Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Pancreatic Agenesis 2 |
|
Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia |
OMIM:615935 |
Pancreatic Colipase Deficiency |
|
Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:618752 |
Pancreatitis, Hereditary |
|
Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocrine pancreatic i... |
OMIM:167800 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Pancreatic aplasia, Exocrine pancreatic insufficiency |
OMIM:260370 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency |
OMIM:609812 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Chylous Ascites |
|
Lymphedema, Neoplasm, Abnormal intestine morphology, Ascites, Pancreatitis |
ORPHA:1160 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer |
ORPHA:145 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Hepatomegaly, Abnormal large intestine morphology, Esophageal neoplasm, Weight loss, Ascites |
ORPHA:2198 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui... |
ORPHA:64744 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Pancreatic insufficiency, combined exocrine |
|
Anal atresia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:612714 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites |
ORPHA:890 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Exocrine pancreatic insuffici... |
ORPHA:452 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Lymphoma, Ascites |
ORPHA:100025 |
Duodenal Atresia |
|
Abnormality of the pancreas, Annular pancreas, Duodenal atresia |
ORPHA:1203 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Mantle Cell Lymphoma |
|
Splenomegaly, B-cell lymphoma, Weight loss |
ORPHA:52416 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Ileus, Pedal edema, Weight loss, Neoplasm, Ascites |
ORPHA:168811 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach |
ORPHA:618 |
Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell car... |
ORPHA:314473 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:619874 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ... |
OMIM:200995 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... |
OMIM:145001 |
Wolman Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Esophageal varix, Ascites, Steatorrhea, Hepatic failure |
ORPHA:75233 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Celiac disease, Hepatosplenomegaly, Abnormal intestine morphology, Achalasia, Hypothyroidism, Exo... |
OMIM:615952 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss |
ORPHA:86893 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrhea, Hepatic steatos... |
OMIM:616263 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Pancreatic fibrosis |
OMIM:615503 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... |
OMIM:614350 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Polyhydramnios, Hemangiomatosis, Visceral angiomatosis, Hydrops fetalis, Ascites |
ORPHA:2123 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Portal vein hypoplasia, Hydrops fetalis, Ascites |
OMIM:619433 |
Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Retroperitoneal fibrosis, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas m... |
ORPHA:449432 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Jaundice, Extrahepatic cholestasis, Hep... |
ORPHA:1333 |
Diencephalic Syndrome |
|
Neoplasm of the nervous system, Cachexia, Decreased body weight |
ORPHA:1672 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Inflammation of the large intestine, Hepatocellu... |
OMIM:232220 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Weight loss, Sarcoma |
ORPHA:66661 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Chronic diarrhea, Macronodular... |
OMIM:557000 |
Glycogen Storage Disease Iv |
|
Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis,... |
OMIM:232500 |
Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Intestinal obstruction, Porta... |
ORPHA:131 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic in... |
OMIM:617941 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease |
OMIM:174050 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Lymphedema, Malabsorption, Splenomegaly, Furrowed t... |
ORPHA:2930 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P... |
OMIM:602347 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic hepatitis, Cirrhosis... |
OMIM:269200 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas |
ORPHA:65288 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Failure to thrive in infancy |
OMIM:619175 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Inflammation of the large in... |
ORPHA:26790 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice... |
ORPHA:858 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites, Ab... |
ORPHA:314478 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl... |
ORPHA:370348 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... |
ORPHA:247806 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive |
ORPHA:172 |
Hydrops Fetalis |
|
Small for gestational age, Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial eff... |
ORPHA:1041 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Hydrops fetalis, High palate, Ascites |
OMIM:269920 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis |
OMIM:608189 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Hamartoma, Cleft palate, Weight loss |
ORPHA:141152 |
Johanson-Blizzard Syndrome |
|
Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anal atresia, Exocrine pancre... |
ORPHA:2315 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... |
OMIM:133180 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites |
ORPHA:2414 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... |
