Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Hypoca... |
OMIM:618883 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:203330 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Hyperinsulinism Due To Insr Deficiency |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, H... |
ORPHA:263458 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypo... |
OMIM:610021 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Recurrent hypoglycemia, Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, T... |
ORPHA:79299 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Absence of lymph node germinal center, Abnormality of the liver |
OMIM:235550 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Jaundice, Lymphadenopathy, Anemia |
OMIM:312500 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy, Mucinous histiocytosis |
ORPHA:158025 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Hypoglycemia |
OMIM:232700 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:603233 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hypocalcemic seizures, Hyper... |
OMIM:146200 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Impaired glucose tolerance, Hypertriglyceridemia, Glucos... |
OMIM:610947 |
Blue Diaper Syndrome |
|
Increased proinsulin:insulin ratio, Recurrent hypoglycemia, Hyperphosphatemia, Decreased circulat... |
ORPHA:94086 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypocalcemic seizures, Hyperphosphatemia, Parathyroid agenesis, Congenital hypoparathyroidism, Hy... |
ORPHA:2239 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:136120 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Glucose intolerance, Increased VLDL cholesterol concentration |
OMIM:145750 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Asymptomatic hyperammonemia, Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypocalcemic seizures, ... |
ORPHA:94090 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Increased circulating renin level, Hyperphosphat... |
OMIM:601198 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:71529 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Increased serum leptin |
OMIM:617885 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switch... |
OMIM:619126 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hyperammonemia, Increased C-peptide level, Hypoglycemic seizures, Hyperinsulinemia, Elevated circ... |
OMIM:620211 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Pseudopseudohypoparathyroidism |
|
Elevated circulating parathyroid hormone level, Abnormality of the endocrine system, Hyperphospha... |
ORPHA:79445 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Neonatal hypoglycemia, Excessive insulin response to glu... |
ORPHA:324575 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Type II diabetes mellitus |
OMIM:246650 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154275 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperlipidemia, Hyperinsulinemia |
ORPHA:329249 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:154276 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Insulinoma, Type II diabetes ... |
OMIM:147630 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
Insulin Autoimmune Syndrome |
|
Fasting hypoglycemia, Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin resistance, Hyperin... |
ORPHA:411593 |
Pseudohypoparathyroidism, Type Ic |
|
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:612462 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating hormone concentration, Hyperinsulinemia, Insulin-resis... |
ORPHA:280356 |
Immunodeficiency 104 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:608971 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Hepatomegaly, Microcytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:618852 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Elevated circulating parathyroid hormone level, Parathyroid hyperplasia, Hyperphosphatemia, Hyper... |
OMIM:617994 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Fasting hypoglycemia, Excessive insulin response to glucagon test, Increased C-peptide level, Hyp... |
ORPHA:276575 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
OMIM:145600 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Fasting hypoglycemia, Maternal diabetes, Excessive insulin response to glucagon test, Abnormal or... |
ORPHA:276580 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased circulating parathyroid hormone level, Hypocalcemic seizures, Hyperphosphatemia, Decrea... |
OMIM:241410 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:66661 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Nephropathy, Hepatomegaly, Lymphadenopath... |
ORPHA:100024 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Diabetes mellitus, Hypertriglyceridemia, Hypocalcemia, Insulin resistance, Hypercholesterolemia |
OMIM:612526 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Hyperuricemia, Hyperinsulinemia, Hypertriglyceridemia, Decreased HDL cholester... |
OMIM:604367 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... |
ORPHA:66628 |
Pseudohypoparathyroidism, Type Ia |
|
Hypogonadism, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:103580 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Autoimmune Hypoparathyroidism |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Autoimmune hypoparathyroidism, Hypocalcem... |
