Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... |
ORPHA:100025 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cholestasis, Hypocalcemia, Jaundice |
ORPHA:172 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Follicular t... |
ORPHA:319487 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Goiter, Papillary thyroid carcinoma, Nodular goiter, Abnormality of the lymph nodes, Chronic noni... |
ORPHA:97290 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic fibrosis, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration, Chole... |
OMIM:619658 |
Igg4-Related Thyroid Disease |
|
Tracheal stenosis, Dysphagia, Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of th... |
ORPHA:64744 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hypercholesterolemia, Hepatic steatosis, Hepatosplenomegaly, Diabetes... |
OMIM:612526 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Absent tonsils, Lymph node hypoplasia |
OMIM:602450 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus, Duodenal atresia |
ORPHA:3004 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Pseudohypoparathyroidism Type 2 |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... |
ORPHA:94090 |
Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Hypocal... |
ORPHA:83471 |
Pseudohypoparathyroidism, Type Ii |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:203330 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, Lymphopenia, Abnormal T cell morphology |
OMIM:242700 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Carcinoma Of Esophagus |
|
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Lymphadenopathy, Barrett esophagus... |
ORPHA:70482 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic seizures, Hypoca... |
OMIM:618883 |
Anaplastic Thyroid Carcinoma |
|
Dysphagia, Goiter, Laryngotracheal stenosis, Lymphadenopathy, Anaplastic thyroid carcinoma, Nodul... |
ORPHA:142 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Parathyroid agenesis, Hypomagnesemia, Hypoc... |
ORPHA:2239 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter |
OMIM:274700 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Esophageal varix, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridem... |
ORPHA:75234 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia, Hypocalcemia |
DECIPHER:16 |
Refractory Celiac Disease |
|
Jejunitis, Macrocytic anemia, Hypoproteinemia, Normocytic anemia, Villous atrophy, Iron deficienc... |
ORPHA:398063 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Esophageal varix, Splenomegaly |
OMIM:617068 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma |
ORPHA:99976 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Thyroid Lymphoma |
|
Dysphagia, Goiter, Lymphadenopathy, Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis |
ORPHA:97285 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Decreased circulating parathyroid hormone level, Hypoparathyroidism, Hyperphosphatemia, Hypocalcemia |
OMIM:146200 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphosphatemia, Hypo... |
OMIM:603233 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly, Anemia, Jaundice |
OMIM:312500 |
Matthew-Wood Syndrome |
|
Microphthalmia, Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophtha... |
ORPHA:2470 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hypokalemia, Xerostomia, Hyperpigmentation of the skin, Gastrointestinal carcinoma, Anemia, Malab... |
OMIM:175500 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Hyperlipoproteinemia, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic ... |
OMIM:618495 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine deaminase level, Splenomegaly, Aplasi... |
OMIM:102700 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter |
OMIM:188570 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Hemochromatosis, Type 2B |
|
Increased serum iron, Hepatomegaly, Hepatic fibrosis, Hyperpigmentation of the skin, Anemia, Elev... |
OMIM:613313 |
X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Neutropenia, Abnormality of the lymphatic system, Hepatitis, Anemia, ... |
ORPHA:47 |
Gracile Bone Dysplasia |
|
Microphthalmia, Ascites, Asplenia, Aniridia, Ankyloglossia, Hypocalcemia, Hypoplastic spleen |
OMIM:602361 |
Burkitt Lymphoma |
|
Abnormality of the ovary, Abnormality of the spleen, Abnormality of the lymph nodes, Abnormality ... |
ORPHA:543 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... |
ORPHA:139507 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Hyperlipoproteinemia, Splenomegaly |
OMIM:615947 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Papillary thyroid carcinoma, Euthyroid multinodular goiter |
OMIM:138800 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Hypercalcemia, Pituitary null cell adenoma, Mediastinal lymphadenopathy,... |
ORPHA:97289 |
Thyroid Cancer, Nonmedullary, 4 |
|
Non-medullary thyroid carcinoma, Goiter |
OMIM:616534 |
Hypocalcemia, Autosomal Dominant 2 |
|
Hypocalcemia |
OMIM:615361 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Bangstad Syndrome |
|
Goiter, Insulin-resistant diabetes mellitus, Abnormally large globe, Pancytopenia, Primary gonada... |
OMIM:210740 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Odontoma-Dysphagia Syndrome |
|
Dysphagia, Abnormal esophagus morphology |
OMIM:164330 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Macroglossia, Increased radioacti... |
ORPHA:95716 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Hypercalcemia, Macroglossia, Splenomegaly, Hypothyroidism, Hypocalcemia, Cryptorchi... |
OMIM:618440 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Cryptorchidism, Microphthalmia |
OMIM:615524 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Permanent Congenital Hypothyroidism |
|
Goiter, Macroglossia, Hypothyroidism, Thyroid dysgenesis, Jaundice |
ORPHA:226292 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypophosphatemia, Hypocalcemia |
