Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphadenopathy, ... |
ORPHA:100025 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalc... |
OMIM:612526 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... |
ORPHA:83471 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T4 concentration, Increased circulating thyroglobulin level, Increased... |
OMIM:188570 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Anaplastic thyroid carcinom... |
ORPHA:142 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux, Lymphadenopathy |
ORPHA:99976 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Esophageal var... |
ORPHA:75234 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital hypoparathyroid... |
ORPHA:2239 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Increase... |
ORPHA:398063 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Esophageal varix, Portal hypertension |
OMIM:617068 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Pendred Syndrome |
|
Increased circulating thyroglobulin level, Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Intestinal malrotation, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:615524 |
Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalce... |
OMIM:146200 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hyperpigmentation of the skin, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, ... |
OMIM:175500 |
Pseudohypoparathyroidism, Type Ib |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:603233 |
Matthew-Wood Syndrome |
|
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spl... |
ORPHA:2470 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Gracile Bone Dysplasia |
|
Asplenia, Hypocalcemia, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites, Ankyloglossia |
OMIM:602361 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosph... |
ORPHA:94090 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating... |
ORPHA:139507 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abnormality of the pancreas, Abnormality of ... |
ORPHA:543 |
Hereditary Progressive Mucinous Histiocytosis |
|
Mucinous histiocytosis, Lymphadenopathy |
ORPHA:158025 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Increased circulating ferritin concent... |
OMIM:613313 |
X-Linked Agammaglobulinemia |
|
Abnormality of the tonsils, Malabsorption, Thrombocytopenia, Abnormality of the lymphatic system,... |
ORPHA:47 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
Bangstad Syndrome |
|
Pancytopenia, Abnormally large globe, Insulin-resistant diabetes mellitus, Primary gonadal insuff... |
OMIM:210740 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... |
ORPHA:95716 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ... |
OMIM:102700 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Functiona... |
ORPHA:90362 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Macroglossia, Protein-losing enteropat... |
OMIM:618440 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Lymphadenopathy, Abnormal liver parenchyma morphology, Ph... |
ORPHA:1332 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... |
OMIM:613239 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Wolman Disease |
|
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Esophageal varix, Adre... |
ORPHA:75233 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia, Adrenocorticotropic hormone exc... |
ORPHA:100083 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux |
OMIM:608971 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic bile... |
OMIM:618955 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port... |
ORPHA:64743 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... |
OMIM:131100 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Hypoalbuminemia, Hypocalcemia,... |
ORPHA:37042 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, ... |
ORPHA:1655 |
Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Tracheal stenosis, Hypothyroidism, Goiter |
ORPHA:705 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marrow foam cells, Leukopeni... |
OMIM:278000 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... |
OMIM:235255 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... |
OMIM:145001 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphadenopathy, Decreased proportion of class-switched memory B cells, H... |
OMIM:619126 |
Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Aplasia of the thymus, Congenital hypothyroidism, Hydrocele testis, Bifid uvula, A... |
OMIM:620186 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Abnorma... |
OMIM:275000 |
Monosomy 22 |
|
High palate, Aplasia of the thymus, Hypochromic microcytic anemia, Hepatosplenomegaly |
ORPHA:96123 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Esoph... |
OMIM:619463 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Tracheoesophageal fistula, Abnor... |
ORPHA:2591 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemia, Hypocalcemic seizures |
ORPHA:93324 |
Intermediate Osteopetrosis |
|
Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly |
ORPHA:210110 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... |
ORPHA:99832 |
Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Cryptorchidism, Anophthalmia, Cleft palate |
OMIM:164180 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp... |
ORPHA:131 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Reticular Dysgenesis |
|
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus |
OMIM:267500 |
Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
Ring Chromosome 10 Syndrome |
|
Microphthalmia, Aganglionic megacolon, Hypocalcemia |
ORPHA:1438 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Reduced radioactive iodine uptake, Increased circulating thyroglobulin level, Neonatal hyperbilir... |
ORPHA:90673 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly, Abnormal circulating calcium-phosphate regulating hormone concentrati... |
ORPHA:417 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Intestinal malrotation, Submucous cleft hard palate, Cleft palate, Hypocalcem... |
ORPHA:3426 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic... |
ORPHA:36913 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... |
OMIM:601198 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, Tracheal ste... |
ORPHA:93941 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Parathyroid Carcinoma |
|
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:608266 |
Hyperparathyroidism 4 |
|
Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia |
OMIM:617343 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog... |
ORPHA:226313 |
Hyperparathyroidism 1 |
|
Primary hyperparathyroidism, Hypercalcemia |
OMIM:145000 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:615234 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Hyperpigmentation of the skin, Anemia |
ORPHA:75563 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia |
ORPHA:77298 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Intestinal obstruction, Cryptorchidism, Hyperphosphatemia, Hypocalcemia, Cong... |
ORPHA:2323 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert... |
ORPHA:562 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent... |
OMIM:602390 |
Ascher Syndrome |
|
High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemi... |
OMIM:214900 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... |
ORPHA:163634 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Increased circulati... |
OMIM:603552 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... |
OMIM:225250 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Hyperbilirubine... |
OMIM:620010 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Hydrolethalus |
