Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Thyroid Dyshormonogenesis 3 |
|
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma |
OMIM:274700 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... |
OMIM:274500 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Autoimmunity, Insulin resistance |
OMIM:612227 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... |
OMIM:188570 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
OMIM:188550 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Insulin resistance, Autoimmunity, Hyperinsulinemic hypoglycemia, Autoimm... |
ORPHA:411593 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Anti-glutamic acid decarb... |
OMIM:610582 |
Amyloidosis, Cutaneous Bullous |
|
Amyloidosis |
OMIM:204900 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Mahvash Disease |
|
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... |
OMIM:619290 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Amyloidosis, Primary Localized Cutaneous, 2 |
|
Cutaneous amyloidosis |
OMIM:613955 |
Myeloma, Multiple |
|
Amyloidosis |
OMIM:254500 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Maternal diabetes, A... |
ORPHA:99886 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Pancreatitis |
OMIM:246650 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Autoimmunity |
OMIM:222100 |
Systemic Lupus Erythematosus 16 |
|
Perinuclear antineutrophil antibody positivity, Systemic lupus erythematosus, Anti-dsDNA antibody... |
OMIM:614420 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:609812 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:275200 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Glucose intolerance |
OMIM:307500 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
Masp2 Deficiency |
|
Recurrent pneumonia, Systemic lupus erythematosus, Ulcerative colitis |
OMIM:613791 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancrea... |
ORPHA:79084 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis, Systemic lupus erythematosus |
OMIM:613783 |
Congenital Pancreatic Cyst |
|
Jaundice, Vomiting, Pancreatitis |
ORPHA:313906 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Amyloidosis |
OMIM:204850 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Variant Abeta2M Amyloidosis |
|
Cutaneous amyloidosis, Amyloidosis of peripheral nerves, Cardiac amyloidosis, Abnormal salivary g... |
ORPHA:314652 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Arthritis, Autoimmunity, Nephritis |
OMIM:216950 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Amyloidosis |
OMIM:105250 |
C1Q Deficiency 1 |
|
Systemic lupus erythematosus, Autoimmunity, Membranoproliferative glomerulonephritis |
OMIM:613652 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hepatomegaly |
OMIM:608600 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Generalized amyloid deposition |
OMIM:105120 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Decreased circulating free T4 concentration, Elevated circulating thyroid-stimula... |
OMIM:225250 |
Thyroid Cancer, Nonmedullary, 4 |
|
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm |
OMIM:616534 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Vomiting, Pancreatitis, Diarrhea |
OMIM:620137 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Generalized amyloid deposition, Cholestasis, Hepatomegaly |
OMIM:105200 |
Aa Amyloidosis |
|
Hypothyroidism, Adrenal insufficiency, Amyloidosis, Cholestasis, Hepatomegaly, Renal amyloidosis |
ORPHA:85445 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... |
OMIM:274300 |
Multiple Endocrine Neoplasia, Type Iia |
|
Parathyroid adenoma, Cutaneous lichen amyloidosis, Increased circulating cortisol level, Pheochro... |
OMIM:171400 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... |
OMIM:613239 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia |
OMIM:618858 |
Cerebral Amyloid Angiopathy, Cst3-Related |
|
Generalized amyloid deposition |
OMIM:105150 |
Graves Disease, Susceptibility To, 1 |
|
