Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:600496 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Thyroid carcinoma, Increased T3/T4 ratio, Goiter |
OMIM:274700 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Autoimmunity, Diabetes mellitus, Insulin resistance |
OMIM:612227 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Increased circulating free T3, Goiter |
OMIM:188570 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Lupus Erythematosus Tumidus |
|
Anti-La/SS-B antibody positivity, Deep dermal perivascular inflammatory infiltrate, Autoimmune an... |
ORPHA:90283 |
Thyroid Dyshormonogenesis 2A |
|
Goiter, Thyroid defect in oxidation and organification of iodide, Hypothyroidism |
OMIM:274500 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Autoimmunity, Fasting hypoglycemia, Insulin resistance, Insulin-resistant d... |
ORPHA:411593 |
Thyroid Dyshormonogenesis 5 |
|
Goiter, Hypothyroidism |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Goiter, Hypothyroidism |
OMIM:274800 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seiz... |
OMIM:610021 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Increased glucagon level, Type II diabetes mellitus, Recurrent... |
OMIM:619290 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Autoimmunity, Diabetes mellitus |
OMIM:222100 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Papillary thyroid carcinoma, Euthyroid multinodular goiter |
OMIM:138800 |
Thyroid Cancer, Nonmedullary, 4 |
|
Non-medullary thyroid carcinoma, Goiter |
OMIM:616534 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Masp2 Deficiency |
|
Systemic lupus erythematosus, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Complement Component C1S Deficiency |
|
Hashimoto thyroiditis, Systemic lupus erythematosus, Hepatitis |
OMIM:613783 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:601820 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Nephritis |
OMIM:614420 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... |
ORPHA:79084 |
Congenital Pancreatic Cyst |
|
Pancreatitis, Vomiting, Jaundice |
ORPHA:313906 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Tr... |
ORPHA:99886 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation |
|
Amyloidosis |
OMIM:204850 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Decreased circulating free T4 level, Central hypothyroidism, Thyroid hypoplasia, Inappropriately ... |
OMIM:301035 |
C1Q Deficiency |
|
Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hyperglycemia |
OMIM:608600 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Goiter |
OMIM:274300 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Variant Abeta2M Amyloidosis |
|
Abnormal salivary gland morphology, Cardiac amyloidosis, Renal amyloidosis, Hepatic amyloidosis, ... |
ORPHA:314652 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Ectopic thyroid, Congenital hypothyroidism, Thyroid hypoplasia, Hypothyroidism |
OMIM:225250 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Generalized amyloid deposition, Cholestasis, Splenomegaly |
OMIM:105200 |
Aa Amyloidosis |
|
Hepatomegaly, Adrenal insufficiency, Amyloidosis, Cholestasis, Hypothyroidism, Renal amyloidosis |
ORPHA:85445 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentration, Congenital hy... |
OMIM:275200 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Fasting hypoglycemia, Hypoglycemia, Insulin-resistant diabetes mellitus, Diabetic ketoacidosis, H... |
OMIM:262190 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Multiple Endocrine Neoplasia, Type Iia |
|
Pheochromocytoma, Cutaneous lichen amyloidosis, Increased circulating cortisol level, Medullary t... |
OMIM:171400 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Multinodular goiter, Thyroid nodule, Ovarian thecoma, Goiter |
OMIM:180295 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Hyperglycemia, Diabetic ketoacidosis, Type I diabetes mellitus |
OMIM:618858 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmunity, Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Splenomegaly, Auto... |
