosis, Aut... |
ORPHA:169154 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Hyperprolinemia, Type I |
|
Hyperactivity, Ataxia |
OMIM:239500 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hyperactivity |
ORPHA:85288 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
B lymphocytopenia, Neutropenia, Leukopenia, Abnormally low T cell receptor excision circle level,... |
OMIM:618986 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Schimke Immunoosseous Dysplasia |
|
Abnormal T cell morphology, Hypertension, Neutropenia, Anemia, Cerebral ischemia, Transient ische... |
OMIM:242900 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Neutropenia |
OMIM:251190 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Megaloblastic anemia,... |
OMIM:277380 |
Schimke Immuno-Osseous Dysplasia |
|
Decreased proportion of naive CD8 T cells, Hypertension, Neutropenia, Hyperlipidemia, Pulmonary a... |
ORPHA:1830 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Abnormality of iron homeostasis, Erythroid hyperplasia, Elevated hepatic iron conce... |
ORPHA:231222 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Mitral regurgitation, Persistence of hemogl... |
OMIM:612561 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypocalcemia |
OMIM:179800 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Aregenerative Anemia |
|
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Primary Familial Polycythemia |
|
Polycythemia, Epistaxis, Abnormal hemoglobin |
ORPHA:90042 |
Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hyperactivity |
OMIM:604317 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:264700 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... |
ORPHA:486 |
Evans Syndrome |
|
Syncope, Neutropenia in presence of anti-neutropil antibodies, Epistaxis, Autoimmune thrombocytop... |
ORPHA:1959 |
Morm Syndrome |
|
Hyperactivity |
ORPHA:75858 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia, Hypocalcemia |
OMIM:602361 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Tubular Renal Disease-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Hypocalcemic tetany, Hypomagnesemia, Congestive heart failure, Hyperaldos... |
ORPHA:73224 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypophosphatemia, Hypocalcemic seizures |
OMIM:277440 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyperkalemia, Leukocytosis, Hyponatremia, Myocarditis, Hypertension, Brain abscess, Hypertensive ... |
ORPHA:544482 |
Glycine Encephalopathy |
|
Hyperactivity, Lethargy |
OMIM:605899 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomyopathy, Decreas... |
OMIM:618839 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Hypoglycemia, Elevated circulating creatine kinase concentration, An... |
OMIM:618835 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241530 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Reactive hypoglycemia, Hypophosphatemia, Hyperuricemia |
ORPHA:469 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Hypercalcemia, Increased blood urea nitrogen, Hypertension |
ORPHA:251004 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Hypophosphatemia, Hypocalcemic seizures, Hypocalcemia |
ORPHA:289157 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... |
ORPHA:231154 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:307800 |
Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity |
OMIM:248510 |
Lichtenstein Syndrome |
|
Neutropenia |
OMIM:246550 |
Letterer-Siwe Disease |
|
Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia |
OMIM:246400 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Neutropenia, Leukopenia, Epistaxis, Anemia, Pancytopenia, Thrombocytopenia, Diffuse... |
ORPHA:520 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypomagnesemia, Congestive heart failure, Hypocalcemia, Arrhythmia, Hypotension |
ORPHA:428 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... |
OMIM:601775 |
Gaisböck Syndrome |
|
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Increased red blood cell count... |
ORPHA:90041 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hypervitaminosis A, Susceptibility To |
|
Hypercalcemia |
OMIM:240150 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypophosphatemia |
OMIM:600081 |
Acute Adrenal Insufficiency |
|
Hyperkalemia, Hypercalcemia, Hyponatremia, Normocytic anemia, Hypoglycemia, Orthostatic hypotensi... |
ORPHA:95409 |
Chediak-Higashi Syndrome |
|
Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia, Splenomegaly... |
OMIM:214500 |
Glycogen Storage Disease Ib |
|
Hypertension, Neutropenia, Hypoglycemia, Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232220 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... |
OMIM:618620 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Hypocalcemia |
ORPHA:352540 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Hyperhomocystinemia, Hypomethioninemia, Methylmalonic acidemia, Increased mean corpuscular volume... |
OMIM:277410 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia, Abnormal circulating threonine concentration, Hypoargininemia, Abnormal circulating... |