|
Tracheal atresia, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microp... |
ORPHA:2189 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Anophthalmia, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Eso... |
ORPHA:2538 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a... |
ORPHA:79301 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... |
OMIM:618183 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Celiac ... |
OMIM:619375 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Meckel Syndrome, Type 8 |
|
Microphthalmia, Anophthalmia, Cleft palate, Enlarged kidney |
OMIM:613885 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Conjugat... |
OMIM:619662 |
Kenny-Caffey Syndrome, Type 1 |
|
Congenital hypoparathyroidism, Hypocalcemia, Anemia, Hypomagnesemia |
OMIM:244460 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Increased circ... |
OMIM:616860 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia |
OMIM:259700 |
Blue Diaper Syndrome |
|
Abnormal abdomen morphology, Hypercalcemia, Abnormal circulating tryptophan concentration |
OMIM:211000 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Hypotonia-Cystinuria Syndrome |
|
Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test |
OMIM:606407 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... |
OMIM:615108 |
Grfoma |
|
Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Intermittent ... |
ORPHA:97261 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... |
ORPHA:913 |
Vipoma |
|
Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Intermittent ja... |
ORPHA:97282 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia |
ORPHA:1563 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Splenomegaly, Gastric varix, Cirrhosis, Reduced serum alpha-1-antitrypsin |
OMIM:613490 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis |
OMIM:145981 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Anencephaly 2 |
|
Anophthalmia, Median cleft palate |
OMIM:619452 |
Somatostatinoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97283 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Esophageal varix, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating thyroglobulin... |
OMIM:609152 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Decreased response to growth hormone stimulation test, Pseudohypoparathyroidism, Elev... |
ORPHA:94089 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter |
ORPHA:83601 |
Timothy Syndrome |
|
Hypothyroidism, Hypocalcemia, Cardiomegaly |
OMIM:601005 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... |
ORPHA:766 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Hyperparathyroidism, Hypercalcemia, Anemia |
ORPHA:2668 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... |
OMIM:615109 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Esophageal varix, Hepatic fibrosi... |
OMIM:617341 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
Ppoma |
|
Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma... |
ORPHA:97278 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosis with diffuse ... |
ORPHA:525731 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Malabsorption, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... |
OMIM:619846 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Hyperpigmentation of the skin, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue ... |
ORPHA:158029 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... |
ORPHA:652 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio... |
OMIM:602347 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Decreased serum iron, Esophageal stricture, Dysphagia, Anemia,... |
ORPHA:89842 |
Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology |
ORPHA:2849 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Papillary thyroid carcinoma, Adenocarcinoma of the s... |
ORPHA:733 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Microphthalmia, ... |
OMIM:127000 |
Generalized Eruptive Histiocytosis |
|
Hypereosinophilia, Lymphadenopathy, Spotty hyperpigmentation, Leukemia, Histiocytosis |
ORPHA:157991 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
OMIM:264700 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Splenomegaly, Hypopigmented skin patches, Lymphadenopathy, Irregular hyperpigmentat... |
ORPHA:2584 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Esophageal varix, Hepatosplenomegaly, Cirrhosis, Ascites |
OMIM:232500 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Macrocytic anemia, Decreased circulating cortisol level, H... |
ORPHA:199299 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... |
OMIM:300635 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... |
OMIM:158350 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl... |
OMIM:618963 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Cleft palate, ... |
OMIM:610125 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... |
OMIM:301035 |
Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Hypocalcemia, Anemia |
ORPHA:53 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Intestin... |
OMIM:243150 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, High palate, Hypocalcemia, Gastroesophageal ... |
OMIM:617913 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm of the liver, I... |
ORPHA:424019 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Lymphadenopathy, Inflammation of the larg... |
ORPHA:26790 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Celiac disease, Thyroiditis, Steatorrhea, Iron deficiency anemia, Hypocalcemia... |
OMIM:212750 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Generalized hyperpigmentation, Malabsorption, Splenomegaly, F... |
ORPHA:2930 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Hypermelanotic macule, Cryptorchidism, Male hypogonadism |
ORPHA:90322 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Partial albinism, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenop... |
ORPHA:79477 |
Trisomy 13 |
|
Anophthalmia, Cryptorchidism, High, narrow palate, Cleft palate, Aplasia/Hypoplasia of the iris, ... |
ORPHA:3378 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... |
OMIM:160980 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Cryptorchidism, High palate, Microphthalmia, Abnormality of the hypothalamus-pituit... |
ORPHA:139471 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto... |
OMIM:259720 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypercalcemia, Hypermagnesemia, Parathyroid adenoma, Pancreatitis |
OMIM:145980 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Abnormal i... |
ORPHA:397596 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Decreased circulating T... |
ORPHA:90674 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis, Hyperammonemia |
ORPHA:664 |
Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microphthalmia, Ascites,... |
ORPHA:858 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Incre... |
OMIM:235200 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Elevated circ... |
OMIM:239200 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Increased circulating free fatt... |
ORPHA:26793 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasi... |
ORPHA:85138 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,... |
ORPHA:381 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Hypop... |
ORPHA:99879 |
Glucagonoma |
|
Hepatomegaly, Acanthocytosis, Intermittent jaundice, Increased circulating cortisol level, Adreno... |
ORPHA:97280 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Familial Gestational Hyperthyroidism |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... |
OMIM:209950 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Hennekam Syndrome |