Hyperhidrosis, Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves... |
OMIM:275000 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter |
OMIM:180295 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist... |
OMIM:262190 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Type I diabetes mellitus |
OMIM:618856 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Permanent Congenital Hypothyroidism |
|
Hypothyroidism, Jaundice, Thyroid dysgenesis, Goiter |
ORPHA:226292 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Hyperglycemia, Diabetes mellitus, Type I diabetes mellitus |
OMIM:606176 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter |
ORPHA:319487 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Autoimmunity, Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolyti... |
ORPHA:444463 |
Chylous Ascites |
|
Pancreatitis |
ORPHA:1160 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabe... |
OMIM:608189 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Steatorrhea, Diabetes mellitus, Exocrine pancrea... |
OMIM:167800 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Acys Amyloidosis |
|
Cerebral amyloid angiopathy, Amyloidosis |
ORPHA:100008 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Familial Thyroid Dyshormonogenesis |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:95716 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... |
ORPHA:95715 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Intermittent jaundice, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Hepatomegaly |
OMIM:243300 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Vomiting, J... |
ORPHA:103918 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Nonketotic hypoglycemia, Autoimmunity, Neonatal hypoglycemia, Increased... |
ORPHA:293964 |
Medullary Thyroid Carcinoma |
|
Hyperhidrosis, Nodular goiter, Pheochromocytoma, Elevated calcitonin, Medullary thyroid carcinoma... |
ORPHA:1332 |
Igg4-Related Thyroid Disease |
|
Hypothyroidism, Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Sclerosing cholangitis, Th... |
ORPHA:64744 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Adrenal insufficiency, Hypoglycemia, Pancreatitis, Hepatic steatosis |
OMIM:619386 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Insulin resistance, He... |
OMIM:604367 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Portal inflammation, Cholangitis, Cholecystit... |
OMIM:600803 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cirrhosis, Chronic diarrhea, Jaundice, Hepatocellular carcinoma, Acholic stools, ... |
ORPHA:65682 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Goiter |
ORPHA:97290 |
Eosinophilopenia |
|
Autoimmunity, Allergic rhinitis |
OMIM:131430 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Hyperinsulinemic hypoglycemia, Pneumonia, Antinuclear antibody positivity, Fas... |
ORPHA:2298 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Thyroid Lymphoma |
|
Hypothyroidism, Hashimoto thyroiditis, Hyperthyroidism, Goiter |
ORPHA:97285 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Pancreatitis, Dysphagia |
OMIM:618230 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Amyloidosis, Cutaneous macular amyloidosis |
OMIM:615225 |
Hereditary Chronic Pancreatitis |
|
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus |
ORPHA:676 |
Glutaric Aciduria Iii |
|
Hyperthyroidism, Goiter |
OMIM:231690 |
Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
Pendred Syndrome |
|
Goiter, Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma |
ORPHA:705 |
Hyperthyroidism, Nonautoimmune |
|
Hyperthyroidism, Increased circulating T4 concentration, Thyroid hyperplasia, Increased circulati... |
OMIM:609152 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Ascher Syndrome |
|
Hypothyroidism, Goiter |
ORPHA:1253 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... |
ORPHA:90673 |
Genetic Transient Congenital Hypothyroidism |
|
Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Abno... |