ORPHA:79096 |
Hypophosphatasia, Infantile |
|
Hypercalcemia, Intracranial hemorrhage, Anemia, Elevated plasma pyrophosphate |
OMIM:241500 |
Felty Syndrome |
|
Neutropenia, Pericarditis, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Thrombocytopenia |
ORPHA:47612 |
Mastocytosis |
|
Hypercalcemia, Acute leukemia, Chronic leukemia, Telangiectasia of the skin, Splenomegaly, Gastro... |
ORPHA:98292 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Exercise-Induced Malignant Hyperthermia |
|
Hyperkalemia, Abnormal T-wave, Prolonged QT interval, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Double Outlet Right Ventricle |
|
Heart murmur, Tachycardia, Pulmonic stenosis, Hypocalcemia |
ORPHA:3426 |
Thyrotoxic Periodic Paralysis |
|
Hyperkalemia, Prolonged QT interval, Episodic hypokalemia, Palpitations, Mildly elevated creatine... |
ORPHA:79102 |
Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
B lymphocytopenia, Neutropenia, Noncompaction cardiomyopathy, Leukopenia, Anemia, Tricuspid regur... |
ORPHA:508542 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... |
OMIM:612925 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Hypertension, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, A... |
OMIM:612926 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hypertrophic cardiomyopathy, Neutropenia, Leukopenia, Anemia, Splenomegaly, Congestive heart fail... |
OMIM:617303 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Hyperparathyroidism 4 |
|
Hypercalcemia |
OMIM:617343 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Hyperhomocystinemia, Neutropenia, Megaloblastic anemia, Intraventricular hemorrhage, Elevated cir... |
ORPHA:79284 |
Mccune-Albright Syndrome |
|
Pancytopenia, Primary hypercortisolism, Increased circulating cortisol level, Hypophosphatemia |
ORPHA:562 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypocalcemia |
OMIM:607143 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Transcobalamin Ii Deficiency |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Reticulocytopenia |
OMIM:275350 |
Chédiak-Higashi Syndrome |
|
Abnormal natural killer cell morphology, Hyponatremia, Hypoproteinemia, Neutropenia, Thrombocytop... |
ORPHA:167 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen... |
OMIM:260400 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:300554 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia, Splenomegaly |
OMIM:235255 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Intracranial hemorrhage, Anemia, Hyperbilirubinemia, Hypocalcemia, Thrombocytopenia, Heart murmur |
ORPHA:163979 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Hypoglycemia, Hypokalemia, Hypophosphatemia, Glycosuria, Hyperuricosuria, Decreased... |
ORPHA:3337 |
3-Methylglutaconic Aciduria Type 7 |
|
Infection associated neutropenia, Neutropenia, Cardiomyopathy, Neonatal hypoglycemia |
ORPHA:445038 |
Hyperphosphatemia, Polyuria, And Seizures |
|
Hyperphosphatemia |
OMIM:239350 |
Propionic Acidemia |
|
Hypoglycemia, Arrhythmia, Cardiomyopathy, Hyperammonemia |
ORPHA:35 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Palpitations, Congestive heart failure, Hypertension associat... |
ORPHA:94080 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Epistaxis, Anemia, Incre... |
ORPHA:91547 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia |
ORPHA:1563 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:614520 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Hyperactivity, Lethargy |
OMIM:274270 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Osteopetrosis With Renal Tubular Acidosis |
|
Leukopenia, Elevated circulating creatine kinase concentration, Pulmonary arterial hypertension, ... |
ORPHA:2785 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Congestive heart failure,... |
OMIM:171420 |
Cartilage-Hair Hypoplasia |
|
Neutropenia, Anemia, Cardiomyopathy, Heart block, Hypocalcemia |
ORPHA:175 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Hyponatremia, Hypercalcemia, Hypoglycemia, Type II diabetes mellitus, Hypokalemia... |
ORPHA:88673 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Hyperactivity, Ataxia |
OMIM:300983 |
Ethylene Glycol Poisoning |
|
Hyperkalemia, Hypertension, Shock, Prolonged QT interval, Atrial fibrillation, Tachycardia, Conge... |
ORPHA:31826 |
Tempi Syndrome |
|
Polycythemia, Telangiectasia, Intracranial hemorrhage, Increased hematocrit |
ORPHA:284227 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... |
ORPHA:443811 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Anemia, Hypophosphatemia, Splenomegaly, Hypocalcemia |
ORPHA:667 |
Fraxe Intellectual Disability |
|
Hyperactivity |
ORPHA:100973 |
Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
Dominant Beta-Thalassemia |
|
Dilated cardiomyopathy, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Persisten... |
ORPHA:231226 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypocalcemia, Hype... |
ORPHA:79444 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Dent Disease 1 |