ORPHA:97278 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:605911 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Lymphoma, Weight loss, Pleural effusion |
ORPHA:545 |
Pearson Syndrome |
|
Hypoparathyroidism, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Decreased res... |
ORPHA:699 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Jaundice, Central hypothyroidism, Abnormality of the liver, Hypothyroidism, Exocrin... |
ORPHA:1667 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Multiple lipomas |
ORPHA:2398 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,... |
OMIM:263520 |
Mody |
|
Pancreatic hypoplasia, Hepatocellular adenoma, Exocrine pancreatic insufficiency |
ORPHA:552 |
Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido... |
ORPHA:314652 |
Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... |
ORPHA:139507 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... |
OMIM:615710 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Median cleft palate, Large for gestational age |
ORPHA:2432 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Weight loss, Slender build |
OMIM:613662 |
Grfoma |
|
Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Adrenocortical ade... |
ORPHA:97261 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Hodgkin lymphoma, Hepatosplen... |
OMIM:615122 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Nonimmune hydro... |
OMIM:617049 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Pancreatic adenocarcinoma, Intestinal obstruction, Stomach cancer, Biliary ... |
ORPHA:2869 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
Rauch-Steindl Syndrome |
|
Hepatomegaly, Chronic constipation, Exocrine pancreatic insufficiency |
OMIM:619695 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive |
ORPHA:67046 |
Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Ascites |
ORPHA:615 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... |
ORPHA:97283 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Hydrops fetalis, Ascites |
ORPHA:834 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia, Cryptorchidism... |
ORPHA:564 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Nonimmune hydrops fetalis, Portal... |
ORPHA:367 |
Vipoma |
|
Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the l... |
ORPHA:97282 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo... |
ORPHA:79493 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract... |
ORPHA:79301 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Failure to thrive, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Bone Marrow Failure Syndrome 3 |
|
Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency |
OMIM:617052 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Refractory anemia with ringed sideroblasts, Cachexia |
ORPHA:1133 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, Hepatic fibrosis, Ci... |
OMIM:300972 |
Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Hematological neoplasm, Cachexia, Splenomegaly, Hepatosplenome... |
ORPHA:824 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosis, Hepatosplenome... |
OMIM:219700 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Ascites, Hydrops fetalis |
ORPHA:295 |
Perlman Syndrome |
|
Hepatomegaly, Abnormal pancreas morphology, High, narrow palate, Cryptorchidism |
ORPHA:2849 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly |
OMIM:609016 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Decreased liver function, He... |
ORPHA:42 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob... |
OMIM:193300 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Polyhydramnios, Oligohydramnios |
ORPHA:1046 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas, Abnormality of ex... |
ORPHA:93111 |
Muir-Torre Syndrome |
|
Endometrial carcinoma, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, A... |
ORPHA:587 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr... |
OMIM:619418 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellula... |
OMIM:235200 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Neoplasm of... |
ORPHA:100086 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Edema, Cryptorchidism, Cholestasis, Protein-losing enteropathy, ... |
OMIM:608104 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Microglossia, Hydrops fetalis, Nephroblastoma, Ascites |
OMIM:253250 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit... |
ORPHA:234 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Edema, Malabsorption, Splenomegaly, Weight loss, Failure to thrive |
ORPHA:77297 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Failure to thrive |
OMIM:230350 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hematological neoplasm, Hypersplenism, Malabsorption, Hepatosplenomegaly, We... |
ORPHA:98850 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Int... |
ORPHA:100085 |
Galactose Mutarotase Deficiency |
|
Hepatomegaly, Failure to thrive, Decreased liver function, Cholestasis |
ORPHA:570422 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Macroglossia, Recurrent pancreatitis, Hypoplastic n... |
OMIM:618268 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Deeah Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... |
OMIM:619004 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:269840 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Neuroendocrine neoplasm, Neoplasm of the larynx, Adrenocorticotropic hormone excess |
ORPHA:100083 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... |
ORPHA:93941 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
ORPHA:796 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Pleural effusio... |