|
Lymphopenia, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lymphangiectasia, Lymphaden... |
ORPHA:2136 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... |
OMIM:147250 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Cholestasis, Hypocalcemia, Left ventricular hypertrophy, Diffuse hepatic stea... |
ORPHA:746 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... |
OMIM:269920 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Liver abscess, Neutrophilia, Elevated circulating C-reactive protein concentration, Abnormality o... |
ORPHA:54251 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells |
OMIM:269840 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Secondary hyperparathyroidism, Hypo... |
ORPHA:289157 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly, Eso... |
OMIM:614576 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... |
OMIM:300853 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Malabsorption, Sp... |
ORPHA:379 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent... |
OMIM:601847 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:424 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Hypocalcemia, Ne... |
ORPHA:175 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
Meckel Syndrome |
|
Accessory spleen, Anophthalmia, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, ... |
ORPHA:564 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... |
ORPHA:83469 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Esophageal varix, Hepatosplenomegaly, Hypoalbuminemia, Cirrhos... |
ORPHA:367 |
Anophthalmia Plus Syndrome |
|
Anophthalmia, Cleft palate, Bilateral cleft lip and palate |
ORPHA:1104 |
Methimazole Embryofetopathy |
|
Abnormality of the thyroid gland, Esophageal atresia, Hypothyroidism, Tracheoesophageal fistula |
ORPHA:1923 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Peptic ulcer, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... |
OMIM:600740 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy |
ORPHA:79292 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu... |
OMIM:300400 |
Colchicine Poisoning |
|
Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo... |
ORPHA:31824 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... |
OMIM:616858 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M... |
ORPHA:309854 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Vacterl With Hydrocephalus |
|
Anophthalmia, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Microphthalmia, Anal... |
ORPHA:3412 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... |
OMIM:612840 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Perianal abscess, Splenomegaly, Lymphadenitis... |
OMIM:618935 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt... |
ORPHA:231222 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Axillary freckling, Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia |
OMIM:171420 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Anal atresia, Gastrointestinal hemorrhage, Hyperthyroidism, Aganglionic megac... |
ORPHA:567 |
Walker-Warburg Syndrome |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Abnormal circulating cre... |
ORPHA:899 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased proportion of memory T cells, Increased B cell count, Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Hypophosphatemic rickets, Elevated circulating parathyroid ho... |
OMIM:612089 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym... |
OMIM:619991 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia |
OMIM:615085 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Optic nerve hypoplasia, Aplasia/Hypoplasia of the p... |
ORPHA:65288 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Right ventricular hypertrophy |
OMIM:616028 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Cryptorchidism, Hypercalcemia, Decreased response to growth hormone stimulation test, Adrenal hyp... |
OMIM:614732 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Unilateral cryptorchidism, Cleft palate, High palate, Microphthalmia |
OMIM:206920 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... |
OMIM:619924 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Congenital Respiratory-Biliary Fistula |
|
Tracheal stenosis, Abnormality of the liver |
ORPHA:2040 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... |
ORPHA:94093 |
Trisomy 1Q |
|
Cryptorchidism, Anophthalmia, Anal atresia, Cleft palate |
ORPHA:261344 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Thrombocytopeni... |
OMIM:617053 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Coach Syndrome 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen morphology, Esophageal varix, H... |
OMIM:216360 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant ... |
ORPHA:2137 |
Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Esophageal stenosis, Colitis, Bone marrow hypocellularity |
OMIM:615190 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, High palate |
ORPHA:66625 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Intestinal malrotation, Portal hypertension, Esophageal varix, Cholestasis, Bile du... |
OMIM:613658 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Anterior pituitary hypoplasia, Maternal diabetes, Optic nerve hypoplasia, ... |
ORPHA:3157 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Incre... |
OMIM:215600 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Acute colitis, Intestinal perforation, Leukocy... |
ORPHA:544482 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Pancytopenia, Esophageal stenosis, Aplastic anemia, Bone marrow hypocellularity, Oral leukoplakia |
OMIM:616553 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Villous atrophy, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:616050 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Esophageal stenosis, Hypermelanotic ma... |
ORPHA:1775 |
Cockayne Syndrome Type 1 |
|
Hepatomegaly, Anophthalmia, Hypermelanotic macule, Cryptorchidism, Increased blood urea nitrogen,... |
ORPHA:90321 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Cleft palate, Hypocalcemia, Tracheal stenosis |
OMIM:300712 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex... |
OMIM:167800 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... |
OMIM:171400 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Abnormality of the thyroid gland, E... |
ORPHA:209905 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction, Functional intestina... |
ORPHA:1333 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Bronchogenic Cyst |
|
Abnormal peritoneum morphology, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morpho... |
ORPHA:2357 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Hypocalcemia |
OMIM:607143 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert... |
ORPHA:465508 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Peritonitis, Elevated circulating creatinine ... |
ORPHA:36234 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Microcytic anemia, Lymphadenopathy, Hepato... |
OMIM:619750 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Cholera |
|
Hyponatremia, Achlorhydria, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
Aceruloplasminemia |
|
Refractory anemia, Diabetes mellitus, Decreased circulating ceruloplasmin concentration, Decrease... |
ORPHA:48818 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism, Cleft palate, Anemia, Hypocalcemia, Hyperbilirubinemia, Trach... |
ORPHA:163979 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia,... |
ORPHA:653 |
Charge Syndrome |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Par... |