OMIM:619073 |
Medullary Thyroid Carcinoma |
|
Dysphagia, Lymphadenopathy, Nodular goiter, Abnormal liver parenchyma morphology, Medullary thyro... |
ORPHA:1332 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Ascites, Abnormal lymphatic vessel morphology, Functional abnormality of the gas... |
ORPHA:90362 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Hypogonadism, Increased circulating ferritin con... |
OMIM:615234 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Inappropriate antidiuretic hormone secretion, Increased serum serotonin,... |
ORPHA:100083 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Wolman Disease |
|
Hepatomegaly, Adrenal insufficiency, Esophageal varix, Ascites, Bone-marrow foam cells, Anemia, S... |
ORPHA:75233 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, Cleft palate, High palate, Ascites, Sp... |
OMIM:235255 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:221950 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Goiter, Thyroid hypoplasia, Macroglossia, Decreased ci... |
ORPHA:226316 |
Multiple Endocrine Neoplasia, Type I |
|
Adrenocortical adenoma, Zollinger-Ellison syndrome, Hypercalcemia, Adenoma sebaceum, Increased ci... |
OMIM:131100 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pulmonary lymphangiectasia, Hepatomegaly, Hypoproteinemia, High palate, Ascites, Splenomegaly, Ab... |
ORPHA:1655 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia, Parathyroid carcinoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Hurthle ... |
OMIM:145001 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Esophageal varix, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile... |
OMIM:618955 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
OMIM:619175 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Decreased prealbumin level, Neutropenia, Neutropenia in presence o... |
ORPHA:37042 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Hyperbilirubinemia, Nodu... |
ORPHA:64743 |
Pendred Syndrome |
|
Tracheal stenosis, Thyroid carcinoma, Goiter, Hyperparathyroidism, Hypothyroidism |
ORPHA:705 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Goiter |
OMIM:274300 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hep... |
OMIM:278000 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Hypopigmentation of the skin, Splenomegaly |
OMIM:618541 |
Myopathy, Tubular Aggregate, 2 |
|
Elevated circulating creatine kinase concentration, Hypocalcemia |
OMIM:615883 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cryptorchidism, Cleft palate, Microphthalmia |
OMIM:164180 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Congenital hypoparathyroidism, Hypocalcemic seizures, Hypocalcemia |
ORPHA:93324 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Intestinal malrotation, Jejunal atresi... |
OMIM:601346 |
Granulomatous Slack Skin |
|
Hypercalcemia, Abnormality of the lymph nodes |
ORPHA:33111 |
Monosomy 22 |
|
Aplasia of the thymus, Hepatosplenomegaly, High palate, Hypochromic microcytic anemia |
ORPHA:96123 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormal intestine morphology, Neoplasm of the pancreas, Intestinal obstruction, I... |
ORPHA:2591 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Ascites, Peritonitis, Malabsorption... |
ORPHA:131 |
Immunodeficiency 75 |
|
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... |
OMIM:619126 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Esophageal varix, Hepatocellular carcinoma, Ascites, Nodular regenerative hyperplas... |
OMIM:619463 |
Pseudohypoparathyroidism Type 1B |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalcemic seizures, Pseud... |
ORPHA:94089 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Cleft palate, Intestinal malrotation, Aplasia/Hypoplasia of the thymus, Hypoc... |
ORPHA:3426 |
Pearson Syndrome |
|
Adrenal insufficiency, Neutropenia, Hyperpigmentation of the skin, Hypophosphatemia, Splenomegaly... |
ORPHA:699 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Microphthalmia, Hypocalcemia |
ORPHA:1438 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Hypertriglyceridemia |
OMIM:614480 |
2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Congenital agranulocytosis, Leukopenia |
OMIM:267500 |
Hemoglobin H Disease |
|
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter |
OMIM:180295 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia, Hyperpho... |
ORPHA:36913 |
Hypomagnesemia 1, Intestinal |
|
Hypomagnesemia, Hypocalcemia |
OMIM:602014 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gla... |
ORPHA:417 |
Parathyroid Carcinoma |
|
Hypercalcemia, Parathyroid carcinoma, Hyperparathyroidism |
OMIM:608266 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Hyperbilirubinemia, Splenomegaly, Extr... |
OMIM:259720 |
Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Hypothyroidism, Goiter |
OMIM:274400 |
Timothy Syndrome |
|
Cardiomegaly, Hypothyroidism, Hypocalcemia |
OMIM:601005 |
Hyperparathyroidism 4 |
|
Hypercalcemia, Primary hyperparathyroidism, Parathyroid carcinoma |
OMIM:617343 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheal stenosis, Abnormality of the spleen, Abnormality of mesentery morphology, Tracheoesophag... |
ORPHA:93941 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Decreased circulating parathyroid hormone level, Hypomagnesemia, Hypocalcemia, Incre... |
OMIM:601198 |
Cirrhosis, Familial |
|
Increased level of propylene glycol in blood, Micronodular cirrhosis, Esophageal varix, Jaundice |
OMIM:215600 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Ascites, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypothyroidism, Hypoal... |
OMIM:618183 |
Hyperparathyroidism 1 |
|
Hypercalcemia, Primary hyperparathyroidism |
OMIM:145000 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Intestinal obstruction, Hypocalcemia, Cryptorc... |