OMIM:614702 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Hepatomegaly, Jaundice, Elevated circulating aspartate aminotransferase concentration |
OMIM:614876 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic liver disease, Polysplenia |
OMIM:211890 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Malabsorption, Cirrhosis, Exocrine pancreatic insufficiency |
OMIM:616539 |
Shwachman-Diamond Syndrome 1 |
|
Hepatomegaly, Steatorrhea, Exocrine pancreatic insufficiency |
OMIM:260400 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:257200 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Pancreatic aplasia, High palate, Exocrine pancreatic insufficiency |
OMIM:618500 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intestinal obstruction, Elevated circulating growth hormo... |
ORPHA:97280 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Ascites |
OMIM:256550 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma... |
ORPHA:252183 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Atrophic muscularis propria, Weight loss, Macrovesicular... |
ORPHA:298 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Primary hyperparathyroidism, Abnormal liver parenchyma morpholog... |
ORPHA:1332 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Weight loss, Malabsorption |
ORPHA:42642 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Biliary tract abnormality, Multiple g... |
OMIM:175200 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Malabsorption, Splenomegaly, Jaundice, C... |
OMIM:214900 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Perlman Syndrome |
|
Distal ileal atresia, Renal hamartoma, Edema, Polyhydramnios, Large for gestational age, Cryptorc... |
OMIM:267000 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Enlarged lacrimal glands, Xerostomia, Enlargement of parotid gland, Nod... |
ORPHA:79078 |
Pleural Mesothelioma |
|
Hepatomegaly, Pleural effusion, Weight loss |
ORPHA:50251 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Esophageal varix, Cirrh... |
OMIM:215600 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Hydrops fetalis, Hemangioma, Ascites |
ORPHA:90308 |
Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Weight loss |
ORPHA:100024 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Edema, Disseminated cutaneous warts, Pericardial effusion, Weight loss, Inte... |
ORPHA:90362 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas |
ORPHA:2924 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intestinal malrotation, Biliary atresia, Congenital hypothyroidism, Pancreatic aplasia, Aplasia/H... |
ORPHA:2255 |
Kaposi Sarcoma |
|
Lymphoproliferative disorder, Lymphedema, Abnormality of the spleen, Neoplasm by anatomical site,... |
ORPHA:33276 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Neoplasm |
ORPHA:391 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Pyloric stenosis, Hepatitis, Pedal edema, Ascites |
ORPHA:381 |
Hereditary Chronic Pancreatitis |
|
Jaundice, Recurrent pancreatitis, Pancreatic calcification |
ORPHA:676 |
Renpenning Syndrome |
|
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm of the breast, Neoplasm of the re... |
ORPHA:2221 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Abnormality of the pancreas, Jaundice, ... |
ORPHA:69665 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Lymphe... |
ORPHA:109 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... |
ORPHA:2137 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypert... |
OMIM:619487 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Cystic Fibrosis |
|
Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesophageal reflux... |
ORPHA:586 |
Orofaciodigital Syndrome Type 1 |
|
Hamartoma of tongue, Pancreatic cysts, Abnormality of the pancreas, Cleft palate, Lobulated tongu... |
ORPHA:2750 |
Nephroblastoma |
|
Weight loss, Neoplasm of the lung, Neoplasm of the liver, Neoplasm, Nephroblastoma |
ORPHA:654 |
Rhabdoid Tumor |
|
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Edema, Malabsorption, Abnormal intestine morphology, Intest... |
OMIM:226300 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of the large... |
ORPHA:171 |
Eosinophilic Gastroenteritis |
|
Edema, Malabsorption, Weight loss, Protein-losing enteropathy, Steatorrhea, Ascites |
ORPHA:2070 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Dehydration |
ORPHA:28 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Shwachman-Diamond Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Fat malabsorption, Steatorrh... |
ORPHA:811 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Angioedema, Lymphoma, Pleural effusion, Ascites |
ORPHA:36412 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Jaundice, Ascites, Hepatic failure |
ORPHA:79239 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mass, Genital neop... |
ORPHA:2126 |
Reynolds Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Cirrhosis, Ascites |
ORPHA:779 |
Renal Cysts And Diabetes Syndrome |
|
Pancreatic hypoplasia, Biliary tract abnormality, Exocrine pancreatic insufficiency |
OMIM:137920 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Ascites, Edema |
OMIM:603278 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, High palate, Polyhydramnios, Weight loss |
OMIM:620045 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Portal hypertension, Cryptorchidism, Macronodular cirrhosis, Hepatic fibrosis, ... |
OMIM:620005 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis... |
ORPHA:369 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Liposarcoma |
|
Weight loss, Sarcoma |
ORPHA:69078 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology... |
ORPHA:2470 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Failure to thrive, Cystoid macular e... |