ORPHA:36913 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Insulin resistance, Decreased adipo... |
ORPHA:79085 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Calciphylaxis |
|
Secondary hyperparathyroidism, Hyperphosphatemia |
ORPHA:280062 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypoplasia of the ovary, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hypertriglyceridemia, ... |
ORPHA:179494 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:86893 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Hypoglycemia |
OMIM:306000 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Fasting hypoglycemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia, Hyperinsulinemia,... |
ORPHA:276608 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Hypertriglyceridemia, Decreased serum leptin, Diabetic ketoacidosis, D... |
OMIM:615238 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Elevated circulating creatine kina... |
OMIM:616516 |
Carcinoma Of Esophagus |
|
Lymphadenopathy |
ORPHA:70482 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Lymphocytosis |
OMIM:606445 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria |
ORPHA:882 |
Immunodeficiency 76 |
|
Lymphopenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, T lymphocytopenia |
OMIM:619164 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Kimura Disease |
|
Follicular hyperplasia, Lymphadenopathy, Eosinophilia |
ORPHA:482 |
Trimethylaminuria |
|
Trimethylaminuria, Neutropenia, Splenomegaly, Anemia |
OMIM:602079 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count |
OMIM:618261 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Excessive insulin response to glucagon test, Recurrent hypoglycemia, Increased C-peptide level, R... |
ORPHA:276556 |
Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Immunodeficiency 52 |
|
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Lymphadeno... |
OMIM:617514 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance |
OMIM:613877 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased proportion of class-switched memory B cells, Increased proportion of transitional B cel... |
OMIM:615513 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hyperphosphatemia, Congenital hypoparathyroidism, Hypocalcemia, Aplasia/Hypop... |
ORPHA:2323 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... |
OMIM:619220 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Hemophagocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Splenomegaly... |
OMIM:603552 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology, Acute kidney injury, Nephrocalcinosis |
ORPHA:33111 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Microphthalmia, Hypocalcemia |
OMIM:127000 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Neoplasm of the thyroid gland, Goiter, Hyperphosphatemia, Hyperthyroidism, Abnormal calcium-phosp... |
ORPHA:457059 |
Alpha-Heavy Chain Disease |
|
Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Ascites |
ORPHA:100025 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Pseudohy... |
ORPHA:94089 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:607616 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hodgkin Lymphoma |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:98293 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79084 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:241520 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Burkitt Lymphoma |
|
Abnormality of the liver, Abnormal lymph node morphology, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Splenomegaly, Fetal ascites |
OMIM:619462 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:618620 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase |
ORPHA:99845 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:417 |
Galactosemia Iii |
|
Jaundice, Galactosuria, Hepatomegaly, Aminoaciduria, Splenomegaly |
OMIM:230350 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Central adrenal insufficiency, Decreased response to growth hormone stimulation ... |
ORPHA:71526 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:608600 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatosplenomegaly, Generalized lymphadenopathy, Decreased proportion of memory B cells, Decrease... |
OMIM:615559 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Adrenal calcification, Hypercholesterolemia |
ORPHA:75234 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly, Aminoaciduria |
ORPHA:79238 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy, Increased B cell count |
OMIM:618982 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Lymphopenia, ... |
OMIM:619846 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Abnormal ly... |
OMIM:612840 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Leukemia, Hepatomegaly, Follicular hyperplasia, Pa... |
OMIM:614470 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive helper... |
OMIM:300853 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Enlarged kidney, Anemia, Hepatomegaly, Thrombocytopenia... |
OMIM:615285 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Thrombocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:613101 |