ORPHA:2323 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Goiter, Hypothyroidism, Thrombocytopenia |
ORPHA:83601 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Macroglossia, Decreased circulating T4 level, Elevated circula... |
ORPHA:226313 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Congenital hypoparathyroidism, Hypocalcemic seizures, Decreased response to growth hormone stimul... |
OMIM:241410 |
Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Hypocalcemia |
ORPHA:2238 |
Congenital Hypothyroidism |
|
Goiter, Macroglossia, Hypogonadism, Intestinal obstruction, Tracheoesophageal fistula, Abnormalit... |
ORPHA:442 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:206400 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... |
ORPHA:444463 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of... |
OMIM:237800 |
X-Linked Sideroblastic Anemia |
|
Hyperpigmentation of the skin, Anemia, Abnormality of iron homeostasis, Splenomegaly |
ORPHA:75563 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Esophageal atresia, Tracheoesophageal fistula, Cryptorchidism |
ORPHA:77298 |
Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Anophthalmia, Microphthalmia |
OMIM:600776 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Hyperlipidemia, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... |
OMIM:214900 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Hyperam... |
OMIM:271500 |
Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
Anencephaly 2 |
|
Median cleft palate, Anophthalmia, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Goiter, Increased circulating cortisol level, Hepatitis, Hypo... |
ORPHA:562 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Cleft palate, Microphthalmia |
OMIM:613885 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Hyperthyroidism, Goiter |
OMIM:613239 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatospleno... |
OMIM:613101 |
Ascher Syndrome |
|
Hypothyroidism, High palate, Goiter |
ORPHA:1253 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of class-switched memory B cells, Celiac disease, Decreased pr... |
OMIM:619375 |
Hemochromatosis, Type 2A |
|
Increased serum iron, Hepatomegaly, Hyperpigmentation of the skin, Hypogonadotropic hypogonadism,... |
OMIM:602390 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly |
OMIM:183350 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Acholic stools, Annular pancreas, Malabsorption, Intesti... |
OMIM:615710 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Hyperthyroidism, Goiter |
OMIM:188580 |
Rhabdoid Tumor |
|
Hypercalcemia, Lymphadenopathy, Anemia, Neoplasm of the liver, Thrombocytopenia |
ORPHA:69077 |
Immunodeficiency 84 |
|
B lymphocytopenia, Perianal abscess, Splenomegaly |
OMIM:619437 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Increased circulating ferritin ... |
OMIM:603552 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... |
ORPHA:79301 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia |
OMIM:248450 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of skin pigmentation, Hyperl... |
ORPHA:1414 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Dysphagia, Goiter, Neoplasm of the adrenal c... |
ORPHA:163634 |
Immunodeficiency 76 |
|
B lymphocytopenia, Colitis, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, B... |
OMIM:607616 |
Graves Disease, Susceptibility To, 1 |
|
Graves disease, Goiter, Abnormal abdomen morphology |
OMIM:275000 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis |
OMIM:618852 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Grfoma |
|
Neoplasm of the thymus, Increased circulating cortisol level, Neoplasm of the small intestine, In... |
ORPHA:97261 |
Hydrolethalus |
|
Cleft palate, Microphthalmia, Anophthalmia, Bifid uvula, Tracheal atresia, Cryptorchidism, Submuc... |
ORPHA:2189 |
Vipoma |
|
Normochromic anemia, Increased circulating cortisol level, Primary hyperparathyroidism, Diabetes ... |
ORPHA:97282 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Myxedema |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter |
OMIM:255900 |
Blue Diaper Syndrome |
|
Hypercalcemia, Abnormal circulating tryptophan concentration, Abnormal abdomen morphology |
OMIM:211000 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary cort... |
ORPHA:913 |
Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Anemia, Splenomegaly, Hypocalcemia, Pancytopenia, Thrombocytopenia |
OMIM:259700 |
Omenn Syndrome |
|
Hepatomegaly, B lymphocytopenia, Hypoproteinemia, Lymphadenopathy, Hypoplasia of the thymus, Anem... |
OMIM:603554 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Kenny-Caffey Syndrome, Type 1 |
|
Hypomagnesemia, Congenital hypoparathyroidism, Anemia, Hypocalcemia |
OMIM:244460 |
Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Hypergonadotropic hypogonadism |
OMIM:606407 |
Somatostatinoma |
|
Increased circulating cortisol level, Neoplasm of the small intestine, Primary hyperparathyroidis... |
ORPHA:97283 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Mast Cell Sarcoma |
|
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis |
ORPHA:66661 |
Kimura Disease |
|
Abnormal salivary gland morphology, Eosinophilia, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Hypothyroidism, Hypocalcemia |
ORPHA:1563 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... |
OMIM:616860 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Perineal fistula, Microgastria, Hepatomegaly, Microphthalmia, Rectovag... |
ORPHA:2538 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hepatic fibrosis, Esophageal varix, Bile duct proliferation, Cirrhosis, Hypercholes... |
OMIM:619662 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
Ppoma |
|
Increased circulating cortisol level, Neoplasm of the small intestine, Intestinal carcinoid, Prim... |
ORPHA:97278 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Hypervitaminosis A, Susceptibility To |