ORPHA:444463 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Dysphagia, Pancreatitis |
OMIM:618230 |
Permanent Congenital Hypothyroidism |
|
Goiter, Thyroid dysgenesis, Hypothyroidism, Jaundice |
ORPHA:226292 |
Tropical Calcific Pancreatitis |
|
Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas, Insulin-dependent but k... |
OMIM:608189 |
Myxedema |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Goiter, Hypohidrosis |
OMIM:255900 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:319487 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Steatorrhea, Diabetes mellitus, Ex... |
OMIM:167800 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Mody |
|
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... |
ORPHA:552 |
Familial Thyroid Dyshormonogenesis |
|
Congenital hypothyroidism, Goiter, Increased radioactive iodine uptake, Decreased circulating T4 ... |
ORPHA:95716 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Maternal diabetes, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Igg4-Related Thyroid Disease |
|
Goiter, Retroperitoneal fibrosis, Nodular goiter, Abnormality of the pituitary gland, Euthyroid g... |
ORPHA:64744 |
Acys Amyloidosis |
|
Amyloidosis, Cerebral amyloid angiopathy |
ORPHA:100008 |
Thyroid Dyshormonogenesis 1 |
|
Goiter, Hypothyroidism |
OMIM:274400 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmunity, Recurrent otitis media, Splenomegaly, Diarrhea, Autoimmune hemolytic ... |
OMIM:618495 |
Medullary Thyroid Carcinoma |
|
Nodular goiter, Abnormal liver parenchyma morphology, Medullary thyroid carcinoma, Primary hyperp... |
ORPHA:1332 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis |
OMIM:243300 |
Gallbladder Disease 1 |
|
Cholangitis, Hepatic fibrosis, Cholelithiasis, Pancreatitis, Cholesterol gallstones, Cholecystiti... |
OMIM:600803 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Adrenal insufficiency, Hypoglycemia, Pancreatitis |
OMIM:619386 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Lipodystrophy, Familial Partial, Type 7 |
|
Glucose intolerance, Impaired glucose tolerance, Pancreatitis, Insulin resistance |
OMIM:606721 |
Insulin-Resistance Syndrome Type B |
|
Autoimmunity, Fasting hypoglycemia, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia... |
ORPHA:2298 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Benign Recurrent Intrahepatic Cholestasis |
|
Acholic stools, Hepatocellular carcinoma, Pancreatitis, Cholelithiasis, Cholestatic liver disease... |
ORPHA:65682 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Thyroid hyperplasia, Goiter |
OMIM:609152 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex |
|
Keratoconjunctivitis sicca, Hepatomegaly, Xerostomia, Pancreatitis, Angular cheilitis, Sclerosing... |
OMIM:260480 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Papillary thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:97290 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Hyperglycemia, Type I diabetes mellitus, Glycosuria |
OMIM:618857 |
Hereditary Chronic Pancreatitis |
|
Pancreatic calcification, Recurrent pancreatitis, Diabetes mellitus, Jaundice |
ORPHA:676 |
Thyroid Lymphoma |
|
Hashimoto thyroiditis, Hyperthyroidism, Goiter, Hypothyroidism |
ORPHA:97285 |
Immunodeficiency 31C |
|
Autoimmunity, Eczema, Chronic mucocutaneous candidiasis, Diabetes mellitus, Hypothyroidism, Diarr... |
OMIM:614162 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholangitis, Hepatocellular carcinoma, Biliary tract obstruction, Cholelithiasis, Pancreatitis, N... |
ORPHA:69663 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Acholic stools, Annular pancreas, Hyperglycemia, Absent gallbladder, Bilia... |
OMIM:615710 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Graves Disease, Susceptibility To, 1 |
|
Goiter, Hyperhidrosis, Graves disease |
OMIM:275000 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperglycemia, Cirrhosis, Hepatic steatos... |
OMIM:604367 |
Pendred Syndrome |
|
Thyroid carcinoma, Hyperparathyroidism, Goiter, Hypothyroidism |