Immunodeficiency 64 With Lymphoproliferation |
|
Hepatosplenomegaly, Cervical lymphadenopathy, Autoimmune thrombocytopenia, Increased proportion a... |
OMIM:618534 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Leukemia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia |
ORPHA:228312 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Tracheoesophageal fistula, Abnormality of mesentery morphology, Abnormality of... |
ORPHA:93941 |
Immunodeficiency 32A |
|
Lymphadenopathy, Lymphadenitis |
OMIM:614893 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Lipe-Related Familial Partial Lipodystrophy |
|
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperlipidemia, Decreas... |
ORPHA:435660 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Hypocalcemic seizures, Hyperphosphatemia, Abnormal circulating follicle... |
ORPHA:93325 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Hyperinsulinemia, Hyperglycemia, Diabetic ketoa... |
OMIM:262190 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Fasting hypoglycemia, Neonatal hypoglycemia, Glycosuria, Pancreatic islet-cell hyperplasia, Abnor... |
ORPHA:263455 |
Immunodeficiency 105 |
|
Hepatosplenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Redu... |
OMIM:619924 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Autoimmune thrombocyto... |
OMIM:619375 |
Insulinoma |
|
Pituitary prolactin cell adenoma, Recurrent hypoglycemia, Fasting hyperinsulinemia, Reactive hypo... |
ORPHA:97279 |
Mandibuloacral Dysplasia |
|
Abnormally large globe, Hyperinsulinemia, Hypertriglyceridemia, Increased circulating free fatty ... |
ORPHA:2457 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Decreased serum leptin, Decreased adiponectin level, Insuli... |
ORPHA:435651 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis |
OMIM:269600 |
Familial Isolated Hyperparathyroidism |
|
Hypophosphatemia, Elevated circulating parathyroid hormone level, Primary hyperparathyroidism, Hy... |
ORPHA:99879 |
Pfapa Syndrome |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:42642 |
Pseudohypoparathyroidism Type 1C |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Pseudohy... |
ORPHA:79444 |
Mody |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Glycosuria, Diabetic ketoacido... |
ORPHA:552 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD4-positive T cells, Abnormal p... |
OMIM:212050 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly |
OMIM:105200 |
Fish-Eye Disease |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:79292 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis |
OMIM:610293 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:620010 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperphosphatemia, Calcinosis |
OMIM:211900 |
Bdv Syndrome |
|
Delayed puberty, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Decreas... |
OMIM:619326 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Histiocytosis, Lymphadenopathy, Thrombocytosis, Enlarge... |
OMIM:209950 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hypogonadism, Elevated calcitonin, Elevated circulating parathyroid hormone level, Hyperphosphate... |
OMIM:101800 |
Immunodeficiency 84 |
|
B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:56425 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus, Hepatomegaly, Splenomegaly |
OMIM:616622 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemia, Hyperparathyroidism, Elevated circulating parathyroid hormone level, Parathyroi... |
OMIM:612089 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Absent tonsils, Hepatomegaly, Lymphopenia, Splenomegaly, Eosinophili... |
OMIM:602450 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites |
OMIM:271500 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Pancytopenia, Thrombocytosis, Splenomegaly |
OMIM:618963 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Alpha-Thalassemia |
|
Jaundice, Hemolytic anemia, Anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Cholel... |
ORPHA:846 |
Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Hyperinsulinemia, Hypergonadotropic h... |
ORPHA:79237 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy, Anemia |
ORPHA:158014 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy |
OMIM:618987 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Pseudohypoparathyroidism Type 1A |
|
Pituitary resistance to thyroid hormone, Elevated calcitonin, Elevated circulating parathyroid ho... |
ORPHA:79443 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia |
OMIM:240900 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:97290 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Nephronophthisis 19 |
|
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomeg... |
OMIM:616217 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Lymphadenopathy, Mastocytosis, Increased proportion ... |
ORPHA:98848 |
Schnitzler Syndrome |
|
Leukocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:37748 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology |
ORPHA:319487 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Retinitis Pigmentosa |
|
Hypogonadism, Type II diabetes mellitus, Hyperinsulinemia |
ORPHA:791 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:618495 |
Insulin-Resistance Syndrome Type B |
|