OMIM:613861 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly, Hydrops fetalis, Polyhydramnios |
ORPHA:2204 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:79084 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Lymphedema, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidi... |
OMIM:235255 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundice, Biliary tract abnormality,... |
ORPHA:1414 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Edema, Hydrops fetal... |
ORPHA:79325 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp... |
OMIM:616828 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Hydrocele testis, Pleural ... |
ORPHA:69735 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:143 |
Hirschsprung Disease |
|
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure to thrive in infancy... |
ORPHA:388 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice |
OMIM:243300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:237800 |
Poems Syndrome |
|
Lymphoproliferative disorder, Edema, Pericardial effusion, Weight loss, Pleural effusion, Hemangi... |
ORPHA:2905 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper... |
ORPHA:275761 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Cholestasis, Edema |
OMIM:105200 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Leukemia |
OMIM:614470 |
Tempi Syndrome |
|
Transudative pleural effusion, Hemangioma, Ascites |
ORPHA:284227 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Lymphedema, Splenomegaly, Acute leukemia, Weight loss, Myeloproliferative disorder |
ORPHA:3226 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Narrow palate, Cachexia, High palate, Polyhydramnios |
OMIM:618186 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Neoplasm, Hep... |
ORPHA:2959 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:613313 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Neoplasm, Weight loss |
ORPHA:168816 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... |
ORPHA:97289 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619048 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, Neoplasm of the skin |
ORPHA:2584 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
Pseudo-Torch Syndrome 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pleural effusion, Ascites |
OMIM:617397 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Cirrhosis, Ascites,... |
ORPHA:77259 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Pedal edema |
ORPHA:3452 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Mitochondrial Myopathy, Infantile, Transient |
|
Macroglossia, Hepatomegaly, Failure to thrive |
OMIM:500009 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Jaundice, Peripheral edema, Cirrhosis, Left ventricular hypertrophy, ... |
ORPHA:57777 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Lymphangiectasia, Pulmonary, Congenital |
|
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... |
OMIM:265300 |
Feingold Syndrome |
|
Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia |
ORPHA:1305 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Hepatosp... |
ORPHA:1655 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Jaundice |
OMIM:613977 |
Dengue Fever |
|
Hepatomegaly, Ascites |
ORPHA:99828 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:256810 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Melioidosis |
|
Liver abscess, Abnormality of the spleen, Hepatitis, Abnormal parotid gland morphology, Splenic a... |
ORPHA:31202 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cryptorchidism, Splenomegaly, Abnormal pancreas morphology, Pseudohypoparathyroidis... |
ORPHA:116 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Abnormal intestine morphology, Intestinal lymphoid nodular ... |
ORPHA:397596 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Chronic gastritis, Biliary hyperplasia, Intrahepatic cholestasis, Jaundice, Portal ... |
OMIM:619991 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure |
OMIM:618549 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Small for gestational age, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Cleft palate, Pleural e... |
OMIM:616897 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:619232 |
Alagille Syndrome 1 |
|
Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ducts, Cirrhosis, Prol... |
OMIM:118450 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia |
ORPHA:220295 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Splenomegaly, Oral ulcer, Enlargement of... |
ORPHA:50918 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, Enlarged pol... |
ORPHA:91348 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega... |
OMIM:276700 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papi... |
ORPHA:1359 |
Immunodeficiency 54 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Adrenocorticotropic hormone excess, Fai... |
OMIM:609981 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Polyhydramnios |
ORPHA:2774 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Small for gestational age, Nonimmune hydrops fetalis, Decreased liver function, Ascites, Oligohyd... |
OMIM:617021 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Polyhydramnios, Microvesicular hepatic steatosi... |
OMIM:617156 |
Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating g... |
ORPHA:64739 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Exocrine pancreatic insufficiency |
ORPHA:508498 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Oral-pharyngeal dysphagia, Splenomegaly, Hypohidrosis, Primary hypothyroidism, Dysp... |
OMIM:219800 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Spl... |
OMIM:608013 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Portal hypertension, J... |