ORPHA:705 |
Ascher Syndrome |
|
Goiter, Hypothyroidism |
ORPHA:1253 |
Sjogren Syndrome |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Xerostomia, Rheumatoid ar... |
OMIM:270150 |
Familial Gestational Hyperthyroidism |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:99819 |
Donohue Syndrome |
|
Fasting hypoglycemia, Hepatic fibrosis, Hyperglycemia, Pancreatic islet-cell hyperplasia, Cholest... |
OMIM:246200 |
Genetic Transient Congenital Hypothyroidism |
|
Goiter, Thyroid hypoplasia, Decreased circulating T4 level, Elevated circulating thyroid-stimulat... |
ORPHA:226316 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Goiter |
OMIM:613239 |
Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Hypothyroidism |
OMIM:617577 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Thyroid hyperplasia, Goiter, Hyperthyroidism, Activating thyroid-stimulating hormone receptor def... |
ORPHA:424 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Hepatomegaly, Pancreatitis, Hepatic steatosis |
OMIM:618805 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Pancreatitis, Vomiting |
OMIM:248600 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hyperglycemia, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Decreased circulating free T3, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulatin... |
ORPHA:99832 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Glycosuria, Ketotic hypoglycemia |
ORPHA:2089 |
Microscopic Polyangiitis |
|
Sinusitis, Autoimmunity, Pericarditis, Episcleritis, Peritonitis, Arthritis, Pancreatitis, Increa... |
ORPHA:727 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Congenital hypothyroidism, Goiter, Decreased circulating T4 level, Elevated circulating thyroid-s... |
ORPHA:226313 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Amyloidosis |
OMIM:105210 |
Rat-Bite Fever |
|
Myocarditis, Pericarditis, Pustule, Vomiting, Endocarditis, Lymphadenitis, Oligoarthritis, Arthri... |
ORPHA:31205 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Ovarian neoplasm, Goiter, Neoplasm of the adrenal cortex, Pitu... |
ORPHA:163634 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Pancreatitis, Hep... |
OMIM:603471 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Autoimmunity, Diabetes mellitus |
ORPHA:703 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Autoimmunity, Colitis, Minimal change glomerulonephritis |
OMIM:617006 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Rheumatoid factor positive, Splenomegaly, Crohn's disease, Hepatosplenomeg... |
OMIM:618935 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, AA amyloidosis, Hepatic amyloidosis |
OMIM:142680 |
Cidec-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hepatomegaly, Pancreatitis, Hepatic steatosis |
ORPHA:435651 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Vomiting, Peritonitis, Hyperglycemia, Abnormal glucose homeostasis, Diarrhea |
ORPHA:391673 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Autoimmunity, Insulin resistance, Insulin-resistant diabetes mellitus, Panniculitis... |
ORPHA:79086 |
Complement Component 2 Deficiency |
|
Systemic lupus erythematosus |
OMIM:217000 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Pancrea... |
ORPHA:79083 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hashimoto thyroiditis, Goiter, Hypothyroidism |
ORPHA:83601 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Congenital Hypothyroidism |
|
Anterior hypopituitarism, Goiter, Hypogonadism, Abnormality of the thyroid gland, Hypothyroidism,... |
ORPHA:442 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Pancreatitis, Pneumonia |
ORPHA:70578 |
Pulmonary Nodular Lymphoid Hyperplasia, Familial |
|
Systemic lupus erythematosus, Rheumatoid arthritis, Antinuclear antibody positivity |
OMIM:178610 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Primary Lipodystrophy |
|
Type II diabetes mellitus, Insulin resistance, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic ste... |