|
Abnormality of the liver, Hypercalcemia, Ascites |
OMIM:240150 |
Cowden Syndrome 5 |
|
High palate, Goiter, Furrowed tongue, Thyroid adenoma, Colonic diverticula, Hyperthyroidism, Thyr... |
OMIM:615108 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hypercalcemia, Hyperparathyroidism |
ORPHA:2668 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Asplenia, Anophthalmia, Splenogonadal fusion, Intestinal mal... |
OMIM:156810 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... |
OMIM:619350 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism |
OMIM:225250 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Pancreatic cysts, Esophageal varix, Hepatic cysts, Splenomegaly, Portal hypertensio... |
OMIM:263200 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, A... |
OMIM:613673 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... |
ORPHA:457059 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Mediastinal lymphadenopathy, Hyperpigmentation of the skin, Hypopigmentation of the... |
ORPHA:158029 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Malabsorption, Splenomegaly |
ORPHA:42642 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Galactosemia Iii |
|
Jaundice, Hepatomegaly, Hypergalactosemia, Splenomegaly |
OMIM:230350 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... |
OMIM:603902 |
Fanconi Anemia, Complementation Group L |
|
Cleft palate, Microphthalmia, Anemia, Bone marrow hypocellularity, Esophageal atresia, Anal atres... |
OMIM:614083 |
Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Thyroid carcinoma, Freckling, Pituitary adenoma, Profuse pigmente... |
OMIM:160980 |
Cowden Syndrome 6 |
|
High palate, Goiter, Furrowed tongue, Thyroid adenoma, Colonic diverticula, Hyperthyroidism, Thyr... |
OMIM:615109 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Peptic ulcer |
OMIM:145981 |
Perlman Syndrome |
|
Hepatomegaly, High, narrow palate, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia |
ORPHA:2849 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Lactose intolerance, Dysphagia, Esophageal furrows, Esophagitis, Abnormal peristalsis, Esophageal... |
ORPHA:411696 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Increased total iron bin... |
OMIM:616278 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Increased circulating T4 level, Goiter, Neutropenia in presence of anti-neutropil a... |
ORPHA:525731 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Ascites, Anemia, Thrombocytopenia |
ORPHA:2123 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Lymphadenopathy, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:615895 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Classic Mycosis Fungoides |
|
Hypopigmented skin patches, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Spleno... |
ORPHA:2584 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... |
OMIM:133180 |
Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly |
OMIM:615593 |
Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Hyperpigmentation of the skin, Splenomegaly, Increased... |
OMIM:618892 |
Immunodeficiency 54 |
|
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Hyperpigmentation of the skin, Splenomegaly... |
OMIM:609981 |
Familial Isolated Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphatemia, Primary hyperpar... |
ORPHA:99879 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Microphthalmia, Anemia, Hypocalcemia, Transient hypophosphatemia, Hyperphosph... |
OMIM:127000 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Increased circulating ferritin concentration,... |
OMIM:618963 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Mele... |
ORPHA:652 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Dysphagia, Abnormal esophagus physiology, Abnormal large intestine morphology, Esop... |
ORPHA:2198 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Inflammation of the large intestine, Colitis, Hepatitis, Splenomegaly, Increased ci... |
OMIM:300635 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Albers-Schönberg Osteopetrosis |
|
Anemia, Abnormal leukocyte morphology, Hypocalcemia |
ORPHA:53 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase conce... |
OMIM:616828 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Trisomy 13 |
|
High, narrow palate, Cleft palate, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, ... |
ORPHA:3378 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Glycogen Storage Disease Iv |
|
Esophageal varix, Ascites, Cirrhosis, Hepatosplenomegaly, Portal hypertension |
OMIM:232500 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Caroli Disease |
|
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Esophagea... |
ORPHA:53035 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Hypoparathyroidism, Hyponatremia, Normocytic anemia, Hypercalcemia, Celiac dis... |
ORPHA:199299 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Hypoplasia of the thymus, Intestinal malrotation, Hematochezia, Intestinal a... |
OMIM:243150 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Goiter, Adenomato... |
ORPHA:733 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Anophthalmia, Male hypogonadism, Cryptorchidism, Hypermelanotic macule |
ORPHA:90322 |
Microphthalmia, Syndromic 5 |
|
Cleft palate, Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Ectopic poste... |
OMIM:610125 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Pancreatitis, Hyperparathyroidism, Hypermagnesemia, Parathyroid adenoma |
OMIM:145980 |
Follicular Lymphoma |
|
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly |
ORPHA:545 |
Cowden Syndrome 1 |
|
High palate, Goiter, Furrowed tongue, Thyroid adenoma, Colonic diverticula, Hyperthyroidism, Ovar... |
OMIM:158350 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Thyroid hypoplasia, Inappropriately normal thyroid-stimulating hormone level, Decreased circulati... |