ORPHA:79124 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Edema, Hepatic fibrosis, Decreased liver function, Protein-los... |
ORPHA:79319 |
Congenital Sialidosis Type 2 |
|
Hepatomegaly, Edema, Protruding tongue, Hepatosplenomegaly, Ascites |
ORPHA:93400 |
Gracile Bone Dysplasia |
|
Asplenia, Ascites, Hypoplastic spleen, Failure to thrive, Ankyloglossia |
OMIM:602361 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:99880 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso... |
ORPHA:210122 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Cachexia, Failure to thrive, Supernumerary nipple |
ORPHA:217346 |
Primary Biliary Cholangitis |
|
Portal hypertension, Celiac disease, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepati... |
ORPHA:186 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Dehydration, Failure to thrive, Pancreatitis |
ORPHA:79312 |
Adams-Oliver Syndrome |
|
Failure to thrive, Portal hypertension, Congenital hepatic fibrosis, Esophageal varix, Cirrhosis,... |
ORPHA:974 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexia, Lymphoma, T-cell lymphoma, Cl... |
ORPHA:647 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Dehydration, Failure to thrive |
OMIM:618958 |
Systemic Capillary Leak Syndrome |
|
Pedal edema, Weight loss, Multiple myeloma, Pleural effusion, Pancreatitis, Pulmonary edema |
ORPHA:188 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Edema, Weight loss |
ORPHA:33577 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Cirrhosis, Hepatic ... |
OMIM:613489 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Tracheoesophageal fistula, Weight loss, Neoplasm of the lung, Ma... |
ORPHA:142 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Ascites, Pulmonary edema |
OMIM:115197 |
Nephronophthisis 13 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:614377 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Hepatomegaly, Jaundice, Edema |
OMIM:603552 |
Campomelia, Cumming Type |
|
Hepatomegaly, Myelodysplasia, Lymphedema, Pancreatic cysts, Abnormality of the pancreas, Hydrops ... |
ORPHA:1318 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Xerostomia,... |
ORPHA:85443 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly, Neoplasm, Lymphoma |
OMIM:240500 |
Farber Disease |
|
Elevated hepatic transaminase, Failure to thrive, Intrahepatic cholestasis with episodic jaundice... |
ORPHA:333 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Villous atrophy, Necrotizing enterocolitis, Elevated circulatin... |
OMIM:619573 |
Mucopolysaccharidosis Type 7 |
|
Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites |
ORPHA:584 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Malabsorption, Splenomegaly, Lymphom... |
ORPHA:1775 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:615085 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly |
OMIM:618852 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short uvula, Hydrops fetalis, Cleft palate, High palate, Hepatic fibrosis, Ascites |
OMIM:614091 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:278000 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Hepatomegaly, Portal hypertension, Abnormal reproducti... |
ORPHA:797 |
Pancreatoblastoma |
|
Jaundice, Vomiting, Pancreatic calcification, Diarrhea |
ORPHA:677 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly |
OMIM:619064 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Ascites, Cachexia |
OMIM:610965 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Edema |
OMIM:611719 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Neoplasm of the skin, Weight loss |
ORPHA:317 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Palpebral edema, Edema, Weight loss |
ORPHA:99868 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Intestinal lymphedema, B-cell lymphoma, Edema, Lymphedema, Celiac disease... |
ORPHA:90363 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Failure to thrive, Edema, Hepatic fibrosis, Protein-losing enterop... |
OMIM:602579 |
Necrotizing Enterocolitis |
|
Peritonitis, Ascites, Small for gestational age, Edema |
ORPHA:391673 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Polyhydramnios, Increas... |
ORPHA:1052 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, ... |
OMIM:614602 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Hydrops fetalis, Oligohydramnios |
ORPHA:163596 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Edema, Polyhydramnios, Splenomegaly, L... |
OMIM:269860 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Decreased body weight |
OMIM:231000 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Juvenile Polyposis Of Infancy |
|
Cachexia, High, narrow palate, Rectal prolapse, Adenomatous colonic polyposis, Hamartomatous poly... |
ORPHA:79076 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Liver abscess, Abnormality of the pancreas, Weight loss, Abnormal ... |
ORPHA:54251 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ... |
ORPHA:2929 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Dehydration, Malabsorption |
ORPHA:33355 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, Polyhydramnios, Intrahepatic cholestasis, Ascites, ... |
OMIM:606812 |
Cystic Echinococcosis |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal peritoneum morphology, Abnormality of the t... |
ORPHA:400 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Hepatomegaly, Cirrhosis |
OMIM:602390 |
Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Hepatic cysts, Intrahepatic bile duct dilatation |
OMIM:616307 |
X-Linked Creatine Transporter Deficiency |
|
Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
Polycythemia Vera |
|
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... |