|
Hypophosphatemia, Glycosuria |
OMIM:300009 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity |
OMIM:615541 |
Sepsis In Premature Infants |
|
Leukocytosis, Neutropenia, Anemia, Tachycardia, Bradycardia, Splenomegaly, Thrombocytopenia, Elev... |
ORPHA:90051 |
Fibrous Dysplasia Of Bone |
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Hypercalcemia, Increased circulating cortisol level, Hypophosphatemia, Diabetes mellitus |
ORPHA:249 |
Beta-Thalassemia Major |
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Dilated cardiomyopathy, Abnormality of iron homeostasis, Anisopoikilocytosis, Hypochromic microcy... |
ORPHA:231214 |
Hyperlysinemia, Type I |
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Hyperactivity |
OMIM:238700 |
Immunodeficiency 67 |
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Transient neutropenia, Liver abscess |
OMIM:607676 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Hyperactivity, Broad-based gait |
OMIM:619470 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, Increased circulating inosine... |
OMIM:613179 |
Fructose Intolerance, Hereditary |
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Hypoglycemia, Hypophosphatemia, Hyperbilirubinemia, Glycosuria, Hyperuricemia, Hyperuricosuria, G... |
OMIM:229600 |
Saul-Wilson Syndrome |
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Neutropenia |
OMIM:618150 |
Cartilage-Hair Hypoplasia |
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Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
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Neutropenia in presence of anti-neutropil antibodies, Achalasia, Hepatosplenomegaly, Autoimmune t... |
OMIM:615952 |
Ornithine Transcarbamylase Deficiency |
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Hyperammonemia, Hypoglycemia, Splenomegaly |
ORPHA:664 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Hyperactivity, Dystonia, Ataxia |
OMIM:612716 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Hyperactivity |
OMIM:300434 |
Familial Hypocalciuric Hypercalcemia |
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Hypercalcemia, Hypocalcemic seizures, Infantile hypercalcemia, Renal hypophosphatemia, Hypermagne... |
ORPHA:405 |
Mental Retardation, Autosomal Dominant 43 |
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Hyperactivity |
OMIM:616977 |
Dopamine Beta-Hydroxylase Deficiency |
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Syncope, Hypoglycemia, Insulin resistance, Orthostatic hypotension, Orthostatic syncope, Elevated... |
ORPHA:230 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypoproteinemia, Hepatosplenomegaly, Hypocalcemia, Splenomegaly |
ORPHA:1655 |
Addison Disease |
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Hyperkalemia, Hyponatremia, Hypercalcemia, Normocytic anemia, Hypoglycemia, Orthostatic hypotensi... |
ORPHA:85138 |
Diamond-Blackfan Anemia 7 |
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Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Methemoglobinemia |
OMIM:250800 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Dilated cardiomyopathy, Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidem... |
ORPHA:79282 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... |
OMIM:614700 |
Alport Syndrome 3, Autosomal Dominant |
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Hypertension, Azotemia, Hypophosphatemia |
OMIM:104200 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
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Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Cyclic Neutropenia |
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Perianal abscess, Lymphopenia, Cyclic neutropenia, Thrombocytopenia, Tooth abscess, Decreased eos... |
ORPHA:2686 |
Chromosome 3Q29 Deletion Syndrome |
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Hyperactivity, Gait ataxia |
OMIM:609425 |
Xq25 Microduplication Syndrome |
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Hyperactivity |
ORPHA:521258 |
Chromosome Xq25 Duplication Syndrome |
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Hyperactivity |
OMIM:300979 |
Wiskott-Aldrich Syndrome |
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Internal hemorrhage, Intracranial hemorrhage, Neutropenia, Acute leukemia, Hypoplasia of the thym... |
ORPHA:906 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Unconjugated hyperbilirubinemia, Hypoglycemia, Anemia, Hypocalcemia, Pancytopeni... |
OMIM:613658 |
Pseudohypoparathyroidism Type 1A |
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Hypertension, Calcinosis, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures, Hypo... |
ORPHA:79443 |
Opsismodysplasia |
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Hypophosphatemia |
OMIM:258480 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hypertension, Schistocytosis, Microangiopathic hemolytic anemia, Hyperlipidemia, Elevated circula... |
OMIM:235400 |
Cohen Syndrome |
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Neutropenia, Leukopenia |