ORPHA:90970 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hepatomegaly, Cholangiocarcinoma, Hepatocellular carcinoma, Hyperglycemia, Arthritis, Splenomegal... |
ORPHA:465508 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased serum testosterone level, Goiter, Primary hypercortisolism, Increased c... |
ORPHA:562 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Pericarditis, Nephritis, Systemic lupus erythematosus, Arthritis, Malar rash, An... |
OMIM:152700 |
Propionic Acidemia |
|
Hepatomegaly, Eczema, Hypoglycemia, Vomiting, Pancreatitis, Constipation |
OMIM:606054 |
Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Renal amyloidosis, Renal interstitial amyloid deposits, Diabetes mellitus, C... |
ORPHA:439232 |
Linear Iga Dermatosis |
|
Autoimmunity, Inflammation of the large intestine |
ORPHA:46488 |
Subcorneal Pustular Dermatosis |
|
Autoimmunity, Pustule, Systemic lupus erythematosus, Hyperthyroidism, Rheumatoid arthritis, Hypot... |
ORPHA:48377 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis |
ORPHA:289916 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmunity, Eczema, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibod... |
OMIM:615952 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
ORPHA:79312 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Hypoglycemia, Pancreatic hypoplasia, Diabetes mellitus |
OMIM:609069 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism |
OMIM:145001 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Polycystic ovaries, Neoplasm of the thyroid gland, Abnormal testis morphology, Hyperthyro... |
ORPHA:457059 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitus |
ORPHA:2348 |
Familial Mediterranean Fever |
|
Hepatomegaly, Peritonitis, Splenomegaly, Amyloidosis, Orchitis, Renal amyloidosis |
OMIM:249100 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Increased circulating T4 level, Goiter, Puberty and gonadal disorders, Splenomegaly... |
ORPHA:525731 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Insulinoma, Fasting hyperinsulinemia, Pituitary corticotrop... |
ORPHA:276152 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Impaired sensitivity to thyroid stimulating hormone, Congenital hypothyroidism, Thyroid hypoplasi... |
ORPHA:90673 |
Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Nodular goiter, Goiter |
ORPHA:142 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Fasting hypoglycemia, Hepatocellular carcinoma, Increased hepatic glycogen content,... |
ORPHA:2088 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Autoimmunity, Inflammatory abnormality of the skin, Anti-thyroid peroxidase antibody p... |
ORPHA:277 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Goiter, Thyroid hypoplasia, Pituitary hypothyroidism, Decreased circulating T4 le... |
ORPHA:90674 |
Immunodeficiency 22 |
|
Diarrhea, Autoimmunity, Panniculitis |
OMIM:615758 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Spl... |
ORPHA:231154 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Dysphagia, Type II diabetes mellitus, Pancreatitis, Iridocyclitis, Type I diabetes mellitus, Hypo... |
ORPHA:412057 |
Cowden Syndrome 5 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... |
OMIM:615108 |
Pemphigus Erythematosus |
|
Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Mala... |
ORPHA:79480 |
Cach Syndrome |
|
Dysphagia, Vomiting, Pancreatitis, Optic neuritis, Hepatosplenomegaly |
ORPHA:135 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Tubulointerstitial nephritis, Pancreatitis, Vomiting |
OMIM:251000 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Systemic lupus erythematosus, Arthritis, Malar rash, Antinuclear antibody positivity |
OMIM:609939 |
Q Fever |
|
Hepatomegaly, Hepatitis, Splenomegaly, Abnormality of the liver, Hepatosplenomegaly, Amyloidosis,... |
ORPHA:781 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis |
ORPHA:27 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Vomiting, Nausea, Hyperglycemia, Hypothyroidism, Hypopituitarism |
ORPHA:90065 |
Secondary Non-Traumatic Avascular Necrosis |
|
Autoimmunity, Systemic lupus erythematosus, Rheumatoid arthritis |
