Thrombocythemia 2 |
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Thrombocytosis |
OMIM:601977 |
Immunodeficiency 69 |
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Anemia, Hemophagocytosis, Thrombocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenom... |
OMIM:618963 |
Thrombocythemia 1 |
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Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... |
OMIM:187950 |
Dehydrated Hereditary Stomatocytosis 2 |
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Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu... |
OMIM:616689 |
Thrombocythemia 3 |
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Thrombocytosis |
OMIM:614521 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Thrombocytosis, Asplenia |
OMIM:271400 |
Juvenile Arthritis |
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Thrombocytosis, Leukocytosis |
OMIM:618795 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Polycythemia Vera |
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Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... |
ORPHA:75564 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... |
OMIM:618858 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
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Elevated circulating C-reactive protein concentration, Pancytopenia, Hepatosplenomegaly, Thromboc... |
OMIM:604416 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ... |
ORPHA:86841 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:610582 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
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Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Hypersegmentation of neutrophil nuclei, Meg... |
OMIM:617780 |
Chronic Myeloid Leukemia |
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Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
Immunodeficiency 27A |
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Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbuminemia, Thrombocytosis, Histiocy... |
OMIM:209950 |
Glycogen Storage Disease 0, Liver |
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Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... |
OMIM:606176 |
Immunodeficiency 14B, Autosomal Recessive |
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Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis |
OMIM:619281 |
Hyperproinsulinemia |
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Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Essential Thrombocythemia |
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Acute leukemia, Thrombocytosis, Leukocytosis, Abnormal platelet morphology, Splenomegaly, Abnorma... |
ORPHA:3318 |
Heme Oxygenase 1 Deficiency |
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Thrombocytosis, Elevated circulating C-reactive protein concentration, Asplenia, Coombs-positive ... |
OMIM:614034 |
Primary Myelofibrosis |
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Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg... |
ORPHA:824 |
Sickle Cell Anemia |
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Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Splenic infa... |
ORPHA:232 |
Red Cell Phospholipid Defect With Hemolysis |
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Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Diabetes Mellitus, Transient Neonatal, 1 |
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Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Diabetes Mellitus, Permanent Neonatal, 2 |
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Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level |
OMIM:618856 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
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Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c |
OMIM:609812 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Anemia, Iron deficiency anemia, Hypoproteinemia, Hypoalbuminemia, Thrombocytosis |
OMIM:226300 |
Beta-Ketothiolase Deficiency |
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Hyperuricemia, Leukocytosis, Hyperammonemia, Hyperglycemia, Hypoglycemia, Thrombocytosis |
ORPHA:134 |
Sting-Associated Vasculopathy, Infantile-Onset |
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Nail dystrophy, Anemia, Elevated circulating C-reactive protein concentration, Leukopenia, Sparse... |
OMIM:615934 |
Transient Neonatal Diabetes Mellitus |
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Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... |
ORPHA:99886 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Er... |
OMIM:301083 |
Immunodeficiency 92 |
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Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... |
OMIM:619652 |
Type 1 Diabetes Mellitus |
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Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Lipodystrophy, Familial Partial, Type 3 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... |
OMIM:604367 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... |
OMIM:262190 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Anemia, Hyperuricemia, Leukocytosis, Nonketotic hypoglycemia, Hyperammonemia, Leukopenia, Recurre... |
ORPHA:20 |
Celiac Disease, Susceptibility To, 1 |
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Iron deficiency anemia, Macrocytic anemia, Hypocalcemia, Type I diabetes mellitus, Thrombocytosis... |
OMIM:212750 |
Trichohepatoenteric Syndrome 1 |
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Trichorrhexis nodosa, Abnormality of iron homeostasis, Brittle hair, Hypergalactosemia, Woolly ha... |
OMIM:222470 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia |
OMIM:604484 |
Mody |
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Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,... |
ORPHA:552 |
Poems Syndrome |
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Leukonychia, Diabetes mellitus, Polycythemia, Splenomegaly, Thrombocytosis, Hypertrichosis |
ORPHA:2905 |
Neuroleptic Malignant Syndrome |
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Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Le... |
ORPHA:94093 |
Rh-Null, Amorph Type |
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Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Stomatocytosis, Hemolytic anemia |
OMIM:617970 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... |
OMIM:243150 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
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Hyperglycemia |
OMIM:618970 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Anemia, Elevated circulating C-reactive protein concentration, Pancytopenia, Leukocytosis, Leukop... |
OMIM:615688 |
Insulin-Resistance Syndrome Type B |
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Abnormal circulating lipid concentration, Hypotriglyceridemia, Leukopenia, Abnormal circulating f... |
ORPHA:2298 |
Spherocytosis, Type 4 |
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Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:612653 |
Autoerythrocyte Sensitization Syndrome |
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Autoimmune thrombocytopenia, Thrombocytosis, Abnormal erythrocyte morphology, Impaired platelet a... |
ORPHA:324636 |
Elliptocytosis 2 |
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Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Spherocytosis, Type 2 |
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Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia |
OMIM:616649 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Thrombocytosis, Elevated circulating C-reactive protein concentration, Iron deficiency anemia, Ly... |
OMIM:301074 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Hypocholesterolemia, Thrombocytosis |
OMIM:212065 |
Syndromic Diarrhea |