OMIM:214800 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Freckling, Multinodular goiter, Hypermelanotic macule, Hypomelanotic macule |
OMIM:618373 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro... |
OMIM:614700 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia |
ORPHA:37748 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
OMIM:248450 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ... |
ORPHA:436159 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... |
ORPHA:84064 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia,... |
ORPHA:2785 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Anemia, Dysphagia, Abnormal esophagus m... |
OMIM:226600 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Cleft palate, Parathyroid hypoplasia, Hypocalcemia, Hypoca... |
ORPHA:2237 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ... |
OMIM:206900 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Steatorrhea, Hematoche... |
OMIM:613812 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ... |
OMIM:610199 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Hypochromic microcytic anemia, Iron deficiency anemia, Esophageal web, Dysphagia,... |
ORPHA:54028 |
Holoprosencephaly |
|
Hyponatremia, Diabetes mellitus, Diabetes insipidus, Anophthalmia, Median cleft lip and palate, C... |
ORPHA:2162 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Recurrent infection of the gastrointestinal tract, Autoimmune thromb... |
OMIM:608184 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... |
ORPHA:411634 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent infection of the gastrointestinal tract, Lymphadenopathy |
OMIM:605258 |
Microphthalmia, Syndromic 9 |
|
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplastic spleen |
OMIM:601186 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Hyperpigmentation of the skin, Esophageal stricture, Reticular hyp... |
OMIM:224230 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulating C-reactive protein concentr... |
OMIM:615688 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft hard palate, Cl... |
OMIM:192430 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... |
ORPHA:98848 |
Digeorge Syndrome |
|
Parathyroid agenesis, Decreased circulating parathyroid hormone level, Splenomegaly, Thrombocytop... |
OMIM:188400 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... |
OMIM:601859 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Hypomagnesemia, Hypermagnesemia, Iron deficiency ane... |
ORPHA:358 |
Cowden Syndrome |
|
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Hypo... |
ORPHA:201 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... |
ORPHA:507 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Anemia |
ORPHA:667 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Splen... |
OMIM:616100 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepatic steatosis, Hypoparath... |
OMIM:277900 |
Autosomal Dominant Hypocalcemia |
|
Irregular hyperpigmentation, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... |
OMIM:615122 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Elevated circulating C-reactive protein concentration, Asplenia, ... |
OMIM:614034 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Pleural Mesothelioma |
|
Hepatomegaly, Dysphagia, Lymphadenopathy |
ORPHA:50251 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hepatic calcification, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany |
ORPHA:73224 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism |
ORPHA:95712 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Primary hyperparathy... |
ORPHA:99880 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia |
OMIM:618107 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Hypersplenism,... |
ORPHA:275761 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Delayed puberty, Neutropenia, In... |
OMIM:232220 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Reticulated skin pigmentation, Esophageal stricture, Leukopenia, H... |
OMIM:613989 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia, Esophageal atresi... |
OMIM:227646 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Hypothyroi... |
OMIM:243800 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... |
OMIM:150550 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit... |
ORPHA:29073 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepatic fibrosis, Esoph... |
ORPHA:84081 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis |
OMIM:105200 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Peptic ulcer, Primary hyperparathy... |
ORPHA:143 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero... |
OMIM:617394 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Biliary atresia, Bone marrow hypocellularity |
OMIM:615272 |
Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Hepatitis, L... |
OMIM:304790 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, ... |
ORPHA:974 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Irregular hyperpigmentation, Abnormal lymphocyte mor... |
ORPHA:3162 |
Caspase 8 Deficiency |
|
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy |
OMIM:607271 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged l... |
ORPHA:449432 |
Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypergonadotropi... |
OMIM:203800 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Adrenal hyp... |
ORPHA:95409 |
Fanconi Anemia, Complementation Group B |
|
Optic disc hypoplasia, Hypergonadotropic hypogonadism, Aplastic anemia, Esophageal atresia, Trach... |
OMIM:300514 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Intestinal malrotation, Gastrointestinal atresia, Hepatitis, Intesti... |
ORPHA:436252 |
Nephroblastoma |
|
Aniridia, Neoplasm of the liver, Lymphadenopathy |
ORPHA:654 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr... |
ORPHA:98850 |
Acitretin/Etretinate Embryopathy |
|
High palate, Aplasia/Hypoplasia of the optic nerve, Hypoplasia of the thymus, Median cleft palate |
ORPHA:40366 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Abnormal ly... |
ORPHA:39041 |
Aspergillosis |
|
Eosinophilia, Hepatitis, Abnormal esophagus morphology, Neutropenia |
ORPHA:1163 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Bilateral microphthalmos, Anemia, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemic tetany, ... |
ORPHA:93325 |
Non-Syndromic Posterior Hypospadias |
|
Abnormality of the endocrine system, Cryptorchidism, Esophageal atresia, Cleft palate, Anal atres... |
ORPHA:95706 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, High, narrow palate, Pheochromocytoma, High palate, E... |
OMIM:162300 |
Hypophosphatasia |
|
Hypercalcemia, Anemia |
ORPHA:436 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Submucous cleft hard palate, Neoplasm of th... |
ORPHA:3047 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Abnorma... |
ORPHA:79456 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Cinca Syndrome |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:607115 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Hypocalcemia |
OMIM:618476 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia |
OMIM:613706 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy |
ORPHA:158014 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Hypogonadism, Microphtha... |
ORPHA:2250 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... |
OMIM:620133 |
Pancreatic Agenesis 2 |
|
Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in... |
OMIM:615935 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... |
OMIM:263300 |
Isotretinoin-Like Syndrome |
|
Lymphopenia, Gastroesophageal reflux, Hypocalcemia, Cleft palate |