ORPHA:399180 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hyperglycemia, Hepatic steatosis, Acute pancre... |
OMIM:151660 |
Cowden Syndrome 6 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Hypothyroidism, Hydrocele te... |
OMIM:615109 |
Legionnaires Disease |
|
Myocarditis, Pericarditis, Infectious encephalitis, Endocarditis, Hepatitis, Pancreatitis, Spleno... |
ORPHA:549 |
Microsporidiosis |
|
Sinusitis, Cholangitis, Myocarditis, Hepatitis, Infectious encephalitis, Vomiting, Lymphadenitis,... |
ORPHA:2552 |
Short Syndrome |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperglycemia |
OMIM:269880 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Amyloidosis, Splenomegaly |
ORPHA:98849 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Ectopic thyroid, Congenital hypothyroidism, Goiter, Thyroid hypoplasia, Elevated circulating thyr... |
OMIM:218700 |
Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Papillary thyroid carcinoma, Goiter, Ductal carcinoma in situ |
OMIM:616858 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Ebola Hemorrhagic Fever |
|
Dysphagia, Vomiting, Nausea, Hepatitis, Melena, Gastrointestinal hemorrhage, Acute pancreatitis, ... |
ORPHA:319218 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Pancreatitis, Splenomegaly |
OMIM:207750 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Congenital hypothyroidism, Thyroid hemiagenesis, Elevated circulating thyroid... |
ORPHA:209905 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Autoimmunity, Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatic fibrosis, He... |
ORPHA:171 |
Hyperlipoproteinemia, Type I |
|
Vomiting, Nausea, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Jaundice |
OMIM:238600 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Anti-thyroid peroxidase antibody positivity, Cholangitis, Autoimmunity, Anti-glutamic acid decarb... |
ORPHA:228426 |
Systemic Capillary Leak Syndrome |
|
Myocarditis, Diarrhea, Pericarditis, Pancreatitis |
ORPHA:188 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Vomiting, Hyperglycemia, Diarrhea |
ORPHA:134 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Glucose intolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:608612 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Pheochromocytoma, Cutaneous lichen amyloidosis, N... |
ORPHA:653 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Autoimmunity, Pericarditis, Anterior uveitis, Splenomegaly, Juvenile rheumatoid art... |
ORPHA:85414 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Cholestatic liver disease, Steatorrhea, Cholestasis, Portal hypertension, Postprandial... |
ORPHA:440713 |
Carney Complex, Type 1 |
|
Thyroid follicular hyperplasia, Thyroid carcinoma, Pituitary adenoma, Elevated circulating growth... |
OMIM:160980 |
Cowden Syndrome 1 |
|
Goiter, Ovarian cyst, Thyroid adenoma, Hyperthyroidism, Thyroiditis, Ovarian carcinoma, Hypothyro... |
OMIM:158350 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Pancreatitis, Intermittent diarrhea |
OMIM:232200 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis, Hypohidrosis |
OMIM:301220 |
Mirizzi Syndrome |
|
Gallbladder perforation, Vomiting, Nausea, Cholelithiasis, Pancreatitis, Cholesterol gallstones, ... |
ORPHA:521219 |
Multiple Endocrine Neoplasia Type 1 |
|
Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinoma, Intestinal carcinoid... |
ORPHA:652 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Perianal abscess, Acute pancreatit... |
ORPHA:444490 |
Tsh-Secreting Pituitary Adenoma |
|
Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-stimulating hormone conc... |
ORPHA:91347 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Seckel Syndrome 10 |
|
Elevated circulating follicle stimulating hormone level, Insulin resistance, Glucose intolerance,... |
OMIM:617253 |
Thyroid Ectopia |
|
Ectopic thyroid, Abnormality of the thyroid gland, Hypothyroidism, Jaundice |
ORPHA:95712 |
Zygomycosis |
|
Sinusitis, Myocarditis, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointestinal hemorrhage, Dia... |