Fasting hypoglycemia, Abnormal circulating lipid concentration, Increased serum testosterone leve... |
ORPHA:2298 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Neonatal hypoglycemia, Abnormal circulating insulin concentration, Nonketotic hypoglycemia, Hypog... |
ORPHA:293964 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node germinal center |
OMIM:608184 |
Neuroleptic Malignant Syndrome |
|
Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi... |
ORPHA:94093 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Increased C-peptide level, Hyperinsulinemia, Hy... |
ORPHA:528 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Decreased circulating parathyroid hormone level, Hypopho... |
ORPHA:157215 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Lymphadenopathy, Splenomegaly, Abn... |
OMIM:150550 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperglycemia, Type II diabetes me... |
OMIM:615812 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Leukocytosis, Lymphadenopathy, Splenomegaly |
OMIM:611762 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Increased circulating cortisol level, Abnormality of the parathyro... |
ORPHA:1227 |
Congenital Toxoplasmosis |
|
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, Cardiomegaly, Ascites |
ORPHA:858 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:2584 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Anemia, Hepatomegaly, Thrombocytopenia, Hypersplenism, Splenomegaly |
OMIM:610539 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Hemophagocytosis, Aplastic anemia, Hepatomegaly, Lymphadenopathy, Pancytopeni... |
OMIM:615122 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:615558 |
Fanconi Renotubular Syndrome 5 |
|
Glycosuria, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:618913 |
Heme Oxygenase 1 Deficiency |
|
Proteinuria, Cervical lymphadenopathy, Asplenia, Hemolytic anemia, Hepatomegaly, Lymphadenopathy,... |
OMIM:614034 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Immunodeficiency 7 |
|
Hypereosinophilia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Neut... |
OMIM:615387 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Impaired glucose tolerance, Increased s... |
OMIM:615363 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis, Abnormality of the liver |
ORPHA:2040 |
Temple Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, Precocious puberty, Maturity-onset diabetes of the young |
OMIM:616222 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Lymphadenopathy, Splenomegaly |
OMIM:607271 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:79301 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, E... |
OMIM:615631 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypergonadotropic hypogonadism |
ORPHA:3085 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... |
OMIM:607594 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemia, Hypophosphatemic rickets |
OMIM:193100 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hypothyroidism, Hyperglycemia, Transient neonatal diabetes mellitus, Hypoinsul... |
ORPHA:99886 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Obsolete: Acrodysostosis With Multiple Hormone Resistance |
|
Hypogonadism, Elevated calcitonin, Diabetes mellitus, Elevated circulating parathyroid hormone le... |
ORPHA:280651 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Hypophosphatemia, Glycosuria, Diabetes mellitus... |
ORPHA:2088 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypopituitarism, Hypothyroidism, Hypoalbuminemia |
OMIM:619013 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Anemia, Abnormality of the ureter, Hypoplasia of penis, Ascites, Splenomegaly, Hypospadias |
ORPHA:1046 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Pseudomyxoma Peritonei |
|
Abnormality of the peritoneum, Lymphadenopathy, Ascites |
ORPHA:26790 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:601859 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... |
OMIM:603909 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Fasting hypoglycemia, Hypoglycemia |
OMIM:613027 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Griscelli Syndrome Type 2 |
|
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia |
ORPHA:79477 |
Malignant Hyperthermia Of Anesthesia |
|
Hyperphosphatemia, Elevated creatine kinase after exercise, Hyperkalemia |
ORPHA:423 |
Immunodeficiency 54 |
|
Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy, Splenomegaly |
OMIM:609981 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly |
OMIM:619658 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:172 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hepatomega... |
OMIM:616860 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Neonatal hypoglycemia, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin... |
ORPHA:71212 |
Cholestasis-Lymphedema Syndrome |
|
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis,... |
ORPHA:1414 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
Hemochromatosis, Type 2B |
|
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:613313 |
Leishmaniasis |
|
Abnormal macrophage morphology, Leukopenia, Anemia, Hepatomegaly, Thrombocytopenia, Lymphadenopat... |
ORPHA:507 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Glycosuria |