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Trichorrhexis nodosa, Abnormality of iron homeostasis, Hypopigmentation of hair, Brittle hair, Un... |
ORPHA:84064 |
Diabetes And Deafness, Maternally Inherited |
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Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Interstitial Lung And Liver Disease |
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Hyperammonemia, Intraalveolar phospholipid accumulation, Anemia, Thrombocytosis |
OMIM:615486 |
Diamond-Blackfan Anemia |
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Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Polycythemia Vera |
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Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis |
ORPHA:729 |
Lipodystrophy, Familial Partial, Type 1 |
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Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Hypokalemic Periodic Paralysis |
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Mildly elevated creatine kinase, Episodic hypokalemia, Postprandial hyperglycemia |
ORPHA:681 |
Familial Thrombocytosis |
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Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia |
ORPHA:71493 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Glycosuria, Ketotic hypoglycemia, Hyperlipidemia, Postprandial hyperglycemia |
ORPHA:2089 |
Diabetes Mellitus, Permanent Neonatal, 3 |
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Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Diamond-Blackfan Anemia 1 |
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Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Cogan Syndrome |
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Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Idiopathic Hypereosinophilic Syndrome |
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Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... |
ORPHA:3260 |
Cole Disease |
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Abnormal blood phosphate concentration, Hyperglycemia, Abnormal hair morphology |
OMIM:615522 |
Kawasaki Disease |
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Abnormality of nail color, Elevated circulating C-reactive protein concentration, Leukocytosis, H... |
ORPHA:2331 |
Brucellosis |
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Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Splenome... |
ORPHA:1304 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Hypochromic anemia, Thrombocytosis, Leukocytosis |
OMIM:618213 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hyperglycemia, Type II diabetes me... |
OMIM:615812 |
Necrotizing Enterocolitis |
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Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Neutro... |
ORPHA:391673 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperinsulinemia, Brittle hair, Alopecia, Hyperlipidemia, Hyperglycemia, Sparse hair, Glucose int... |
OMIM:608612 |
Donohue Syndrome |
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Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Postprandial hyperglycemia, Hypertrichosis |
OMIM:246200 |
Combined Oxidative Phosphorylation Deficiency 54 |
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Hyperglycemia |
OMIM:619737 |
Greig Cephalopolysyndactyly Syndrome |
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Hirsutism, Hyperglycemia |
OMIM:175700 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia, Diabetes mellitus, Hyperglycemia |
OMIM:615710 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Hyperammonemia, Hypoglycemia, Hyperglycemia |
OMIM:615453 |
Leukocyte Adhesion Deficiency |
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Nail dystrophy, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality ... |
ORPHA:2968 |
Fanconi-Bickel Syndrome |
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Increased serum bile acid concentration, Fasting hypoglycemia, Hypokalemia, Hypouricemia, Hyperbi... |
OMIM:227810 |
Dend Syndrome |
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Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Pyruvate Carboxylase Deficiency |
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Hypertaurinemia, Elevated plasma citrulline, Hyperglutamatemia, Increased serum pyruvate, Hyperal... |
ORPHA:3008 |
Fanconi-Bickel Syndrome |
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Hypertriglyceridemia, Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Hypophosphate... |
ORPHA:2088 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
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Abnormality of iron homeostasis, Diabetes mellitus, Hyperglycemia, Splenomegaly, Elevated transfe... |
ORPHA:465508 |
Bardet-Biedl Syndrome 9 |
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Hyperglycemia |
OMIM:615986 |
Rabson-Mendenhall Syndrome |
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Premature graying of hair, Fasting hypoglycemia, Thick hair, Hypokalemia, Hirsutism, Impaired glu... |
ORPHA:769 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hirsutism, Hyper... |
OMIM:151660 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia, Hyperglycemia, Leukocytosis |
ORPHA:90065 |
Doors Syndrome |
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Thrombocytosis, Low anterior hairline |
ORPHA:79500 |
Short Syndrome |
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Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hyperinsulinemia, Hyperlipidemia, Impaired glucose tolerance, Sparse scalp hair, Hype... |
OMIM:248370 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
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Hypernatremia, Thrombocytopenia, Hyperglycemia, Hypoglycemia, Hyperglycinemia |
OMIM:620423 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Hyperglycemia |
OMIM:615954 |
Alstrom Syndrome |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Hyperuricemia, H... |
OMIM:203800 |
Isolated Sedoheptulokinase Deficiency |
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Hypochromic microcytic anemia, Anemia, Postprandial hyperglycemia |
ORPHA:440713 |
Pancreatic And Cerebellar Agenesis |
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Hypoglycemia, Diabetes mellitus, Hyperglycemia, Anemia |
OMIM:609069 |
Atypical Werner Syndrome |
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Premature graying of hair, Hypertriglyceridemia, Hyperinsulinemia, Abnormal hair morphology, Alop... |
ORPHA:79474 |
Leprechaunism |
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Hyperinsulinemia, Fasting hypoglycemia, Hypokalemia, Facial hypertrichosis, Increased circulating... |
ORPHA:508 |
Thyrotoxic Periodic Paralysis |
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Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... |
ORPHA:79102 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Brittle hair, Hyperglycemia, Recurrent hypoglycemia, Hypoglycemia |
OMIM:124000 |
Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Hypokalemia, Glycosuria, Hyperglycemia, Increased ... |
ORPHA:466677 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Glycosuria, Hyperglycemia, Neonatal insulin-dependent diabetes mellitus |
ORPHA:99885 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Facial hirsutism, Thick hair, Highly arched eyebrow, Synophrys, Long eyelashes, Curly hair, Hyper... |
ORPHA:444077 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Highly arched eyebrow, Hirsutism, Hyperammonemia, Hyperglycemia, Low anterior hairline, Hypoglycemia |
OMIM:220111 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hyperlipidemia, Hyponatremia, Hyperglycemia |
ORPHA:293987 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Glycosuria, Diabetes mellitus, Hyperglycemia |
OMIM:600001 |
Bardet-Biedl Syndrome |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Medial flaring of the eyebrow, Imp... |
ORPHA:110 |