ORPHA:73263 |
Pauci-Immune Glomerulonephritis |
|
Tubulointerstitial nephritis, Pancreatitis, Cytoplasmic antineutrophil antibody positivity, Cresc... |
ORPHA:93126 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Gout, Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Hypothyroidism |
ORPHA:412 |
Thyroid Hypoplasia |
|
Thyroid hypoplasia, Hypothyroidism, Jaundice |
ORPHA:95720 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Pancreatitis |
OMIM:232220 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Neonatal insulin-dependent diabetes mellitus, R... |
ORPHA:99885 |
Salivary Duct Calculi |
|
Parotitis |
OMIM:181010 |
Caroli Syndrome |
|
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Cholangiocarcinoma, Congeni... |
ORPHA:480520 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmunity, Systemic lupus erythematosus, Skin rash, Autoimmune hemolytic anemia |
ORPHA:90036 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Abnormality of the intrahepatic bile duct, Inflammation of the large intestine, Interface hepatit... |
ORPHA:562639 |
Schimke Immuno-Osseous Dysplasia |
|
Pancreatitis, Autoimmunity, Abnormality of thyroid physiology, Minimal change glomerulonephritis |
ORPHA:1830 |
Citrullinemia Type Ii |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Vomiting, Pancreatitis, Hepatic steatos... |
ORPHA:247585 |
Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Pericarditis, Tubulointerstitial nephritis, Urinary bladder... |
ORPHA:449395 |
Familial Mediterranean Fever |
|
Pericarditis, Peritonitis, Arthritis, Pancreatitis, Splenomegaly, Intestinal obstruction, Skin ra... |
ORPHA:342 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Chronic oral candidiasis, Otitis media, Juvenile rheumatoid arthritis, Skin rash, H... |
ORPHA:275 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Dend Syndrome |
|
Hyperglycemia, Vomiting |
ORPHA:79134 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Dysphagia, Hypoglycemia, Vomiting, Acute pancreatitis, Hepatic periportal necrosis |
ORPHA:26791 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Inflammation of the large intestine, Hypoglycemia, Hepatocellular carcinoma, Increa... |
ORPHA:79259 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Anti-thyroid peroxidase antibody positivity, Autoimmunity, Eczema, Tubulointerstitial nephritis, ... |
ORPHA:37042 |
Cystic Fibrosis |
|
Hepatomegaly, Bronchiectasis, Chronic sinusitis, Pancreatitis, Cirrhosis, Hepatosplenomegaly, Rec... |
OMIM:219700 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Impaired glucose tolerance, Hyperinsulinemia, Hyperglycemia |
OMIM:248370 |
Rabson-Mendenhall Syndrome |
|
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Diabetic ketoacido... |
ORPHA:769 |
Autoimmune Polyendocrinopathy Type 3 |
|
Keratoconjunctivitis sicca, Autoimmune hypoparathyroidism, Autoimmunity, Tubulointerstitial nephr... |
ORPHA:227982 |
Familial Adenomatous Polyposis |
|
Neoplasm of the gallbladder, Neoplasm of the adrenal gland, Cholangiocarcinoma, Goiter, Biliary t... |
ORPHA:733 |
Pallister-Hall Syndrome |
|
Decreased testicular size, Adrenal hypoplasia, Panhypopituitarism, Cryptorchidism, Decreased resp... |
OMIM:146510 |
Visceral Myopathy 1 |
|
Dysphagia, Vomiting, Gastroparesis, Pancreatitis, Diarrhea, Constipation |
OMIM:155310 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Dysphagia, Lymphadenitis, Nephritis, Pancreatitis, Parotitis |
ORPHA:449427 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Insulin resistance, Pancreatitis, Splenomegaly, Hepatic steatosis, Diabetes mellitus |
ORPHA:280365 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Lipid accumulation in hepatocytes, Recurrent hypoglycemia, Acute pancreatitis, Nonk... |
ORPHA:20 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ectopic thyroid, Thyroid hypoplasia, Hypothyroidism, Thyroid agenesis, Cryptorchidism, Thyroid dy... |
ORPHA:3047 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Oligoarthritis, Knee osteoarthritis, Uveitis, Rheumatoid arthritis, Antinuclear ant... |