OMIM:308990 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Lymphopenia, B lymphocytopenia, Absence of lymph node germinal center, T lymphocy... |
ORPHA:277 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Male hypogonadism, Insulin resistance |
OMIM:615381 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Dent Disease 2 |
|
Hypophosphatemia, Elevated circulating creatine kinase concentration |
OMIM:300555 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the pancreas, Neutrophilia,... |
ORPHA:54251 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia |
ORPHA:3378 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Glycosuria, Hypouricemia, Diabetes mellitus, Hypoglycemia |
OMIM:616026 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy, Splenomegaly |
ORPHA:158029 |
Multiple Endocrine Neoplasia Type 4 |
|
Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin... |
ORPHA:276152 |
Harderoporphyria |
|
Reticulocytosis, Red urine, Hemolytic anemia, Increased urinary porphobilinogen, Increased urine ... |
OMIM:618892 |
Nephrotic Syndrome, Type 14 |
|
Hypogonadism, Hypertriglyceridemia, Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Hypoalbu... |
OMIM:617575 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hepatomegaly, Thrombocyto... |
ORPHA:3226 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... |
OMIM:619849 |
Erythrocytosis, Familial, 8 |
|
Increased hemoglobin, Increased hematocrit, Splenomegaly, Polycythemia |
OMIM:222800 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Jaundice, Hepatomegaly, Portal fibrosis, Splenomegaly, Acholic stools |
OMIM:619868 |
Cholestasis-Lymphedema Syndrome |
|
Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:214900 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Tangier Disease |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
OMIM:205400 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Aplastic anemia, Fulminant hepatitis, Hepatomegaly, Thrombocytopenia, Lymphaden... |
OMIM:308240 |
Pleural Mesothelioma |
|
Lymphadenopathy, Hepatomegaly |
ORPHA:50251 |
Cystinosis |
|
Delayed puberty, Hypophosphatemia, Nephrogenic diabetes insipidus, Hypokalemia, Hypothyroidism, T... |
ORPHA:213 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenitis, Neph... |
ORPHA:911 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Abnormal erythrocyte morph... |
ORPHA:766 |
Ataxia-Pancytopenia Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils, Hypoplastic anemia, Pancytopenia, Acu... |
ORPHA:2585 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Hyperuricemia, Diabetes mellitus, Hypertriglyceridemia, Insulin resistance, In... |
ORPHA:79083 |
Solitary Median Maxillary Central Incisor |
|
Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stimulation test, Mi... |
OMIM:147250 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Lymphadeni... |
OMIM:618935 |
Alstrom Syndrome |
|
Hyperuricemia, Multinodular goiter, Diabetes insipidus, Decreased response to growth hormone stim... |
OMIM:203800 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Microphthalmia, Abnormality of the hypothalamus-pituitary axis |
ORPHA:139471 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... |
OMIM:267700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia, Hypoglycemia |
ORPHA:364 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... |
OMIM:617253 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline |
OMIM:603471 |
Primary Myelofibrosis |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... |
ORPHA:824 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Throm... |
OMIM:613011 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Glucose intolerance, Abnormality of the adrenal glands, Absence of secondary se... |
ORPHA:785 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria |
ORPHA:664 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... |
OMIM:616278 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia |
OMIM:182290 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:85414 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Cholestatic liver disease, Hepatomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hemophagocytosis, Bone marrow hypocellularity, Autoimmune hemolytic anemia, Hepatomegaly, Thrombo... |
OMIM:301078 |
Klatskin Tumor |
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Jaundice, Hepatomegaly, Cholangiocarcinoma, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Cinca Syndrome |
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Hepatosplenomegaly, Leukocytosis, Anemia, Eosinophilia, Lymphadenopathy |
OMIM:607115 |
Griscelli Syndrome |
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Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... |
ORPHA:381 |
Citrullinemia Type Ii |
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Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
Dysbetalipoproteinemia |
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Increased LDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, Decreased HDL c... |
ORPHA:412 |
Fanconi Renotubular Syndrome 2 |
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Elevated circulating parathyroid hormone level, Hypophosphatemia, Glycosuria |
OMIM:613388 |
Immunodeficiency 91 And Hyperinflammation |