ORPHA:2306 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Holoprosencephaly 9 |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:610829 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... |
OMIM:194380 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ... |
ORPHA:249 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma |
ORPHA:94080 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hyperthyroidism, Diabetes mellitus, Elevated circulating creatine kinase concentration, Abnormali... |
ORPHA:254892 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Colorectal polyposis, ... |
ORPHA:276399 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia, Absence of lymph node germinal center |
OMIM:606843 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... |
ORPHA:824 |
Felty Syndrome |
|
Hepatomegaly, Generalized hyperpigmentation, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bon... |
ORPHA:47612 |
Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia, Dysphagia |
OMIM:615636 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Pancreatoblastoma |
|
Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph nod... |
ORPHA:677 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, ... |
ORPHA:567983 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Malabsorption, Cryptorchidism, Leukocytosis, Lymphadenopathy, Acute l... |
ORPHA:99812 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache... |
OMIM:164280 |
Ethylene Glycol Poisoning |
|
Gastritis, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocy... |
OMIM:603553 |
Isolated Biliary Atresia |
|
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjugated hyperbilirubinemia, Cholest... |
ORPHA:30391 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morphology, Gastroe... |
ORPHA:1018 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Hepatomegaly, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Generalized hyperpigmentation, Malabsorp... |
ORPHA:3452 |
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis |
|
Tracheal stenosis, Decreased response to growth hormone stimulation test, Congenital hypothyroidism |
OMIM:601427 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Ulcerative colitis, Colitis, Decreased basophil count, Crohn's diseas... |
OMIM:618394 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, J... |
OMIM:214500 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Villous atrophy, Malabsorp... |
OMIM:557000 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... |
ORPHA:277 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchid... |
ORPHA:264200 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, A... |
ORPHA:160 |
Phace Association |
|
Microphthalmia, Optic nerve hypoplasia, Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Few cafe-au-lait spots, Hemolytic anemia, Decreased response to growth hormone stimulation test, ... |
OMIM:619503 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Branchiootorenal Syndrome 1 |
|
Intestinal malrotation, Cleft palate, Euthyroid goiter, High palate, Bifid uvula |
OMIM:113650 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Hypoplasia... |
OMIM:214110 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... |
OMIM:257200 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro... |
OMIM:617052 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Peritonitis, Recurrent tonsillitis, Cervical lymphadenopath... |
ORPHA:2686 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:612783 |
Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis, Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Microphthalmia, Hyperpigmented streaks, Thyroid C cell hyperplasia |
OMIM:300952 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ... |
ORPHA:829 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... |
OMIM:618372 |
Fanconi Anemia, Complementation Group L |
|
Anal atresia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Bone marrow hypocellul... |
OMIM:614083 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Increased circulati... |
ORPHA:540 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy |
ORPHA:99978 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... |
OMIM:260370 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Irreg... |
ORPHA:2969 |
Rhombencephalosynapsis |
|
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Anal... |
ORPHA:59315 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, High, narrow palate, Hepatic fibrosis, Hy... |
OMIM:218330 |
Campomelia, Cumming Type |
|
Hepatomegaly, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Abnormal intestine mor... |
ORPHA:1318 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Pancreatitis, Hypocalcemic ... |
ORPHA:405 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo... |
ORPHA:456312 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... |
OMIM:619644 |
Treacher-Collins Syndrome |
|
Cryptorchidism, Tracheoesophageal fistula, Cleft palate, Glossoptosis, Abnormality of the adrenal... |
ORPHA:861 |
Chromosome 17Q12 Duplication Syndrome |
|
Microphthalmia, Esophageal atresia, Cleft soft palate |
OMIM:614526 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... |
ORPHA:3392 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop... |
ORPHA:91138 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Cryptorchidism, Anophthalmia, High, narrow palate |
ORPHA:1101 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Lymphadenopathy, Achalasia |
ORPHA:3386 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Precocious puberty, Microphthalmia, Anophthalmia |
OMIM:615877 |
Cutaneous Mastocytoma |
|
Hypermelanotic macule, Hyperpigmentation of the skin, Lymphadenopathy |
ORPHA:79455 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Hypopigmented skin patches, Abnormality of skin pigmentation, Abnormal rectum morph... |
ORPHA:2556 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Le... |
OMIM:615895 |
Atelosteogenesis Type I |
|
Malrotation of colon, Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Cleft palate |
ORPHA:1190 |
Jung Syndrome |
|
Tracheal stenosis, Hypothyroidism |
ORPHA:2321 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne... |
OMIM:300908 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Cafe-au-lait spot, Du... |
OMIM:619227 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Rectal atresia, Hypoplasia of the thymus, Microphthalmia, Anal atresia |
OMIM:617666 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the liver, Abnormality of the adrenal glands, Abnormal parot... |
ORPHA:252164 |
Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Anemia |
OMIM:241500 |
Immunodeficiency 9 |
|
Hypoplasia of the thymus |
OMIM:612782 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... |
OMIM:602782 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... |
ORPHA:169090 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Clef... |
OMIM:219000 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Neutropenia, Steatorrhea, High palate, Hyperechogenic pancreas, ... |
OMIM:617941 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Tracheal stenosis |
OMIM:607015 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hyperpigmentation of the skin, Hypersplenism, Splenomegaly, Anemia, T... |
OMIM:230800 |
Papa Syndrome |
|
Type I diabetes mellitus, Crohn's disease, Lymphadenopathy |
ORPHA:69126 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Increased blood urea nitrogen, Episodic hemolytic anemia, Delayed puberty, Enlarge... |
ORPHA:251004 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Elevated circulating alpha-fetoprotein concentration, Ca... |
ORPHA:116 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ... |
ORPHA:1451 |
Vacterl/Vater Association |
|
Cryptorchidism, Abnormality of the pancreas, Abnormality of the gallbladder, Anorectal anomaly, T... |