ORPHA:226316 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Diarrhea, Acholic stools, Diabetes me... |
OMIM:615710 |
Maple Syrup Urine Disease |
|
Hypoglycemia, Vomiting, Pancreatitis |
OMIM:248600 |
Ciliary Dyskinesia, Primary, 37 |
|
Hypothyroidism, Goiter |
OMIM:617577 |
Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Postprandial hyperglycemia, Cholestasis, Pancreatic islet-cel... |
OMIM:246200 |
Sjogren Syndrome |
|
Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca, Autoimmunity, Xer... |
OMIM:270150 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Goiter |
OMIM:188580 |
Idiopathic Trachyonychia |
|
Amyloidosis |
ORPHA:79153 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea |
OMIM:618805 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Retrobulbar optic neuritis |
OMIM:619737 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Familial Gestational Hyperthyroidism |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:99819 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... |
ORPHA:226313 |
Microscopic Polyangiitis |
|
Diarrhea, Skin rash, Arthritis, Autoimmunity, Uveitis, Pericarditis, Sinusitis, Gastrointestinal ... |
ORPHA:727 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Postprandial hyperglycemia, Ketotic hypoglycemia |
ORPHA:2089 |
Familial Renal Glucosuria |
|
Glycosuria, Abnormal oral glucose tolerance, Insulin resistance, Hyperglycemia |
ORPHA:69076 |
Maffucci Syndrome |
|
Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Pituitary... |
ORPHA:163634 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Amyloidosis |
OMIM:105210 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Activating thyroid-stimulating hormone receptor defect, Hyperthyroidism, Thyrotoxicosis with diff... |
ORPHA:424 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Goiter, Insulin-resistant diabetes mellitus |
OMIM:210740 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hepatic fibrosis, Ballooning hepatocyte degeneration, Hepatocellular carcinoma, Portal inflammati... |
OMIM:603471 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatic amyloidosis, AA amyloidosis, Hepatomegaly |
OMIM:142680 |
Thyrocerebroretinal Syndrome |
|
Goiter |
OMIM:274240 |
Rat-Bite Fever |
|
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Diarrhea,... |
ORPHA:31205 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Lymphadenitis, Crohn's disease, Perianal abscess, Eczema, Ulcerative colitis, Hepatosplenomegaly,... |
OMIM:618935 |
Primary Sclerosing Cholangitis |
|
Splenomegaly, Hepatic fibrosis, Cirrhosis, Hepatitis, Thyroiditis, Amyloidosis, Hepatocellular ca... |
ORPHA:171 |
Aapoaiv Amyloidosis |
|
Renal interstitial amyloid deposits, Cutaneous amyloidosis, Cardiac amyloidosis, Diabetes mellitu... |
ORPHA:439232 |
Bullous Pemphigoid |
|
Diabetes mellitus, Psoriasiform dermatitis, Autoimmunity, Eczema |
ORPHA:703 |
Propionic Acidemia |
|
Vomiting, Eczema, Hypoglycemia, Constipation, Hepatomegaly, Pancreatitis |
OMIM:606054 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Splenomegaly, Maternal diabetes, Insulin resistance, Hepatic steatosis, Diabetes melli... |
ORPHA:79083 |
Dend Syndrome |
|
Hyperglycemia, Vomiting, Autoimmune antibody positivity |
ORPHA:79134 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Insulin resistance, Autoimmunity, Hepatic steatosis, Acute pancreati... |
ORPHA:79086 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Vomiting, Hypoglycemia, Hepatomegaly, Pancreatitis |
OMIM:251000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Minimal change glomerulonephritis, Autoimmunity, Colitis |
OMIM:617006 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter |
ORPHA:3327 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Vomiting, Abnormal glucose homeostasis, Diarrhea, Hyperglycemia, Peritonitis |
ORPHA:391673 |
Primary Lipodystrophy |
|
Cirrhosis, Splenomegaly, Type II diabetes mellitus, Insulin resistance, Hepatic steatosis, Pancre... |
ORPHA:90970 |
Adult Acute Respiratory Distress Syndrome |