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Hepatosplenomegaly, Hemophagocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Hepatomegal... |
OMIM:619644 |
Gamma-Heavy Chain Disease |
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Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Abnormal lymphocy... |
ORPHA:100026 |
Alpha-1-Antitrypsin Deficiency |
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Hepatocellular carcinoma, Splenomegaly, Cirrhosis |
OMIM:613490 |
Rhabdoid Tumor |
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Neoplasm of the liver, Anemia, Thrombocytopenia, Lymphadenopathy, Hematuria |
ORPHA:69077 |
Desmoplastic Small Round Cell Tumor |
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Abnormality of the peritoneum, Anemia, Neoplasm of the pancreas, Hepatomegaly, Lymphadenopathy, M... |
ORPHA:83469 |
Glycogen Storage Disease Ixb |
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Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Acquired Generalized Lipodystrophy |
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Abnormal circulating lipid concentration, Hyperinsulinemia, Hypertriglyceridemia, Insulin resista... |
ORPHA:79086 |
Microphthalmia, Syndromic 5 |
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Ectopic posterior pituitary, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
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Hypophosphatemia |
OMIM:612287 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
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Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly |
OMIM:619183 |
Mpi-Cdg |
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Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
ORPHA:79319 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Abnormal circulating calcium concentration, Decreased circulating parathyroid hormone level, Hypo... |
OMIM:241530 |
Fanconi Renotubular Syndrome 1 |
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Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
Dehydrated Hereditary Stomatocytosis 2 |
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Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Tularemia |
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Leukocytosis, Cervical lymphadenopathy, Anemia, Abnormal nasopharyngeal adenoid morphology, Throm... |
ORPHA:3392 |
Anaplastic Thyroid Carcinoma |
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Tracheoesophageal fistula, Laryngotracheal stenosis, Lymphadenopathy |
ORPHA:142 |
Immunodeficiency 97 With Autoinflammation |
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Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... |
OMIM:619802 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Glucose intolerance, Insulin-resistant diabetes ... |
OMIM:608612 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... |
OMIM:314050 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Elevated circulating parathyroid hormone level, Abnormal circulating calcium concentration, Hypop... |
OMIM:307800 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Niemann-Pick Disease, Type A |
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Bone-marrow foam cells, Hepatomegaly, Prolonged neonatal jaundice, Sea-blue histiocytosis, Microc... |
OMIM:257200 |
Nephroblastoma |
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Lymphadenopathy, Hematuria, Neoplasm of the liver |
ORPHA:654 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Jaundice, Absent tonsils, Decreased proportion of CD3-positive T cells, Hepatomegaly, Lymphopenia... |
ORPHA:276 |
Lipodystrophy, Familial Partial, Type 6 |
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Abnormal circulating lipid concentration, Diabetes mellitus, Elevated circulating creatine kinase... |
OMIM:615980 |
Hydrolethalus |
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Anophthalmia, Microphthalmia |
ORPHA:2189 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Walker-Warburg Syndrome |
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Abnormal circulating creatine kinase concentration, Anophthalmia, Microphthalmia |
ORPHA:899 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Secondary hyperparathyroidism, Hypophosphatemia, Elevated circulating parathyroid hormone level, ... |
OMIM:264700 |
Aggressive Systemic Mastocytosis |
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Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Neutropenia, P... |
ORPHA:98850 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
Familial Partial Lipodystrophy, Dunnigan Type |
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Hypertriglyceridemia, Diabetes mellitus, Insulin resistance |
ORPHA:2348 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperinsulinemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperglycemia, T... |
OMIM:151660 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... |
OMIM:235700 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Mildly elevated creatine kinase, Hyperlipidemia, Hyperglycemia |
OMIM:604484 |
Cryohydrocytosis |
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Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Autosomal Dominant Hypophosphatemic Rickets |