ORPHA:729 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... |
OMIM:616860 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Dehydration, Weight ... |
ORPHA:92050 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma, Weight loss |
ORPHA:97286 |
Propionic Acidemia |
|
Hepatomegaly |
ORPHA:35 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Hypoparathyroidism, Elevated circulating aspartate aminotran... |
OMIM:277900 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Peritonitis, Abnormality of the parathyroid gla... |
ORPHA:2552 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuroma |
OMIM:256700 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... |
OMIM:203700 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Gastroesophageal reflux, Dysphagia, Exo... |
ORPHA:508488 |
Farber Lipogranulomatosis |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Joint swelling |
OMIM:228000 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Splenomegaly |
ORPHA:507 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size |
ORPHA:813 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Duodenal ulcer, Steatorrhea, Malabsorption |
ORPHA:3217 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, ... |
ORPHA:37042 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis |
OMIM:608600 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Edema, Splenomegaly, Lymphoma, Neoplasm of the skin |
ORPHA:3162 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Failure to thrive, High palate |
ORPHA:50812 |
Aceruloplasminemia |
|
Abnormal pancreas morphology, Hepatic fibrosis, Cirrhosis, Elevated hepatic iron concentration |
ORPHA:48818 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Pedal edema, Weight loss, Pleural effusion, Pulmonary edema |
ORPHA:330001 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:618495 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Hepatomegaly, Peptic ulcer, Myelodysplasia, Hematological neoplasm, Splen... |
ORPHA:98849 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Hepatomegaly, Hodgkin lymphoma, Celiac disease |
OMIM:619375 |
Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss, Goiter |
OMIM:275000 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Failure to thrive, Small for gestational age, Intestinal malrotati... |
OMIM:613658 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Failure to thrive, Hypoplasia of the thymus |
OMIM:300400 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cleft palate, Bile duct proliferation, He... |
OMIM:607361 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Hepatomegaly, Hematological neoplasm |
ORPHA:98848 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Portal hypertension, Malabsorption, Cryptorchidism, Intrahepat... |
OMIM:243800 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Microvesicular hepatic steatosis, Cholestasis, Dehydr... |
OMIM:619377 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... |
OMIM:606003 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph... |
ORPHA:252164 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Esophageal varix, Dehydration,... |
OMIM:263200 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Lymphoproliferative disorder, B-cell lymphoma, Pericardial effusion, Splenomegaly, ... |
OMIM:613011 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Jaundice, C... |
ORPHA:79303 |
Lymphangioleiomyomatosis |
|
Renal neoplasm, Lymphedema, Retinal hamartoma, Renal angiomyolipoma, Chylopericardium, Chylothora... |
ORPHA:538 |
X-Linked Intellectual Disability, Cabezas Type |
|
High palate, Decreased testicular size, Cachexia, Obesity |
ORPHA:85293 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Thymoma |
|
Neoplasm of head and neck, Ulcerative colitis, Weight loss, Neoplasm of the lung, Neoplasm, Neopl... |
ORPHA:99867 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Failure to thrive, Weight loss |
ORPHA:1842 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car... |
ORPHA:100080 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Facial edema, Pedal edema, Hydrocele testis, Anasarca, Pleural effusion, ... |
ORPHA:567546 |
Nephronophthisis-Like Nephropathy 1 |
|
Pancreatic cysts, Chronic pancreatitis |
OMIM:613159 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Truncal obesity, Hepatic failure |
OMIM:301072 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Weight loss, Chronic myelogenous leukemia |
ORPHA:71493 |
Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, High palate, Pleural effusion, Ascites |
OMIM:620369 |
Immunodeficiency 27A |
|
Splenomegaly, Weight loss, Hepatosplenomegaly |
OMIM:209950 |
Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Hydrocele testis, Hemangioma, Ascites |
OMIM:620244 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... |
OMIM:603041 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Cardiomegaly |
OMIM:600649 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Cryptorchidism, Anasarca, Protein-losing enteropathy, Pleur... |
OMIM:618183 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Hepatitis, Weight loss, Glossoptosis, Neoplasm, Failure to thrive |
ORPHA:47 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Intestinal obstruction, Malabsorption, Orchitis, Splenomegaly, Peritonitis... |
ORPHA:342 |
Atelosteogenesis Type I |
|
Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate |
ORPHA:1190 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly, Hyperparathyroidism |
OMIM:618107 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Rectal abscess, Pleural effusion, Ascites |
OMIM:306400 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:615631 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, J... |