ORPHA:887 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries |
ORPHA:371428 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Cryptorchidism, Eryt... |
OMIM:612541 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Anophthalmia, Intestinal malrotation, Supernumerary nipple, Hiatus hern... |
OMIM:305600 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Bilateral cryptorchidism, Esophageal atresia, Tracheoesophageal fistula |
OMIM:619859 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... |
OMIM:618641 |
Charge Syndrome |
|
Anophthalmia, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Tra... |
ORPHA:138 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectu... |
ORPHA:424016 |
Pheochromocytoma |
|
Cafe-au-lait spot, Pheochromocytoma, Hypercalcemia |
OMIM:171300 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy |
OMIM:619183 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Enlarged kidney |
OMIM:314390 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Lymphadenopathy, Enl... |
ORPHA:79078 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Intestinal malrotation, Adrenal hypoplasia, Cryptorchidism, Cleft palate, Microphthalmia, Abnorma... |
ORPHA:2166 |
Sarcoidosis |
|
Increased T cell count, Leukopenia, Hypopigmentation of the skin, Hypothyroidism, Hepatomegaly, H... |
ORPHA:797 |
Fibular Hemimelia |
|
Anophthalmia, Thrombocytopenia |
ORPHA:93323 |
Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... |
ORPHA:79124 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:617388 |
Legionnaires Disease |
|
Hyponatremia, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Ly... |
ORPHA:549 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia, Cleft palate, Narrow palate, High palate |
OMIM:605627 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... |
ORPHA:169154 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Adrenal ... |
ORPHA:139411 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Steatorrhea, Hepatic fibros... |
OMIM:616263 |
Phace Syndrome |
|
Optic nerve hypoplasia, Lens coloboma, Ectopic thyroid, Microphthalmia, Hypothyroidism |
ORPHA:42775 |
Hereditary Chronic Pancreatitis |
|
Diabetes mellitus, Elevated circulating C-reactive protein concentration, Leukocytosis, Jaundice,... |
ORPHA:676 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:29072 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cryptorchidism, Tracheal stenosis, Microphthalmia, Anal atresia |
ORPHA:3301 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Absent peripheral lymph nodes in presence of infection, Increased T cell count, Inflammation of t... |
ORPHA:98813 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:276621 |
Fraser Syndrome |
|
Anal stenosis, Anophthalmia, Cryptorchidism, Ectopic anus, High palate, Tracheal stenosis, Microp... |
ORPHA:2052 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:611881 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Portal hypertension, Microcytic anemia, Esopha... |
ORPHA:774 |
Poems Syndrome |
|
Diabetes mellitus, Hyperpigmentation of the skin, Abnormality of the endocrine system, Hypothyroi... |
ORPHA:2905 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Elevated circulating alpha-fetoprotein concentration, Splenome... |
OMIM:251880 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Hyperpigmentation of the skin, Microcytic anemia, Malabs... |
ORPHA:168569 |
Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Increased mean platelet volume, Splenomegaly, Abnormality of the p... |
OMIM:222470 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... |
OMIM:229850 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Peritonitis, Lymphadenopathy |
ORPHA:343 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Lymphadenopathy, ... |
OMIM:618048 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... |
ORPHA:464329 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Splenomegaly, Mediastinal... |
ORPHA:809 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer... |
ORPHA:98849 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Buphthalmos, Rieger anomaly, Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Lethal Congenital Contracture Syndrome 10 |
|
Cardiomegaly, Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus |
OMIM:617022 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Acu... |
OMIM:208900 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... |
OMIM:250250 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Spleno... |
ORPHA:822 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, High, narrow palate,... |
ORPHA:369837 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alpha-fetoprotein |
OMIM:226730 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Autoimmune Lymphoproliferative Syndrome |
|
Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg... |
ORPHA:3261 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia... |
ORPHA:466650 |
Monosomy 13Q34 |
|
Hematochezia, Hepatic steatosis, Hypercalcemia |
ORPHA:96168 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Irregular hyperpigmentation, Ascites |
ORPHA:36412 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating alpha-fetoprote... |
OMIM:276700 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Gastroesopha... |
OMIM:605039 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Esophageal varix, Hepato... |
ORPHA:2072 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplasm of the gallbladder, A... |
ORPHA:171 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Diabetes mellitus, Hypothyroidism, Jaundice, Pyloric stenosis, Aplasia/Hypoplasia of the pancreas... |
ORPHA:93111 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Jaundice, Increased ... |
OMIM:263700 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Tracheal stenosis, Cafe-au-lait spot, Cleft soft palate |
OMIM:620183 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Mounier-Kühn Syndrome |
|
Tracheal stenosis |
ORPHA:3347 |
Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Anemia, Gastrointestinal inflammation |
ORPHA:79409 |
Coffin-Siris Syndrome 11 |
|
Esophageal atresia, High palate, Bifid uvula, Cleft soft palate |
OMIM:618779 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Supernumerary nipple, Malrotation of colon, Cryptorchidism, Pyloric stenosis, Dupli... |
OMIM:113620 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Microphthalmia, A... |
OMIM:617925 |
Microphthalmia, Syndromic 6 |
|
Anophthalmia, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Microglossia, Cleft palate... |
OMIM:607932 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Dysphagia, Spotty hyperpigmentation,... |
OMIM:173650 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Esophageal stricture, Dysphagia |
OMIM:616029 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Normocytic anemia, Decreased circulating copper concentration, Sp... |
OMIM:300972 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph... |
ORPHA:1572 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... |
OMIM:210250 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Microphthalmia, Leukemia, Anophthalmia |
ORPHA:2526 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia,... |
OMIM:617591 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Pulmonary lymphangiectasia, Tracheoesophage... |
OMIM:265380 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Hypochlor... |
OMIM:601678 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Adrenal hypoplasia, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus... |
OMIM:613177 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Few cafe-au-lait spots, Optic nerve hypoplasia, High palate, Hypocalcemia, Bifid uvula |