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Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Omenn Syndrome |
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Leukocytosis, Anemia, Hepatomegaly, Abnormal lymphocyte morphology, Nephrotic syndrome, Eosinophi... |
ORPHA:39041 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
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Hypophosphatemia |
OMIM:612286 |
Omenn Syndrome |
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Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Eosinophilia, Thrombocy... |
OMIM:603554 |
Cholesteryl Ester Storage Disease |
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Increased LDL cholesterol concentration, Steatorrhea, Adrenal calcification, Hypertriglyceridemia... |
OMIM:278000 |
Cockayne Syndrome Type 2 |
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Male hypogonadism, Anophthalmia |
ORPHA:90322 |
Sclerosing Cholangitis, Neonatal |
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Ductal bile plugs, Jaundice, Biliary cirrhosis, Cholestasis, Hepatic bridging fibrosis, Bile duct... |
OMIM:617394 |
Glycogen Storage Disease Iii |
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Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Hurler-Scheie Syndrome |
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Abnormality of the tonsils, Hepatomegaly, Splenomegaly |
ORPHA:93476 |
Hyperparathyroidism, Neonatal Severe |
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Hypercalcemia, Hypophosphatemia, Elevated circulating parathyroid hormone level, Primary hyperpar... |
OMIM:239200 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Jaundice, Intrahepatic cholestasis, Portal inflammation, Bile duct proliferation, Hepatomegaly, C... |
OMIM:602347 |
Refractory Celiac Disease |
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Hypoproteinemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Hypoalbuminemia |
ORPHA:398063 |
Osteopetrosis, Autosomal Recessive 8 |
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Thrombocytopenia, Hepatomegaly, Splenomegaly, Anemia |
OMIM:615085 |
Sézary Syndrome |
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Abnormal lymphocyte morphology, Hepatomegaly, Lymphadenopathy, Splenomegaly |
ORPHA:3162 |
Portal Hypertension, Noncirrhotic, 2 |
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Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... |
OMIM:619463 |
Donohue Syndrome |
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Fasting hypoglycemia, Postprandial hyperglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulin... |
OMIM:246200 |
Joubert Syndrome 33 |
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Splenomegaly |
OMIM:617767 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
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Hyperinsulinemia |
ORPHA:66518 |
Spherocytosis, Type 4 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Immunodeficiency 10 |
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Thrombocytopenia, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:612783 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
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Pancytopenia, Splenomegaly |
OMIM:614979 |
Overhydrated Hereditary Stomatocytosis |
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Anisocytosis, Intermittent jaundice, Reticulocytosis, Hemolytic anemia, Abnormal mean corpuscular... |
ORPHA:3203 |
Chronic Myeloid Leukemia |
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Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Postprandial hyperglycemia, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:77298 |
Fanconi-Bickel Syndrome |
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Fasting hypoglycemia, Hypophosphatemia, Glycosuria, Hypouricemia, Postprandial hyperglycemia, Hyp... |
OMIM:227810 |
Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2717 |
Polycythemia Vera |
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Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Thrombocytopenia, Increased he... |
OMIM:263300 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, Microphthalmia |
OMIM:206920 |
Hemorrhagic Fever-Renal Syndrome |
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Hyperkalemia, Hyperphosphatemia, Elevated circulating creatinine concentration |
ORPHA:340 |
Purine Nucleoside Phosphorylase Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Autoimmune thrombocy... |
OMIM:613179 |
Spherocytosis, Type 1 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Anemia, Decreased mean corpuscular volume, Hepatomegaly, Hypochromia, Elevated hepatic iron conce... |
OMIM:615234 |
Smith-Magenis Syndrome |
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Delayed puberty, Hypertriglyceridemia, Hypothyroidism, Hypercholesterolemia, Precocious puberty |
ORPHA:819 |
Roifman Syndrome |
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Hepatomegaly, Lymphadenopathy, Splenomegaly, Eosinophilia |
OMIM:616651 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Hepatomegaly, Lymphopenia, Lymphadenopa... |
OMIM:616100 |
Castleman Disease |
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Generalized lymphadenopathy, Jaundice, Abdominal mass, Anemia, Ureteral obstruction, Renal insuff... |