ORPHA:85410 |
Autoimmune Polyendocrinopathy Type 4 |
|
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Atrophic gastritis, Aplas... |
ORPHA:227990 |
Alstrom Syndrome |
|
Hepatomegaly, Chronic active hepatitis, Diabetes insipidus, Insulin-resistant diabetes mellitus, ... |
OMIM:203800 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Pericarditis, Hepatic fibrosis, Hepatic steatosis, Hepatosplenomegaly, Acute pancre... |
OMIM:619487 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Autoimmunity, Pericarditis, Prostatitis, Chronic otitis media, Pancreatitis, Increased... |
ORPHA:900 |
Scorpion Envenomation |
|
Myocarditis, Vomiting, Hyperglycemia, Glycosuria, Acute pancreatitis, Hyperhidrosis, Diarrhea |
ORPHA:466677 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Inappropriate antidiuretic hormone secretion, Thyroid hypoplasia, Hypogonadotropic hypogonadism, ... |
ORPHA:226307 |
Behçet Disease |
|
Keratoconjunctivitis sicca, Infectious encephalitis, Pericarditis, Endocarditis, Retrobulbar opti... |
ORPHA:117 |
Immunodeficiency 36 |
|
Chronic diarrhea, Autoimmunity, Splenomegaly, Bronchiectasis |
OMIM:616005 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmunity, Dysphagia, Splenomegaly, Autoimmune thrombocytopenia, Rheumatoid arth... |
ORPHA:100026 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic single thyroid nodule, Constipation, Thyrotoxicosis with toxic multinod... |
ORPHA:79102 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Prostatitis, Retroperitoneal fibrosis, Pancreatitis, Keratitis, Thyroidit... |
ORPHA:449563 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Psoriasiform dermatitis, Autoimmunity, Interface hepatitis, Hematochezia, Autoimmune hemolytic an... |
OMIM:243150 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hepatomegaly, Hypoglycemia, Vomiting |
ORPHA:3008 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Bloody diarrhea, Pneumonia, Vomiting, Nausea, Acute colitis, Pancreatitis, Septic ar... |
ORPHA:544482 |
Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Hepatomegaly, Pancreatitis, Splenomegaly, Diabetes mellitus |
ORPHA:565612 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Atopic dermatitis, Cholangitis, Psoriasiform dermatitis, Allergic rhinitis, Autoimmunity, Pneumon... |
ORPHA:183675 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Pancreatitis, Jaundice |
ORPHA:370348 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Melas |
|
Hypoparathyroidism, Type II diabetes mellitus, Vomiting, Recurrent pancreatitis, Diabetes mellitu... |
ORPHA:550 |
Multiple Endocrine Neoplasia, Type Iib |
|
Nodular goiter, Medullary thyroid carcinoma, Elevated calcitonin, Parathyroid hyperplasia, Pheoch... |
OMIM:162300 |
Coccidioidomycosis |
|
Abnormality of the spleen, Pericarditis, Folliculitis, Pneumonia, Peritonitis, Panniculitis, Arth... |
ORPHA:228123 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmunity, Systemic lupus erythematosus, Splenomegaly, Autoimmune hemolytic anemia, Jaundice |
ORPHA:90033 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Dysphagia, Erythroderma, Portal fibros... |
ORPHA:3260 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Vomiting, Peritonitis, Acute colitis, Pancreatitis, Diarrhea |
ORPHA:90038 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Hypoglycemia, Hepatocellular carcinoma, Gout, Hepatoblastoma, Chronic pancreatitis |
OMIM:232240 |
Familial Hypocalciuric Hypercalcemia |
|
Autoimmunity, Pancreatitis |
ORPHA:405 |
Familial Multinodular Goiter |
|
Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neoplasm, Multinodular goiter |
ORPHA:276399 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Goiter, Abnormality of the liver, Hyperthyroidism, Diabetes mellitus, Hypothyroidism |
ORPHA:254892 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Pericarditis, Hypoglycemia, Vomiting, Nausea, Arthritis, Pancreatitis, Uveitis, ... |
ORPHA:99826 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Infectious encephalitis, Hyperglycemia, Gonadotropin deficiency, Hypohidr... |