OMIM:620330 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Hypopigmentation... |
ORPHA:167 |
Tracheal Agenesis |
|
Tracheal atresia |
ORPHA:3346 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Elevated ci... |
ORPHA:50918 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Adrenal insufficiency, Dysphagia |
OMIM:615510 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Adrenal insufficiency, Microphthalmia,... |
OMIM:300166 |
Boutonneuse Fever |
|
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy |
ORPHA:83313 |
Chronic Graft Versus Host Disease |
|
Pancytopenia, Esophageal stricture, Xerostomia, Abnormality of skin pigmentation, Abnormal esopha... |
ORPHA:99921 |
Graft Versus Host Disease |
|
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Gastrointestinal inflammation, ... |
ORPHA:39812 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... |
OMIM:617718 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia, Hyperpigment... |
ORPHA:293173 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Tracheobronchopathia Osteochondroplastica |
|
Tracheal stenosis, Esophagitis |
ORPHA:3348 |
Jacobsen Syndrome |
|
Cryptorchidism, Pyloric stenosis, Macular hypoplasia, Microphthalmia, Annular pancreas, Thrombocy... |
OMIM:147791 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Hypermelanotic macule, Elevated circulating C-reactive protein concentrat... |
ORPHA:32960 |
Scrub Typhus |
|
Splenomegaly, Lymphadenopathy |
ORPHA:83317 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hyperpigmentation of the skin, Reticulated skin pigmentatio... |
OMIM:305000 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Furrowed tongue, Lymphadenopathy |
ORPHA:2483 |
Distal Deletion 12Q |
|
Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, High, narrow ... |
ORPHA:96149 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... |
ORPHA:33226 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... |
OMIM:208500 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypopigmented skin patches, Hypogonadis... |
ORPHA:163746 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Gast... |
ORPHA:342 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Furrowed tongue, High palate, Gastroesophageal reflux, Multiple cafe-au-lait spot... |
OMIM:616975 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Esophageal stricture, High palate, Neutropenia, Lymphopenia |
OMIM:615816 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
High palate, Hypercalcemia |
ORPHA:476126 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Tracheal atresia |
OMIM:601612 |
Immunodeficiency 12 |
|
Esophageal stricture, Abnormal lymphocyte count |
OMIM:615468 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... |
OMIM:608189 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice, Biliary cirrhosis,... |
OMIM:613471 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Hypopigmented skin patches, Multiple cafe-au-lait spots, Tracheal stenosis, A... |
ORPHA:2637 |
Apert Syndrome |
|
Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplasm, Ectopic anus, Bifid uvula |
ORPHA:87 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multinodular goiter, Adenocarcinoma of the colon |
OMIM:620189 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Paget Disease Of Bone 2, Early-Onset |
|
Hypercalcemia |
OMIM:602080 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Peptic ulcer, Splenomegaly, Increased mean corpuscular h... |
ORPHA:90041 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypermelanotic macule, Autoimmune thrombocytopenia, Lymphadenopathy, Hypopigmented skin patches o... |
OMIM:607944 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Elevated circu... |
OMIM:619381 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Tracheal stenosis, Hepatosplenomegaly |
ORPHA:93352 |
Osteopetrosis, Autosomal Recessive 7 |
|
Splenomegaly, Hepatomegaly, Hypocalcemic seizures, Anemia |
OMIM:612301 |
Microphthalmia With Limb Anomalies |
|
Cryptorchidism, Cleft palate, High palate, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... |
ORPHA:100078 |
Rothmund-Thomson Syndrome, Type 2 |
|
Cryptorchidism, Anteriorly placed anus, Hypogonadism, High palate, Microphthalmia, Annular pancreas |
OMIM:268400 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Oral-pharyngeal dysphagia, Splenomegaly, Hypomagne... |
OMIM:219800 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Thrombocytopenia, Esophageal stricture, ... |
ORPHA:36426 |
Arima Syndrome |
|
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Hepatitis, Thyroiditis, Lymphadenopathy, Lymphocytosis |
ORPHA:139402 |
Trisomy 18 |
|
Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Microphthalmia, Anal atresia |
ORPHA:3380 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... |
ORPHA:906 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
Lymphatic Filariasis |
|
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... |
ORPHA:2035 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix, High palate |
ORPHA:394 |
Jacobsen Syndrome |
|
Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Duodenal atresia, Ectopic anus, Bone ma... |
ORPHA:2308 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia, Malabsorption |
ORPHA:289176 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Tracheal stenosis, Cryptorchidism, Anteriorly placed anus, Cleft palate |
OMIM:217980 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, High palate, Optic nerve hypoplasia |
ORPHA:141099 |
Kindler Epidermolysis Bullosa |
|
Esophageal stricture, Abnormality of skin pigmentation, Inflammation of the large intestine, Coli... |
ORPHA:2908 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Tracheal stenosis, Microphthalmia, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol |
OMIM:302960 |
Selective Igm Deficiency |
|
Decreased proportion of CD4-positive T cells, Stomach cancer, Autoimmune thrombocytopenia, Lympha... |
ORPHA:331235 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... |
OMIM:263520 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, ... |
OMIM:619534 |
Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Xerostomia, Cleft palate, Hypoplasia of th... |
ORPHA:1896 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... |
OMIM:600802 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Smooth tongue, Ectopic thyroid |
ORPHA:3206 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Annular pancreas, High palate |
OMIM:618162 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy |
ORPHA:52417 |
Apert Syndrome |
|
Cryptorchidism, Esophageal atresia, Pyloric stenosis, Narrow palate, Cleft palate, Ectopic anus, ... |
OMIM:101200 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal... |
ORPHA:449563 |
Hypomandibular Faciocranial Dysostosis |
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Tracheal stenosis, Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate |
ORPHA:1790 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Esophageal atresia, Cleft palate |
OMIM:610536 |
Williams Syndrome |
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Colonic diverticula, Hypogonadotropic hypogonadism, Hypercalcemia, Elevated circulating creatine ... |
ORPHA:904 |
1P36 Deletion Syndrome |
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Abnormality of the spleen, Cryptorchidism, Hypothyroidism, Pyloric stenosis, Abnormality of the l... |
ORPHA:1606 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
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Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Hepatomegaly, Decreased serum insulin-like growth factor 1, Decreased HDL cholesterol concentrati... |
ORPHA:77293 |