|
Diabetic ketoacidosis, Pneumonia, Pancreatitis |
ORPHA:70578 |
Congenital Hypothyroidism |
|
Hypothyroidism, Hypogonadism, Anterior hypopituitarism, Abnormality of the thyroid gland, Prolong... |
ORPHA:442 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Insulin-resistant diabetes mellitus, Pancreatitis, Hepatomegaly |
ORPHA:435651 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hyperglycemia, Increased circulating cortisol level |
OMIM:615954 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly |
ORPHA:289916 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia |
OMIM:175700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Splenomegaly, Hepatomegaly |
ORPHA:79312 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Neoplasm of the thyroid gland, P... |
ORPHA:457059 |
Mccune-Albright Syndrome |
|
Macroorchidism, Increased circulating prolactin concentration, Precocious puberty, Increased seru... |
ORPHA:562 |
Pediatric-Onset Graves Disease |
|
Hyperhidrosis, Increased circulating T4 concentration, Jaundice, Thyrotoxicosis with diffuse goit... |
ORPHA:525731 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancreatitis |
ORPHA:2348 |
Cach Syndrome |
|
Vomiting, Hepatosplenomegaly, Optic neuritis, Dysphagia, Pancreatitis |
ORPHA:135 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Arthritis, Cholangiocarcinoma, Hepatocellular carcinoma, Diabetes mell... |
ORPHA:465508 |
Familial Mediterranean Fever |
|
Peritonitis, Amyloidosis, Hepatomegaly, Orchitis, Renal amyloidosis, Splenomegaly |
OMIM:249100 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Goiter |
ORPHA:142 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Hypothyroidism, Achalasia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil an... |
OMIM:615952 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Recurrent pancreatitis, Hyperparathyroidism |
OMIM:145001 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... |
OMIM:218700 |
Cowden Syndrome 5 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615108 |
Subcorneal Pustular Dermatosis |
|
Hypothyroidism, Hyperthyroidism, Rheumatoid arthritis, Autoimmunity, Pustule, Systemic lupus eryt... |
ORPHA:48377 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Hypothyroidism, Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Dysphagia, Pa... |
ORPHA:412057 |
Fanconi-Bickel Syndrome |
|
Abnormal hepatic glycogen storage, Impaired glucose tolerance, Glycosuria, Hepatocellular carcino... |
ORPHA:2088 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Hypoglycemia, Vomiting |
OMIM:615453 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypothyroidism, Vomiting, Hypopituitarism, Nausea, Hyperglycemia |
ORPHA:90065 |
Bardet-Biedl Syndrome 9 |
|
Hyperglycemia |
OMIM:615986 |
Cowden Syndrome 6 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Go... |
OMIM:615109 |
Pemphigus Erythematosus |
|
Malar rash, Anti-acetylcholine receptor antibody positivity, Autoimmunity, Systemic lupus erythem... |
ORPHA:79480 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Acute pancreatitis, Hepatomegaly,... |
OMIM:151660 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Aut... |
ORPHA:231154 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... |
ORPHA:90674 |
Q Fever |
|
Abnormality of the liver, Hepatitis, Amyloidosis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly... |
ORPHA:781 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly |
ORPHA:27 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Splenomegaly, Hepatomegaly, Colitis, Pancreatitis |
OMIM:615947 |
Cowden Syndrome 7 |
|
Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter |
OMIM:616858 |
Legionnaires Disease |
|
Endocarditis, Splenomegaly, Diarrhea, Hepatitis, Jaundice, Pericarditis, Infectious encephalitis,... |
ORPHA:549 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Amyloidosis, Splenomegaly, Hepatomegaly |
ORPHA:98849 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Pancreatic hypoplasia, Reduced pancreatic beta cells, Neonatal insulin-dependent diabetes mellitu... |