ORPHA:465508 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Pleural effusion, Joint swelling |
ORPHA:85414 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Edema |
ORPHA:158029 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Cryptorchidism, Cleft palate, Wide mouth, Abnormal parotid gland morphology, N... |
OMIM:154500 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Dehydration |
ORPHA:27 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic failure, Ascites |
OMIM:259720 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:615387 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Failure to thrive in infancy, Dehydration, Weight loss |
ORPHA:171876 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Lymphedema, Pericardial effusion, Splenomegaly, Ma... |
ORPHA:2136 |
Trisomy 18 |
|
Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia, Oligohyd... |
ORPHA:3380 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Splenomegaly, Refractory anemia with ringed... |
ORPHA:75564 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Neoplasm of the stomach, Pancreatoblastoma, Pituitary corticotropic cell ade... |
ORPHA:99889 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin ... |
ORPHA:913 |
Infantile Krabbe Disease |
|
Failure to thrive, Cachexia |
ORPHA:206436 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Villous atrophy, Malabsorption, Lymphoma, Weight loss, Protein-los... |
ORPHA:398063 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Weight loss, Ulcerative colitis, Inflammation of the large intestine |
OMIM:266600 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Omenn Syndrome |
|
Hepatomegaly, Edema, Splenomegaly, Lymphoma, Failure to thrive |
ORPHA:39041 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Myeloproliferative disorder, P... |
ORPHA:79456 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Atypical pulmonary carcinoid tumor, Car... |
ORPHA:100082 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Pleural effusion, Ascites, Edema |
ORPHA:93552 |
Harderoporphyria |
|
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cerebral edema |
OMIM:201450 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:79292 |
Felty Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphoma, Weight loss |
ORPHA:47612 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Pancreatic cysts, Jaundice, Abnormal mesentery m... |
ORPHA:284 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... |
OMIM:613404 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Weight loss, Pleural empyem... |
ORPHA:67 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Schwartz-Jampel Syndrome |
|
Polyhydramnios, Cachexia, Cleft palate, Odontogenic neoplasm, High palate, Decreased body weight,... |
ORPHA:800 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Failure to thrive, Pancreatitis, Dehydration |
OMIM:251000 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Pedal edema |
ORPHA:422 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Proteus Syndrome |
|
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Lymphedema, Retinal hamartoma, Neoplasm ... |
ORPHA:744 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Acute Monoblastic/Monocytic Leukemia |
|
Periorbital edema, Acute monocytic leukemia, Weight loss |
ORPHA:514 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Annular pancreas, High palate, Constipation |
OMIM:618162 |
Oculopharyngodistal Myopathy |
|
High, narrow palate, High palate, Weight loss |
ORPHA:98897 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Igg4-Related Ophthalmic Disease |
|
Cholangitis, Orchitis, Retroperitoneal fibrosis, Abnormality of the anterior pituitary, Enlarged ... |
ORPHA:449563 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hy... |
OMIM:604292 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites |
ORPHA:2848 |
Bohring-Opitz Syndrome |
|
Bilateral cleft palate, Intestinal malrotation, Supernumerary nipple, Narrow palate, Gastroesopha... |
OMIM:605039 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Macroglossia, Anasarca, Peripheral edema, Pleural effusion, A... |
OMIM:261740 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... |
OMIM:129900 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Lymphedema, Hydrocele testis |
OMIM:620014 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Splenomegaly, Abnormality of the spleen, Esophageal varix, Hepatosplenomegaly, Gastric ... |
ORPHA:2072 |
Pneumocystosis |
|
Pleural effusion, Neoplasm, Weight loss |
ORPHA:723 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries, Abnormal sa... |
ORPHA:2298 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Cryptorchidism, E... |
ORPHA:2363 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Elevated circulating growth hormone concentration, Weight loss, Pulmonary carcinoid... |
ORPHA:97287 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
Wolfram Syndrome 2 |
|
Gastric ulcer, Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
Camurati-Engelmann Disease |
|
Splenomegaly, Hepatomegaly, Slender build, Cachexia |
ORPHA:1328 |
Inflammatory Bowel Disease 11 |
|
Inflammation of the large intestine, Weight loss |
OMIM:191390 |
Attrv30M Amyloidosis |
|
Weight loss, Cardiomegaly |
ORPHA:85447 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Hepatomegaly, Elevated hepatic iron concentration |
OMIM:615234 |
Polymyositis |
|
Hepatomegaly, Breast carcinoma, Weight loss |
ORPHA:732 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, High palate, Oligohydramnios |
OMIM:619053 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly |
OMIM:620296 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Laryngeal papilloma |