OMIM:216550 |
Coffin-Siris Syndrome 8 |
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Hyperactivity |
OMIM:618362 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
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Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... |
ORPHA:54251 |
Lennox-Gastaut Syndrome |
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Hyperactivity, Falls |
ORPHA:2382 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
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Hypertrophic cardiomyopathy, Neutropenia, Arrhythmia, Hyperalaninemia |
OMIM:615471 |
Acquired Methemoglobinemia |
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Syncope, Palpitations, Methemoglobinemia, Tachycardia, Arrhythmia |
ORPHA:464453 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Splenomegaly, Neutropen... |
OMIM:607594 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Infantile Nephropathic Cystinosis |
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Hypophosphatemia, Glycosuria, Hypokalemia, Abnormal blood ion concentration |
ORPHA:411629 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Hyperphosphatasia With Mental Retardation Syndrome 3 |
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Hyperphosphatemia |
OMIM:614207 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
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Hyperhomocystinemia, Hypomethioninemia, Neutropenia, Methylmalonic acidemia, Cystathioninemia, Me... |
OMIM:277400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Chronic neutropenia, Hypertension, Hypoglycemia, Hyperlipidemia, Abnormal myeloid leukocyte morph... |
ORPHA:79259 |
Immunodeficiency 23 |
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Neutropenia, Abscess, Vasculitis in the skin, Lymphopenia, Eosinophilia, Hemolytic anemia |
OMIM:615816 |
Pseudohypoparathyroidism, Type Ic |
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Hypocalcemic tetany, Hyperphosphatemia |
OMIM:612462 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
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Hypercalcemia |
OMIM:614732 |
Shwachman-Diamond Syndrome 2 |
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Thrombocytopenia, Normocytic anemia, Steatorrhea, Neutropenia |
OMIM:617941 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Leukocytosis, Hypertension, Intracranial hemorrhage, Shock, Palpitations, Subconjun... |
ORPHA:340 |
Fanconi Anemia, Complementation Group E |
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Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:600901 |
Autosomal Agammaglobulinemia |
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Neutropenia |
ORPHA:33110 |
Autosomal Dominant Kenny-Caffey Syndrome |
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Hypocalcemic tetany, Anemia, Hyperphosphatemia, Hypocalcemic seizures |
ORPHA:93325 |
Blackfan-Diamond Anemia |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Hypercalcemia, Hyperphosphatemia |
OMIM:617994 |
Alazami-Yuan Syndrome |
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Hyperactivity |
OMIM:617126 |
Hypercalcemia, Infantile, 1 |
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Aortic valve stenosis, Infantile hypercalcemia, Pulmonic stenosis |
OMIM:143880 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly |
OMIM:308230 |
Congenital Isolated Acth Deficiency |
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Hyponatremia, Neonatal hypoglycemia, Hypoglycemic seizures, Hypotension, Decreased circulating co... |
ORPHA:199296 |
Fanconi Anemia, Complementation Group A |
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Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227650 |
Aspergillosis |
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Eosinophilia, Intracranial hemorrhage, Neutropenia |
ORPHA:1163 |
Small Cell Carcinoma Of The Bladder |
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Hypercalcemia |
ORPHA:284400 |
Glycogen Storage Disease Ixc |
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Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
Pseudohypoparathyroidism, Type Ia |
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Hypocalcemic tetany, Hyperphosphatemia |
OMIM:103580 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
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Hypercalcemia |
OMIM:239199 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
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Neutropenia |
OMIM:608809 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval |
ORPHA:99880 |
Optic Atrophy 11 |
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Dysmetria, Hyperactivity, Ataxia |
OMIM:617302 |
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
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Neutropenia, Aortic regurgitation, Anemia, Tricuspid regurgitation, Acute myeloid leukemia, Steat... |
OMIM:601347 |
Neonatal Alloimmune Neutropenia |