ORPHA:99885 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Hepatocellular carcinoma, Gout, Hypoglycemia, Hepatomegaly, Fasting hypogl... |
OMIM:232200 |
Microsporidiosis |
|
Prostatitis, Biliary tract abnormality, Myositis, Chronic diarrhea, Pneumonia, Lymphadenitis, End... |
ORPHA:2552 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Insulin resistance, Hepatic steatosis, Diabetes mellitus,... |
OMIM:617253 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Multiple Endocrine Neoplasia Type 2 |
|
Hyperhidrosis, Cutaneous lichen amyloidosis, Parathyroid adenoma, Parathyroid hyperplasia, Neopla... |
ORPHA:653 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutaneous amyloidosis, Hypohidrosis |
OMIM:301220 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:83601 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Vomiting, Jaundice, Hepatosplenomegaly, Nausea, Pancreatitis |
OMIM:238600 |
Isolated Sedoheptulokinase Deficiency |
|
Hepatitis, Steatorrhea, Postprandial hyperglycemia, Cholestasis, Cholestatic liver disease, Porta... |
ORPHA:440713 |
Ebola Hemorrhagic Fever |
|
Vomiting, Diarrhea, Hepatitis, Acute pancreatitis, Nausea, Gastrointestinal hemorrhage, Dysphagia... |
ORPHA:319218 |
Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia |
ORPHA:681 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Pancreatitis, Diarrhea |
ORPHA:188 |
Cowden Syndrome 1 |
|
Hypothyroidism, Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian carcinoma, Ovarian cyst, ... |
OMIM:158350 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid hemiagenesis, Elevated circulating thyroid-stimulating hormone concentration, Compensated... |
ORPHA:209905 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Pancreatitis |
OMIM:145980 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hepatocellular carcinoma, Gout, Inflammation of the large intestine, Hypoglycemia, ... |
OMIM:232220 |
Short Syndrome |
|
Hyperglycemia, Insulin resistance, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Beta-Ketothiolase Deficiency |
|
Vomiting, Diarrhea, Hypoglycemia, Hepatomegaly, Hyperglycemia |
ORPHA:134 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary thyrotropic cell adenoma, Pituitary corticotropic cell adenoma, Neoplasm of the pancrea... |
ORPHA:652 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Diabetes mellitus, Hypoglycemia, Pancreatic aplasia, Hyperglycemia |
OMIM:609069 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Aspiration pneumonia, Pancreatitis |
ORPHA:431361 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Euthyroid hyperthyroxinemia, Increased circulating gonadotropin level, ... |
ORPHA:91347 |
Mirizzi Syndrome |
|
Vomiting, Cholesterol gallstones, Jaundice, Nausea, Cholelithiasis, Abnormality of the ductus cho... |
ORPHA:521219 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperglycemia, Hyperinsulinemia, Glucose intolerance, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Juvenile rheumatoid arthritis, Skin rash, Autoimmunity, Pericarditis, Hepatomegaly, Splenomegaly,... |
ORPHA:85414 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:145981 |
Carney Complex, Type 1 |
|
Thyroid carcinoma, Pituitary adenoma, Pheochromocytoma, Thyroid follicular hyperplasia, Elevated ... |
OMIM:160980 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Hypothyroidism, Cirrhosis, Anti-thyroid peroxidase antibody positivity, Anti-glutamic acid decarb... |
ORPHA:228426 |
Zygomycosis |
|
Diarrhea, Fasciitis, Pericarditis, Gastritis, Colitis, Hematemesis, Splenic abscess, Endocarditis... |
ORPHA:73263 |
Thyroid Ectopia |
|
Hypothyroidism, Ectopic thyroid, Jaundice, Abnormality of the thyroid gland |
ORPHA:95712 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level |
OMIM:610475 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Hepatic steatosis, Diabet... |
ORPHA:444490 |
Dysbetalipoproteinemia |
|
Hypothyroidism, Hepatic steatosis, Gout, Acute pancreatitis, Diabetes mellitus, Hepatomegaly |