OMIM:301035 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Dysphagia, Decreased serum zinc, Anemia, Decreased serum iron, Abnormal circulat... |
ORPHA:89842 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypophosphatemia, Hypocalcemia |
ORPHA:89937 |
Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Goiter, Neonatal hyperbilirubinemia, Thyroid hypoplasia, Macroglossia, Abnormal c... |
ORPHA:90674 |
Microphthalmia, Syndromic 3 |
|
Microphthalmia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Esophageal a... |
OMIM:206900 |
Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Lymphadenopathy, Abnormality of the peritoneum, Int... |
ORPHA:26790 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:100024 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... |
OMIM:275200 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Hepatocellular carcinoma, Esophageal varix, Elev... |
ORPHA:370 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microphthalmia, Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Crypto... |
ORPHA:139471 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Stomach cancer, Generalized hyperpigmentation, Abnormality of skin pigmentation, Ga... |
ORPHA:2930 |
Addison Disease |
|
Androgen insufficiency, Hyperpigmentation of the skin, Adrenal hypoplasia, Type I diabetes mellit... |
ORPHA:85138 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Increased circulating thyroglobulin level, C... |
ORPHA:90673 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypercalcemia, Decreased circulat... |
ORPHA:94086 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Partial albinism, Neutropenia, Hyperlipidemia, Lymphadenopathy, Splenomegaly, Pancy... |
ORPHA:79477 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating free T3, Thyroid hypoplasia, Abnormal circulating thyroglobulin level, Pitu... |
ORPHA:99832 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Lymphadenopathy, Neo... |
ORPHA:424019 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Hypophosphatemia, Hypocalcemia |
ORPHA:93160 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hyperammonemia, Splenomegaly |
ORPHA:664 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, I... |
OMIM:602347 |
Alpha-Thalassemia |
|
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... |
ORPHA:846 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Oculocerebrodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
Glucagonoma |
|
Normochromic anemia, Increased circulating cortisol level, Primary hyperparathyroidism, Gastroint... |
ORPHA:97280 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormality of the lymphatic system, Anemia, Abnormality of the lymph nodes, Abnormality of the p... |
ORPHA:54251 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Increased serum iron, Hepatocellular carcinoma, Ascites, Hyperp... |
OMIM:235200 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... |
OMIM:615559 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Mastocytosis |
|
Hepatomegaly, Hypercalcemia, Acute leukemia, Abnormality of skin pigmentation, Chronic leukemia, ... |
ORPHA:98292 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly |
ORPHA:228312 |
Immunodeficiency 52 |
|
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... |
OMIM:617514 |
Celiac Disease, Susceptibility To, 1 |
|
Thrombocytosis, Macrocytic anemia, Celiac disease, Iron deficiency anemia, Thyroiditis, Steatorrh... |
OMIM:212750 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice |
OMIM:224100 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hepatomegaly, Hypercalcemia, Calcinosis, Anemia, ... |
OMIM:239200 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Asplenia, Annular pancreas, Volvulus, Intestinal malrot... |
ORPHA:210122 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Diffuse hepatic steatosis, Left ventricular hypertrophy, Cholestasis, Hypocal... |
ORPHA:746 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... |
OMIM:612462 |
Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:99819 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... |
ORPHA:379 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypercalcemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Adrenal hyp... |
OMIM:614732 |
Candidiasis, Familial, 2 |
|
Lymphadenopathy, Hypereosinophilia, Decreased serum iron |
OMIM:212050 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Mel... |
ORPHA:480520 |
Pseudohypoparathyroidism Type 1C |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79444 |
Immunodeficiency 14A, Autosomal Dominant |
|
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... |
OMIM:615513 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Microphthalmia, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Thrombocytopenia, J... |
ORPHA:858 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Elevated circulating parathyroid hormone level, Hypocalcemic seizures, Secondary hyperparathyroid... |
ORPHA:289157 |
Griscelli Syndrome |
|
Hypopigmented skin patches, Hepatomegaly, Pyloric stenosis, Ascites, Leukopenia, Lymphadenopathy,... |
ORPHA:381 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Immunodeficiency 27A |
|
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... |
OMIM:209950 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... |
ORPHA:26793 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Hypophosphatemia, Hyperparathyroid... |
OMIM:612089 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hyp... |
OMIM:147250 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:424 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Splenomegaly |
ORPHA:79238 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... |
OMIM:619220 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, High palate, Ascites, Vacuolated lymphocytes, Cardiomegaly, Hypopigmentation of the... |