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Maternal diabetes, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Parathyroid Carcinoma |
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Hypercalcemia, Infantile hypercalcemia, Hypophosphatemia, Shortened QT interval |
ORPHA:143 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypokalemia, Anemia, Hypophosphatemia, Hypercholesterolemia, Hyperaldosteronism, Th... |
ORPHA:534 |
Raine Syndrome |
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Hypophosphatemia |
OMIM:259775 |
Visceral Steatosis, Congenital |
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Hypoglycemia, Hypocalcemia |
OMIM:228100 |
Leigh Syndrome |
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Hypertrophic cardiomyopathy, Neutropenia, Hypoglycemia, Anemia, Hyperalaninemia, Congestive heart... |
ORPHA:506 |
Thymic Aplasia |
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Hypocalcemic tetany, Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Apl... |
ORPHA:83471 |
Hermansky-Pudlak Syndrome 2 |
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Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Splenomegaly, Redu... |
OMIM:608233 |
Kasabach-Merritt Syndrome |
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Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... |
ORPHA:2330 |
Mody |
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Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemic hypoglycemia, Glucose intole... |
ORPHA:552 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
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Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Carnitine Palmitoyl Transferase 1A Deficiency |
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Hypertrophic cardiomyopathy, Hypoglycemia, Sudden cardiac death, Transient hyperlipidemia, Arrhyt... |
ORPHA:156 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Syncope, Normocytic anemia, Normochromic anemia, Chroni... |
ORPHA:98849 |
Guanidinoacetate Methyltransferase Deficiency |
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Hyperactivity, Dystonia, Athetosis, Ataxia |
ORPHA:382 |
Onychotrichodysplasia And Neutropenia |
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Chronic neutropenia, Lymphocytosis, Neutropenia |
OMIM:258360 |
Malignant Hyperthermia Of Anesthesia |
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Hyperkalemia, Premature ventricular contraction, Ventricular tachycardia, Supraventricular tachyc... |
ORPHA:423 |
Somatostatinoma |
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Hypercalcemia, Hypochromic microcytic anemia, Increased circulating cortisol level, Gastrointesti... |
ORPHA:97283 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
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Hypoglycemia, Neutropenia |
OMIM:618005 |
Phenylketonuria |
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Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:261600 |
Immunodeficiency 91 And Hyperinflammation |
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Monocytosis, Pulmonary hemorrhage, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated c... |
OMIM:619644 |
Glucagonoma |
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Hypercalcemia, Acanthocytosis, Increased circulating cortisol level, Normochromic anemia, Gastroi... |
ORPHA:97280 |
Calciphylaxis |
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Hyperphosphatemia |
ORPHA:280062 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Diabetes mellitus, Hypocalcemic seizures, Hypocalcemia |
ORPHA:2237 |
Fanconi Anemia, Complementation Group C |
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Neutropenia, Leukemia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:227645 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hyperactivity, Ataxia, Broad-based gait |
ORPHA:411515 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:618504 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyperkalemia, Hyponatremia, Hypoglycemia |
OMIM:614736 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Intracranial hemorrhage, Acute leukemia, Splenomegaly, Myeloproliferative disorder,... |
ORPHA:3226 |
Fanconi Anemia, Complementation Group I |
|
Neutropenia |
OMIM:609053 |
Gand Syndrome |
|
Hyperactivity |
OMIM:615074 |
Mirage Syndrome |
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Hyperkalemia, Hyponatremia, Intracranial hemorrhage, Hypoglycemia, Leukopenia, Anemia, Achalasia,... |
OMIM:617053 |
Rothmund-Thomson Syndrome |
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Calcinosis, Neutropenia, Leukemia, Anemia, Telangiectasia of the skin, Aplastic anemia |
ORPHA:2909 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Leukocytosis, Leukopenia, Neutrophilia, Diabetes mellitus, Elevated circulating C-reactive... |
ORPHA:36238 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Hyponatremia |
ORPHA:1930 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Hypercalcemia, Palpitations, Congestive heart failure, Hypertension associat... |
ORPHA:276621 |