ORPHA:412 |
Thyroid Hypoplasia |
|
Hypothyroidism, Jaundice, Thyroid hypoplasia |
ORPHA:95720 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:615812 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia |
ORPHA:178320 |
Caroli Syndrome |
|
Cirrhosis, Periportal fibrosis, Liver abscess, Hypersplenism, Jaundice, Cholangiocarcinoma, Chola... |
ORPHA:480520 |
Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Autoimmunity, Pancreatitis, Abnormality of thyroid physiology |
ORPHA:1830 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Citrullinemia Type Ii |
|
Hepatic fibrosis, Vomiting, Diarrhea, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, ... |
ORPHA:247585 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Vomiting, Acute pancreatitis, Hypoglycemia, Hepatomegaly, Dysphagia, Hepatic periportal necrosis |
ORPHA:26791 |
Pauci-Immune Glomerulonephritis |
|
Tubulointerstitial nephritis, Scleritis, Cytoplasmic antineutrophil antibody positivity, Glomerul... |
ORPHA:93126 |
Familial Mediterranean Fever |
|
Diarrhea, Skin rash, Arthritis, Pancreatitis, Erysipelas, Pericarditis, Intestinal obstruction, C... |
ORPHA:342 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypothyroidism, Enterocolitis, Diarrhea, Periodontitis, Thyroiditis, Hepatocellular carcinoma, Ul... |
ORPHA:79259 |
Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Hypothyroidism, Thyroiditis, Pancreatitis, Pituitary adenoma, Neoplasm... |
ORPHA:733 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cirrhosis, Granulomatous cholangitis, Anti-liver cytosolic antigen type 1 antibody positivity, Sc... |
ORPHA:562639 |
Pallister-Hall Syndrome |
|
Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s... |
OMIM:146510 |
Cystic Fibrosis |
|
Meconium ileus, Biliary cirrhosis, Cirrhosis, Diarrhea, Bronchiectasis, Chronic sinusitis, Steato... |
OMIM:219700 |
Familial Multinodular Goiter |
|
Hyperthyroidism, Thyroid carcinoma, Testicular seminoma, Multinodular goiter, Sertoli cell neopla... |
ORPHA:276399 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hypothyroidism, Crusting erythematous dermatitis, Anti-liver cytosolic antigen type 1 antibody po... |
ORPHA:37042 |
Autoimmune Polyendocrinopathy Type 4 |
|
Tubulointerstitial nephritis, Biliary cirrhosis, Atrophic gastritis, Iridocyclitis, Hepatitis, Rh... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
|
Tubulointerstitial nephritis, Autoimmune hypoparathyroidism, Biliary cirrhosis, Atrophic gastriti... |
ORPHA:227982 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Impaired glucose tolerance, Diabetic ketoacidosis, Insulin resistance, Postprandi... |
ORPHA:769 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Pancreatitis |
ORPHA:280365 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Diabetes insipidus, Decreased response to growth hormone stimul... |
OMIM:203800 |
Visceral Myopathy 1 |
|
Vomiting, Diarrhea, Constipation, Dysphagia, Pancreatitis, Gastroparesis |
OMIM:155310 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Jaundice, Nonketotic hypoglycemia, Episodic vomiting, Acute pancreatitis, Recurrent hyp... |
ORPHA:20 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Nephritis, Sinusitis, Parotitis, Dysphagia, Pancreatitis |
ORPHA:449427 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Hypothyroidism, Thyroid hypoplasia, Cryptorchidism, Thyroid agenesis, Thyroid dysgenesis, Ectopic... |
ORPHA:3047 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hepatomegaly, ... |
OMIM:248370 |
Granulomatosis With Polyangiitis |
|
Prostatitis, Skin rash, Inflammatory abnormality of the eye, Autoimmunity, Pericarditis, Chronic ... |
ORPHA:900 |
Aicardi-Goutieres Syndrome 9 |
|
Hypothyroidism, Hepatic fibrosis, Chilblains, Hepatosplenomegaly, Hepatic steatosis, Pericarditis... |
OMIM:619487 |
Peripheral Primitive Neuroectodermal Tumor |
|
Jaundice, Neoplasm of the pancreas, Pancreatitis |