OMIM:269920 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... |
OMIM:208540 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hypercalcemia, Hyperparathyroidism |
OMIM:239199 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Reduced natural killer cell count, Hepatosplenomegaly |
OMIM:618261 |
Meckel Syndrome |
|
Cleft palate, Microphthalmia, Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Anophthalm... |
ORPHA:564 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Esophageal varix, Elevated circulating creatine ... |
ORPHA:264580 |
Duodenal Atresia |
|
Abnormality of the pancreas, Duodenal atresia, Annular pancreas |
ORPHA:1203 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Hypocalcemia |
OMIM:607143 |
Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
Colchicine Poisoning |
|
Leukocytosis, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Hypocalcemia, Abnormal... |
ORPHA:31824 |
Cartilage-Hair Hypoplasia |
|
Tracheal stenosis, Hepatomegaly, Aganglionic megacolon, Neutropenia, Anemia, Malabsorption, Abnor... |
ORPHA:175 |
Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... |
OMIM:618534 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Inflammation of the large intestine, Esophageal varix, Elevated circulating creatin... |
OMIM:614576 |
Hennekam Syndrome |
|
Pulmonary lymphangiectasia, Pyloric stenosis, Ascites, Lymphadenopathy, Lymphangioma, Malabsorpti... |
ORPHA:2136 |
Coproporphyria, Hereditary |
|
Jaundice, Hepatomegaly, Increased fecal coproporphyrin 3, Splenomegaly |
OMIM:121300 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Anteriorly placed anus, Anal stenosis, Microphthalmia |
ORPHA:2717 |
Desmoplastic Small Round Cell Tumor |
|
Hepatomegaly, Ovarian neoplasm, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Neoplasm o... |
ORPHA:83469 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... |
OMIM:612840 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypogonadism, Pseudohypopara... |
OMIM:103580 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia, Neonatal insulin-dependent diabetes m... |
ORPHA:65288 |
Immunodeficiency 7 |
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Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
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Pancytopenia, Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix |
OMIM:617341 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
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Multinodular goiter |
OMIM:618373 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
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Hypercalcemia, Pheochromocytoma, Axillary freckling, Cafe-au-lait spot |
OMIM:171420 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, I... |
OMIM:601847 |
Fish-Eye Disease |
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Lymphadenopathy, Hepatomegaly, Decreased HDL cholesterol concentration, Splenomegaly |
ORPHA:79292 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Lymphadenopathy, Lymphadenitis, Splenomegaly, Crohn's disease, Hepatosplenomegaly, Impaired oxida... |
OMIM:618935 |
Feingold Syndrome |
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Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas |
ORPHA:1305 |
Anophthalmia Plus Syndrome |
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Bilateral cleft lip and palate, Anophthalmia, Cleft palate |
ORPHA:1104 |
Methimazole Embryofetopathy |
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Hypothyroidism, Tracheoesophageal fistula, Esophageal atresia, Abnormality of the thyroid gland |
ORPHA:1923 |
Vacterl With Hydrocephalus |
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Microphthalmia, Anophthalmia, Esophageal atresia, Anal atresia, Tracheoesophageal fistula, Crypto... |
ORPHA:3412 |
Fanconi Anemia, Complementation Group Q |
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Biliary atresia, Bone marrow hypocellularity, Esophageal atresia |
OMIM:615272 |
Walker-Warburg Syndrome |
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Cleft palate, Abnormal circulating creatine kinase concentration, Microphthalmia, Anophthalmia, B... |
ORPHA:899 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... |
OMIM:300853 |
Beta-Thalassemia Intermedia |
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Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Beta-Thalassemia |
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Hepatomegaly, Abnormality of iron homeostasis, Hypogonadotropic hypogonadism, Hepatitis, Abnormal... |
ORPHA:848 |
22Q11.2 Deletion Syndrome |
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Hypopigmented skin patches, Hypoparathyroidism, Cleft palate, Aganglionic megacolon, Microphthalm... |
ORPHA:567 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
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Hypercalcemia, Hypophosphatemia, Pancreatitis, Primary hyperparathyroidism, Hypermagnesemia, Pept... |
OMIM:600740 |
Peutz-Jeghers Syndrome |
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Rectal prolapse, Abnormality of the gallbladder, Stomach cancer, Gastrointestinal infarctions, Ne... |
ORPHA:2869 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Macroglossia, Hyperbiliru... |
OMIM:218700 |
Autosomal Recessive Polycystic Kidney Disease |
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Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Esophageal varix, Spl... |
ORPHA:731 |
Congenital Respiratory-Biliary Fistula |
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Abnormality of the liver, Tracheal stenosis |
ORPHA:2040 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
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Hepatomegaly, Esophageal varix, Ascites, Cirrhosis, Hepatosplenomegaly, Hypoalbuminemia, Portal h... |