ORPHA:160 |
Hyperlipoproteinemia, Type Id |
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Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615947 |
Vitamin D-Dependent Rickets, Type 2A |
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Elevated circulating parathyroid hormone level, Secondary hyperparathyroidism, Hypocalcemic seizu... |
OMIM:277440 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, B lymphocytope... |
ORPHA:231154 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
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Jaundice, Cholestasis, Hepatomegaly, Portal hypertension, Splenomegaly |
ORPHA:59303 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnese... |
OMIM:618183 |
Hepatoportal Sclerosis |
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Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... |
ORPHA:64743 |
Spherocytosis, Type 2 |
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Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Hepatosplenomegaly, Proteinuria, Decreased glomerular filtration rate, Abnormal urinary electroly... |
ORPHA:85450 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... |
OMIM:613470 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytopenia, Ne... |
ORPHA:169154 |
Elliptocytosis 1 |
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Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
Rabson-Mendenhall Syndrome |
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Fasting hypoglycemia, Increased serum testosterone level, Impaired glucose tolerance, Increased p... |
ORPHA:769 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Exercise-Induced Malignant Hyperthermia |
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Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hyperkalemia |
ORPHA:466650 |
Hurler-Scheie Syndrome |
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Heparan sulfate excretion in urine, Tracheal stenosis, Hepatomegaly, Dermatan sulfate excretion i... |
OMIM:607015 |
Osteopetrosis, Autosomal Dominant 3 |
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Hepatomegaly, Splenomegaly, Anemia |
OMIM:618107 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Impaired glucose tolerance, Calcinosis, Hyperinsulinemia, Hyperglycemia, Hyperlipidemia, Hypercho... |
OMIM:248370 |
Pyruvate Kinase Deficiency Of Red Cells |
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Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Hepatomegaly, Decreased hemogl... |
OMIM:266200 |
Boutonneuse Fever |
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Leukopenia, Cervical lymphadenopathy, Renal insufficiency, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Beta-Thalassemia |
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Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Hepatitis, Thrombocytopenia, Cholel... |
ORPHA:848 |
Macrophage Activation Syndrome |
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Hemophagocytosis, Anemia, Hepatomegaly, Hepatitis, Abnormal natural killer cell count, Thrombocyt... |
ORPHA:158061 |
Congenital Disorder Of Glycosylation, Type Ib |
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Steatorrhea, Hyperinsulinemic hypoglycemia, Hypoalbuminemia |
OMIM:602579 |
Middle Ear Neuroendocrine Tumor |
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Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Fasting hypoglycemia, Ketotic hypoglycemia, Recurrent hypoglycemia, Elevated circulating creatine... |
ORPHA:79240 |
Trisomy 1Q |
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Anophthalmia |
ORPHA:261344 |
Werner Syndrome |
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Elevated hemoglobin A1c, Diabetes mellitus, Hypertriglyceridemia, Hypogonadism |
OMIM:277700 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Hypertriglyceridemia, Hypoplasia of the thymus, Increased circulating ferritin concentration |
OMIM:619313 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hypertriglyceridemia, Insulin resistance, Elevated circulating creatine kinase concentration, Hyp... |
OMIM:613327 |
Ataxia With Vitamin E Deficiency |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Hb Bart'S Hydrops Fetalis |
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Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:163596 |
Matthew-Wood Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2470 |
Papa Syndrome |
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Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Hypophosphatemia, Hypocalcemia |
OMIM:600081 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Hepatocellular carcinoma, Intermittent jaundice, Intrahepatic cholestasis, Hepatomegaly, Cirrhosi... |
OMIM:601847 |
Chylomicron Retention Disease |
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Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
X-Linked Acrogigantism |
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Delayed puberty, Hypopituitarism, Elevated circulating growth hormone concentration, Abnormality ... |
ORPHA:300373 |
Proprotein Convertase 1/3 Deficiency |
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Hypoinsulinemia, Reactive hypoglycemia, Hypogonadotropic hypogonadism, Decreased circulating cort... |
OMIM:600955 |