ORPHA:293987 |
Leprechaunism |
|
Hepatomegaly, Central hypothyroidism, Fasting hypoglycemia, Insulin resistance, Recurrent infanti... |
ORPHA:508 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Tubulointerstitial nephritis, Vomiting, Membranous nephropathy, Decreased response ... |
ORPHA:470 |
Stevens-Johnson Syndrome |
|
Dysphagia, Pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Conjunctivitis |
ORPHA:36426 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Polycystic ovaries, Nodular goiter, Type I diabetes mellitus |
ORPHA:371428 |
Pten Hamartoma Tumor Syndrome |
|
Multinodular goiter, Thyroid carcinoma, Thyroid adenoma |
ORPHA:306498 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Vomiting, Nausea, Pancreatitis, Splenomegaly, Diarrhea |
OMIM:222700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... |
OMIM:608594 |
Nephronophthisis-Like Nephropathy 1 |
|
Chronic pancreatitis, Pancreatic cysts |
OMIM:613159 |
Crimean-Congo Hemorrhagic Fever |
|
Myocarditis, Conjunctivitis, Adrenal insufficiency, Hepatomegaly, Hematemesis, Epididymitis, Mele... |
ORPHA:99827 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Pancreatic hypoplasia, Hyperglycemia, Glycosuria, Absent gallbladder, Biliary atresia, Diabetes m... |
OMIM:600001 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Splenomegaly, Cirrhosis, Hepatic st... |
OMIM:269700 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Constipation, Hyperglycemia, Hypothyroidism, Decreased response to growth hormone stimulation tes... |
ORPHA:444077 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Dysphagia, Pancreatitis, Conjunctivitis |
ORPHA:537 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Dysphagia, Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism, Constipation |
ORPHA:99880 |
Parathyroid Carcinoma |
|
Dysphagia, Pancreatic adenocarcinoma, Pancreatitis, Primary hyperparathyroidism, Constipation |
ORPHA:143 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Cowden Syndrome |
|
Goiter, Adenoma sebaceum, Neoplasm of the thyroid gland, Follicular thyroid carcinoma, Abnormalit... |
ORPHA:201 |
Atypical Werner Syndrome |
|
Type II diabetes mellitus, Insulin-resistant diabetes mellitus, Hyperglycemia, Glycosuria, Fastin... |
ORPHA:79474 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hepatic steatosis, Chronic pancreatitis, Diabetes mellitus, Cholecystitis |
ORPHA:98908 |
Carney Complex |
|
Thyroid carcinoma, Sertoli cell neoplasm, Increased circulating cortisol level, Papillary thyroid... |
ORPHA:1359 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Thyroid hypoplasia, Congenital hypothyroidism |
ORPHA:521445 |
Stüve-Wiedemann Syndrome |
|
Ectopic thyroid, Hypohidrosis, Hypothyroidism, Hyperhidrosis |
ORPHA:3206 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Xerostomia, Retroperitoneal fibrosis, Nodular goiter, Abnorma... |
ORPHA:79078 |
Phace Syndrome |
|
Ectopic thyroid, Hypothyroidism |
ORPHA:42775 |
Yellow Fever |
|
Vomiting, Nausea, Hematemesis, Acute pancreatitis, Skin rash, Pancreatic hyperplasia, Diarrhea, J... |
ORPHA:99829 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
Treacher-Collins Syndrome |
|
Thyroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Abnormality of the adrenal glands |
ORPHA:861 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Thyroid hypoplasia, Adrenal hypoplasia, Abnormality of the hypothalamus-pituitary axis, Cryptorch... |
ORPHA:2166 |
Pallister-Hall Syndrome |
|
Abnormal prolactin level, Central adrenal insufficiency, Adrenocorticotropic hormone deficiency, ... |
ORPHA:672 |
Alström Syndrome |
|
Hepatitis, Splenomegaly, Hepatosplenomegaly, Primary hypothyroidism, Portal hypertension, Type II... |
ORPHA:64 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Thyroid hypoplasia, Hepatic steatosis, Hepatosplenomegaly, Small pituitary gland, Cholestasis, Cr... |
OMIM:619503 |
Keratolytic Winter Erythema |
|
Pustule, Hyperhidrosis |
ORPHA:50943 |
Keratolytic Winter Erythema |
|
Palmoplantar hyperhidrosis |
OMIM:148370 |