ORPHA:367 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Hepatomegaly, Decreased circulating ferritin concentration, Esophageal varix, Polycythemia, Micro... |
ORPHA:309854 |
Neuroleptic Malignant Syndrome |
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Hyperkalemia, Leukocytosis, Dysphagia, Thrombocytosis, Hyponatremia, Hypernatremia, Elevated circ... |
ORPHA:94093 |
Microphthalmia With Limb Anomalies |
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Anophthalmia, High palate, Cleft palate, Microphthalmia |
OMIM:206920 |
Immunodeficiency 72 With Autoinflammation |
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Increased B cell count, Hepatosplenomegaly, Increased proportion of memory T cells, Lymphadenopathy |
OMIM:618982 |
Gaucher Disease Type 2 |
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Hepatomegaly, Dysphagia, Splenomegaly |
ORPHA:77260 |
Pseudohypoparathyroidism Type 1A |
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Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Calcinosis, Hypocalcemic sei... |
ORPHA:79443 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... |
OMIM:211600 |
Ghosal Hematodiaphyseal Dysplasia |
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Anemia, Splenomegaly |
ORPHA:1802 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hepatomegaly, Giant cell hepatitis, Acholic stools, Hypocholesterolemia, Hyperbilirubinemia, Sple... |
OMIM:607765 |
Severe Combined Immunodeficiency, X-Linked |
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Hepatomegaly, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutini... |
OMIM:300400 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Lymphadenopathy, Recurrent infection of the gastrointestinal tract |
OMIM:605258 |
Renal Tubular Acidosis, Distal, 1 |
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Hypocalcemia |
OMIM:179800 |
Pallister-Hall Syndrome |
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Cleft palate, Microphthalmia, Decreased response to growth hormone stimulation test, Microglossia... |
OMIM:146510 |
Congenital Disorder Of Glycosylation, Type Ik |
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Hypogonadism, Hepatomegaly, Splenomegaly |
OMIM:608540 |
Symptomatic Form Of Hemochromatosis Type 1 |
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Testicular atrophy, Hepatomegaly, Abnormality of iron homeostasis, Generalized bronze hyperpigmen... |
ORPHA:465508 |
Infection-Related Hemolytic Uremic Syndrome |
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Hyperkalemia, Leukocytosis, Hyponatremia, Gastrointestinal infarctions, Acute colitis, Intestinal... |
ORPHA:544482 |
Adams-Oliver Syndrome 5 |
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Right ventricular hypertrophy, Hypersplenism, Esophageal varix, Splenomegaly |
OMIM:616028 |
Craniofacioskeletal Syndrome |
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Tracheal stenosis, Cleft palate, Absent gallbladder, Hypocalcemia, Cryptorchidism |
OMIM:300712 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Nonsphe... |
OMIM:235700 |
Cowden Syndrome 7 |
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Goiter, Papillary thyroid carcinoma, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinom... |
OMIM:616858 |
Genetic Recurrent Myoglobinuria |
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Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia |
ORPHA:99845 |
Autoimmune Hepatitis |
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Inflammation of the large intestine, Ulcerative colitis, Hepatocellular carcinoma, Ascites, Fulmi... |
ORPHA:2137 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Pten Hamartoma Tumor Syndrome |
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Thyroid carcinoma, Multinodular goiter, Freckling, Thyroid adenoma, Colon cancer |
ORPHA:306498 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
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Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphosphatemia, Parathyroid hyp... |
OMIM:617994 |
Osteopetrosis With Renal Tubular Acidosis |
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Hepatomegaly, High palate, Leukopenia, Elevated circulating creatine kinase concentration, Second... |
ORPHA:2785 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
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Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Familial Pancreatic Carcinoma |
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Intestinal pseudo-obstruction, Peritoneal abscess, Lymphadenopathy, Functional intestinal obstruc... |
ORPHA:1333 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Tracheal stenosis, Cleft palate, Anemia, Hyperbilirubinemia, Absent gallbladder, Hypocalcemia, Th... |
ORPHA:163979 |
Wilson Disease |
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Hepatomegaly, Hypoparathyroidism, Dysphagia, High nonceruloplasmin-bound serum copper, Esophageal... |
OMIM:277900 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... |
OMIM:615631 |
Coach Syndrome 1 |
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Hepatomegaly, Hepatic fibrosis, Esophageal varix, Splenomegaly, Cirrhosis, Intrahepatic bile duct... |
OMIM:216360 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... |
ORPHA:158057 |
Charge Syndrome |
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Cleft palate, Duodenal atresia, Decreased response to growth hormone stimulation test, Microphtha... |
OMIM:214800 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
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Hepatomegaly, Hepatic fibrosis, Splenomegaly |
OMIM:616719 |
Cerebrooculonasal Syndrome |
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Anophthalmia, High palate |
ORPHA:66625 |
Autoinflammation With Infantile Enterocolitis |
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Hypoalbuminemia, Villous atrophy, Anemia, Splenomegaly, Reduced natural killer cell count, Increa... |