Brachytelephalangic Chondrodysplasia Punctata |
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Tracheal stenosis, Gastroesophageal reflux, Optic disc hypoplasia, Optic nerve hypoplasia |
ORPHA:79345 |
Q Fever |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Abn... |
ORPHA:781 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
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Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Hypoam... |
ORPHA:556955 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Pancreatic fibrosis |
OMIM:615503 |
Van Esch-O'Driscoll Syndrome |
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Esophageal atresia, Bifid uvula, Hypogonadotropic hypogonadism, Tracheoesophageal fistula |
OMIM:301030 |
Trisomy 8P |
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Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hypoplasia of the gallbladder, ... |
ORPHA:264450 |
Frontometaphyseal Dysplasia 2 |
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Cryptorchidism, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesophageal reflux, High... |
OMIM:617137 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia |
OMIM:619036 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Pallister-Hall Syndrome |
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Thyroid hypoplasia, Anal atresia, Adrenal hypoplasia, Precocious puberty, Cryptorchidism, Adrenoc... |
ORPHA:672 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Anal fissure, Abnormal circulating selenium concentration, Dysphagia, Gastrointestinal inflammati... |
ORPHA:79408 |
Smith-Lemli-Opitz Syndrome |
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Aganglionic megacolon, Cryptorchidism, Pyloric stenosis, Abnormality of the gallbladder, Bifid to... |
ORPHA:818 |
Feingold Syndrome Type 1 |
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Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Microphthalmia, Syndromic 1 |
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Anophthalmia, Aganglionic megacolon, Cryptorchidism, Rectal prolapse, High, narrow palate, Pylori... |
OMIM:309800 |
Autosomal Dominant Polycystic Kidney Disease |
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Polycystic liver disease, Hepatic cysts, Pancreatic cysts, Elevated circulating creatinine concen... |
ORPHA:730 |
Bohring-Opitz Syndrome |
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Cholelithiasis, Annular pancreas, Cleft palate, Cardiomegaly |
ORPHA:97297 |
Hydrolethalus Syndrome 1 |
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Accessory spleen, Cleft palate, Adrenal gland dysgenesis, Tracheal stenosis, Microphthalmia |
OMIM:236680 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pancreatic cysts, Pheochromocytoma, Hepatic hemangioma, Paraganglioma, ... |
OMIM:193300 |
Marburg Hemorrhagic Fever |
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Abnormality of the gastrointestinal tract, Reticulocytosis, Lymphopenia, Elevated circulating cre... |
ORPHA:99826 |
Schinzel-Giedion Syndrome |
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Streak ovary, Myeloid leukemia, Aganglionic megacolon, Central hypothyroidism, Anteriorly placed ... |
ORPHA:798 |
Geleophysic Dysplasia 3 |
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Tracheal stenosis, Hepatomegaly |
OMIM:617809 |
Lymphangioleiomyomatosis |
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Gastrointestinal hemorrhage, Abnormality of the lymphatic system, Lymphadenopathy, Abnormality of... |
ORPHA:538 |
Congenital Tracheomalacia |
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Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula, Cardiomegaly |
ORPHA:95430 |
Brucellosis |
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Abnormality of the gastrointestinal tract, Hepatomegaly, Liver abscess, Elevated circulating C-re... |
ORPHA:1304 |
Igg4-Related Kidney Disease |
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Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... |
ORPHA:449395 |
Crimean-Congo Hemorrhagic Fever |
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Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Elevated circulating creatine kinas... |
ORPHA:99827 |
Proteus Syndrome |
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Thymus hyperplasia, Generalized hyperpigmentation, Testicular neoplasm, Enlarged polycystic ovari... |
ORPHA:744 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperpigmentation of... |
OMIM:256040 |
Gabriele-De Vries Syndrome |
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Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Cryptorchidism,... |
ORPHA:506358 |
Williams-Beuren Syndrome |
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Colonic diverticula, Diabetes mellitus, Hypercalcemia, Portal hypertension, Celiac disease, Recta... |
OMIM:194050 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Primary Sjögren Syndrome |
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Normocytic anemia, Chronic active hepatitis, Thrombocytopenia, Xerostomia, Biliary cirrhosis, Thy... |
ORPHA:289390 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Biliary atresia, Congenital... |
ORPHA:2255 |
Sotos Syndrome |
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Hypopigmentation of the skin, Aganglionic megacolon, Hypercalcemia, Cryptorchidism, Hydrocele tes... |
ORPHA:821 |
Blau Syndrome |
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Hyperpigmentation of the skin, Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the live... |
ORPHA:90340 |
Granulomatosis With Polyangiitis |
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Tracheal stenosis, Granulomatosis |
OMIM:608710 |
Progeroid Short Stature With Pigmented Nevi |
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Esophageal ulceration, Diabetes mellitus, Delayed puberty |
OMIM:176690 |
Maternal Phenylketonuria |
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Esophageal atresia, High palate |
ORPHA:2209 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Esophageal stricture, Abnormal blood ion concentration, Anemia, Gastrointestinal inflammation |
ORPHA:79404 |
Larsen Syndrome |
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Tracheal stenosis, Cryptorchidism, Cleft palate |
OMIM:150250 |
Geleophysic Dysplasia 1 |
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Tracheal stenosis, Hepatomegaly |
OMIM:231050 |
Wiedemann-Rautenstrauch Syndrome |
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Hypertriglyceridemia, Cryptorchidism, Increased serum testosterone level, Hypoplasia of the thymu... |
OMIM:264090 |
Truncus Arteriosus |
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Adrenocortical abnormality, Hypoplasia of the thymus, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:3384 |
Craniofacial Microsomia 1 |
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Microphthalmia, Anophthalmia, Cleft palate |
OMIM:164210 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Cryptorchidism, Esophageal atresia, Congenital hepatic fibrosis, Ectopic anus, Bifid tongue, Anal... |
ORPHA:93271 |
Vater/Vacterl Association |
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Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:192350 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Asplenia, Cryptorchidism, Gastrointestinal dysmotility, Pyloric stenosis, ... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Aganglionic megacolon, Asplenia, Cryptorchidism, Pyloric stenosis, Cleft hard palate, Cleft palat... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Aganglionic megacolon, Asplenia, Cryptorchidism, Pyloric stenosis, Cleft hard palate, Cleft palat... |
ORPHA:261552 |