ORPHA:370348 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Tubulointerstitial nephritis, Microvesicular hepatic steatosis, Periportal fibrosis, Cholangitis,... |
OMIM:124000 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Tubulointerstitial nephritis, Retroperitoneal fibrosis, Prostatitis, Inflammatory ... |
ORPHA:449395 |
Scorpion Envenomation |
|
Hyperhidrosis, Vomiting, Diarrhea, Glycosuria, Acute pancreatitis, Hyperglycemia, Myocarditis |
ORPHA:466677 |
Behçet Disease |
|
Endocarditis, Recurrent aphthous stomatitis, Arthritis, Keratoconjunctivitis sicca, Pancreatitis,... |
ORPHA:117 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ... |
ORPHA:226307 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Splenomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Hepatomegaly, Pancreatitis |
ORPHA:565612 |
Thyrotoxic Periodic Paralysis |
|
Hyperhidrosis, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxicosis w... |
ORPHA:79102 |
Igg4-Related Ophthalmic Disease |
|
Retroperitoneal fibrosis, Prostatitis, Thyroiditis, Cholangitis, Sinusitis, Orchitis, Keratitis, ... |
ORPHA:449563 |
Coccidioidomycosis |
|
Osteomyelitis, Abnormality of the liver, Folliculitis, Erythema nodosum, Skin rash, Arthritis, Mo... |
ORPHA:228123 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal amyloidosis, Peritonitis |
OMIM:134610 |
Pyruvate Carboxylase Deficiency |
|
Hyperglycemia, Hypoglycemia, Vomiting, Hepatomegaly |
ORPHA:3008 |
Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Bloody diarrhea, Vomiting, Diarrhea, Diabetes mellitus, Pneumonia, Nausea, Secr... |
ORPHA:544482 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Primary hyperparathyroidism, Pancreatitis |
OMIM:600740 |
Melas |
|
Hypothyroidism, Recurrent pancreatitis, Vomiting, Diarrhea, Type II diabetes mellitus, Type I dia... |
ORPHA:550 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hepatocellular carcinoma, Stomatitis, Hepatoblastoma, Gout, Inflammation of... |
OMIM:232240 |
Multiple Endocrine Neoplasia, Type Iib |
|
Nodular goiter, Parathyroid hyperplasia, Pheochromocytoma, Elevated calcitonin, Medullary thyroid... |
OMIM:162300 |
Idiopathic Hypereosinophilic Syndrome |
|
Vomiting, Erythroderma, Chronic diarrhea, Inflammatory abnormality of the skin, Arthritis, Pancre... |
ORPHA:3260 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Bloody diarrhea, Vomiting, Diarrhea, Peritonitis, Acute colitis, Pancreatitis |
ORPHA:90038 |
Trichohepatoneurodevelopmental Syndrome |
|
Hypothyroidism, Recurrent pancreatitis, Gastroesophageal reflux, Chronic diarrhea, Recurrent otit... |
OMIM:618268 |
Familial Hypocalciuric Hypercalcemia |
|
Autoimmunity, Pancreatitis |
ORPHA:405 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Hypothyroidism, Abnormality of the liver, Hyperthyroidism, Diabetes mellitus, Goiter |
ORPHA:254892 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Nodular goiter, Polycystic ovaries, Premature thelarche, Type I diabetes mellitus |
ORPHA:371428 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Hepatic steatosis, D... |
OMIM:608594 |
Marburg Hemorrhagic Fever |
|
Bloody diarrhea, Vomiting, Diarrhea, Skin rash, Arthritis, Jaundice, Uveitis, Pericarditis, Hypog... |
ORPHA:99826 |
Pten Hamartoma Tumor Syndrome |
|
Thyroid adenoma, Multinodular goiter, Thyroid carcinoma |
ORPHA:306498 |
Stevens-Johnson Syndrome |
|
Conjunctivitis, Diarrhea, Gastrointestinal hemorrhage, Dysphagia, Pancreatitis |
ORPHA:36426 |
Lysinuric Protein Intolerance |
|
Tubulointerstitial nephritis, Cirrhosis, Vomiting, Decreased response to growth hormone stimulati... |
ORPHA:470 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Lysinuric Protein Intolerance |
|
Splenomegaly, Vomiting, Diarrhea, Nausea, Hepatomegaly, Pancreatitis |
OMIM:222700 |
Leprechaunism |
|
Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Insulin resistance, Recurrent infan... |
ORPHA:508 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Gastroesophageal reflux, Aspiration pneumonia, Decreased response to growth hormo... |