OMIM:616050 |
Familial Cold Autoinflammatory Syndrome 2 |
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Lymphadenopathy, Leukocytosis, Elevated circulating C-reactive protein concentration, Splenomegaly |
OMIM:611762 |
Bacterial Toxic-Shock Syndrome |
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Increased circulating myelocyte count, Peritonitis, Elevated circulating creatine kinase concentr... |
ORPHA:36234 |
Microphthalmia, Syndromic 9 |
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Anophthalmia, Bilateral microphthalmos, Multilobulated spleen, Cryptorchidism, Hypoplastic spleen |
OMIM:601186 |
Pancreatitis, Hereditary |
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Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... |
OMIM:167800 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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High palate, Unconjugated hyperbilirubinemia, Esophageal varix, Ascites, Bile duct proliferation,... |
OMIM:613658 |
Mirage Syndrome |
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Hyperkalemia, Hyponatremia, Adrenal insufficiency, Leukopenia, Anemia, Achalasia, Esophageal stri... |
OMIM:617053 |
Multiple Endocrine Neoplasia Type 2 |
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Elevated circulating parathyroid hormone level, Paraganglioma of head and neck, Pheochromocytoma,... |
ORPHA:653 |
Brain-Lung-Thyroid Syndrome |
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Hypoparathyroidism, Congenital hypothyroidism, Thyroid hemiagenesis, Elevated circulating thyroid... |
ORPHA:209905 |
Spherocytosis, Type 1 |
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Hemolytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosi... |
OMIM:182900 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Hypoparathyroidism, Cleft palate, Hypocalcemic seizures, Parathyroid hypoplasia, Diabetes mellitu... |
ORPHA:2237 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Anophthalmia, Microphthalmia, Precocious puberty |
OMIM:615877 |
Dominant Beta-Thalassemia |
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Adrenal insufficiency, Hyperpigmentation of the skin, Splenomegaly, Hypersplenism, Hepatosplenome... |
ORPHA:231226 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Nephronophthisis 19 |
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Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis |
OMIM:616217 |
Cockayne Syndrome Type 1 |
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Hepatomegaly, Anophthalmia, Anemia, Male hypogonadism, Increased blood urea nitrogen, Cryptorchid... |
ORPHA:90321 |
Gray Platelet Syndrome |
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Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
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Lymphadenopathy |
OMIM:617772 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
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Esophageal stenosis, Colitis, Bone marrow hypocellularity, Leukopenia |
OMIM:615190 |
Syndromic Diarrhea |
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Hepatomegaly, Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hepatic fibrosis, ... |
ORPHA:84064 |
Indolent Systemic Mastocytosis |
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Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... |
ORPHA:98848 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Elevated circulating parathyroid hormone level, Hypercalcemia, Dysphagia, Thyroid carcinoma, Panc... |
ORPHA:99880 |
Schnitzler Syndrome |
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Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly |
ORPHA:37748 |
Cholera |
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Hyponatremia, Hypokalemia, Achlorhydria, Hypocalcemia, Abnormal blood ion concentration |
ORPHA:173 |
Septo-Optic Dysplasia Spectrum |
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Maternal diabetes, Cleft palate, Diabetes insipidus, Septo-optic dysplasia, Optic nerve hypoplasi... |
ORPHA:3157 |
Juvenile Nephropathic Cystinosis |
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Hypouricemia, Hyponatremia, Hypocalcemic tetany, Hypokalemia, Elevated circulating creatinine con... |
ORPHA:411634 |
Autoimmune Lymphoproliferative Syndrome |
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Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... |
OMIM:601859 |
Caroli Disease, Isolated |
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Hepatomegaly, Cholangitis, Esophageal varix, Portal hypertension, Liver abscess |
OMIM:600643 |
Multiple Endocrine Neoplasia, Type Iia |
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Pheochromocytoma, Aganglionic megacolon, Increased circulating cortisol level, Medullary thyroid ... |
OMIM:171400 |
Congenital Rubella Syndrome |
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Hepatomegaly, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Type I diabet... |
ORPHA:290 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... |
OMIM:617241 |
Holoprosencephaly |
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Abnormality of the spleen, Hyponatremia, Microphthalmia, Diabetes insipidus, Median cleft lip and... |
ORPHA:2162 |
Gitelman Syndrome |
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Maternal diabetes, Type II diabetes mellitus, Primary hyperaldosteronism, Hypokalemia, Iron defic... |
ORPHA:358 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Hypocalcemia |
OMIM:618476 |
Immunodeficiency With Hyper-Igm, Type 4 |
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Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Absence of lymph ... |
OMIM:608184 |
Immunodeficiency, Common Variable, 2 |
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Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly |
OMIM:240500 |