ORPHA:444077 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mel... |
OMIM:269700 |
Toxic Epidermal Necrolysis |
|
Conjunctivitis, Pancreatitis, Gastrointestinal hemorrhage, Dysphagia |
ORPHA:537 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Central hypothyroidism, Hypohidrosis, Increased circulating prolactin concentration, Gonadotropin... |
ORPHA:293987 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Constipation, Dysphagia, Primary hyperparathyroidism, Pancreatitis |
ORPHA:99880 |
Crimean-Congo Hemorrhagic Fever |
|
Conjunctivitis, Hyperhidrosis, Diarrhea, Hemoperitoneum, Erythema nodosum, Adrenal insufficiency,... |
ORPHA:99827 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Diabetes mellitus, Hyperg... |
OMIM:600001 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Constipation, Dysphagia, Primary hyperparathyroidism, Pancreatitis |
ORPHA:143 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Glycosuria, Type II diabetes mellitus, Hepatic steatosis, Diabetes mellitus, In... |
ORPHA:79474 |
Phace Association |
|
Lingual thyroid, Congenital hypothyroidism |
OMIM:606519 |
Bardet-Biedl Syndrome 20 |
|
Pancreatitis |
OMIM:619471 |
Muckle-Wells Syndrome |
|
Delayed puberty, Renal amyloidosis, Splenomegaly, Hepatomegaly |
ORPHA:575 |
Cowden Syndrome |
|
Enlarged polycystic ovaries, Adenoma sebaceum, Neoplasm of the thyroid gland, Follicular thyroid ... |
ORPHA:201 |
Branchiootorenal Syndrome 1 |
|
Euthyroid goiter |
OMIM:113650 |
Carney Complex |
|
Precocious puberty, Neoplasm of the pancreas, Hepatocellular carcinoma, Follicular thyroid carcin... |
ORPHA:1359 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Vomiting, Hypoglycemia, Dysphagia, Hyperglycemia, Increased hep... |
OMIM:220111 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Multinodular goiter |
OMIM:618373 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Renal amyloidosis |
OMIM:120100 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Vomiting, Diarrhea, Impaired glucose tolerance, Insulin resistance, Type ... |
OMIM:606721 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatic steatosis, Diabetes mellitus, Cholecystitis, Hepatomegaly |
ORPHA:98908 |
Muckle-Wells Syndrome |
|
Renal amyloidosis |
OMIM:191900 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Nodular goiter, Thyroiditis, Abnormality of the submandibular glands, A... |
ORPHA:79078 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Congenital hypothyroidism, Thyroid hypoplasia |
ORPHA:521445 |
Stüve-Wiedemann Syndrome |
|
Hypothyroidism, Ectopic thyroid, Hypohidrosis, Hyperhidrosis |
ORPHA:3206 |
Phace Syndrome |
|
Hypothyroidism, Ectopic thyroid |
ORPHA:42775 |
Yellow Fever |
|
Vomiting, Diarrhea, Pancreatic hyperplasia, Skin rash, Jaundice, Acute pancreatitis, Nausea, Hema... |
ORPHA:99829 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves |
ORPHA:282166 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia |
OMIM:300952 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Thyroid hypoplasia, Adrenal hypoplasia, Cryptorch... |
ORPHA:2166 |
Treacher-Collins Syndrome |
|
Abnormality of the adrenal glands, Hypoplasia of the thymus, Thyroid hypoplasia, Cryptorchidism |
ORPHA:861 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Thyroid hypoplasia, Adrenal hypoplasia |
OMIM:308050 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis |
ORPHA:85451 |
Pallister-Hall Syndrome |
|
Precocious puberty, Gonadotropin deficiency, Decreased testicular size, Hypopituitarism, Thyroid ... |
ORPHA:672 |
Alström Syndrome |
|
Recurrent sinusitis, Hepatosplenomegaly, Hepatic steatosis, Glomerulonephritis, Decreased circula... |
ORPHA:64 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Thyroid hypoplasia, Hepatosplenomegaly, Sm... |
OMIM:619503 |
Keratolytic Winter Erythema |
|
Pustule, Hyperhidrosis |
ORPHA:50943 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Delayed puberty, Renal amyloidosis |
ORPHA:79408 |
Keratolytic Winter Erythema |
|
Palmoplantar hyperhidrosis |
OMIM:148370 |