OMIM:617388 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly |
OMIM:601979 |
Immunodeficiency 22 |
|
Failure to thrive, Ascites |
OMIM:615758 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Cachexia, Cardiomegaly, Splenomegaly, Pedal edema, Peripheral edema, Ascites |
ORPHA:75565 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular adeno... |
ORPHA:264580 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Intestinal perforation, Abnormality of the liver, Ascites |
ORPHA:464321 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
17Q12 Microdeletion Syndrome |
|
Cryptorchidism, Pancreatic aplasia |
ORPHA:261265 |
Gitelman Syndrome |
|
Parathyroid adenoma, Pericardial effusion, Failure to thrive, Neoplasm of the pancreas |
ORPHA:358 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Increased body weight, Weight l... |
ORPHA:1501 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Polycystic ovaries |
ORPHA:79085 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis |
OMIM:613280 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Midgut malrotation, Ovarian neopla... |
ORPHA:100079 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Paraganglioma, Weight loss |
ORPHA:94080 |
Congenital Enterovirus Infection |
|
Polyhydramnios, Fetal ascites, Pericardial effusion, Hepatitis, Cholestasis, Hydrops fetalis, Ple... |
ORPHA:292 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Goiter |
OMIM:188580 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Splenomegaly, Jaundice, Hydrops fetalis, Hepatosplenomegaly, Ascites... |
ORPHA:646 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... |
ORPHA:276621 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Weight loss, Paraganglioma, Atypical pulmonary carci... |
ORPHA:100075 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericardial effusion, Splenomegaly, Hepatitis, Hepat... |
ORPHA:781 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Polycystic ovaries, Cirrhosis, Hepatic s... |
ORPHA:79086 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Pyloric stenosis, Rectal prolapse, Hypoplasia of the thymus,... |
OMIM:613177 |
Eosinophilic Fasciitis |
|
Muscular edema, Edema, Weight loss |
ORPHA:3165 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Edema, Jaundice, Lipid accumulat... |
ORPHA:20 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Cap Polyposis |
|
Atrophic gastritis, Colorectal polyposis, Weight loss |
ORPHA:160148 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... |
ORPHA:29072 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Neoplasm of the tongue |
ORPHA:100026 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Edema |
OMIM:619183 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Splenomegaly, Prolonged neonatal jau... |
OMIM:257220 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Goiter |
OMIM:613239 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Intestinal obstruction, Primary testicular failure, Intestinal perforation, Hepatos... |
ORPHA:85450 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Pleural effusion, Weight loss |
ORPHA:411703 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Weight loss, Edema, Dehydration |
ORPHA:134 |
Feingold Syndrome 1 |
|
Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Tracheoesophageal fistula, High ... |
OMIM:164280 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cryptorchidism, Splenomegaly |
ORPHA:191 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia |
ORPHA:1969 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Hydrops fetalis, Prolonged neonatal jaundice |
OMIM:224120 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Abnormal mesentery morphology, Gastric ulcer, Hypogon... |
ORPHA:3463 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Weight loss, Hepatosplenomegaly |
OMIM:613673 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Splenomegaly, Enlarged lacrimal glands, Inflammation of the large intestine, Abnorm... |
OMIM:181000 |
Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Cerebral edema, Cirrhosis |
OMIM:215700 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Pericardial effusion, Splenomegaly, Jaundice, Orchitis, Hemoper... |
ORPHA:99827 |
Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Capillary hemangioma |
ORPHA:1556 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Angioedema, Hepatitis, Weight loss |
ORPHA:139402 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Williams Syndrome |
|
Hypoplasia of penis, Rectal prolapse, Gastroesophageal reflux, Microdontia, Hypogonadotropic hypo... |
ORPHA:904 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, High palate, Pancreatic aplasia |
ORPHA:556955 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Annular pancreas, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Jaundice, Prolonged neonatal jaundice |
OMIM:607625 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Cryptorchidism, Mac... |
OMIM:130650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Edema, Polyhydramnios, Hepatic fibrosis, Intrahepatic bile duct di... |
OMIM:619534 |
Osteosarcoma |
|
Joint swelling, Weight loss |
ORPHA:668 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Jaundice |
OMIM:616689 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Prolonged neonatal jaundice |
OMIM:185000 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Malabsorption, Splenomegaly, Pyloric stenosis, Tracheoesophageal fis... |
ORPHA:379 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Celiac disease, Lymphoma, Weight loss, Steatorrhea, Failure to thrive |
OMIM:212750 |
Fraser Syndrome 3 |
|
Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Small for gestational age, Splenomegaly, Abnormality of... |
ORPHA:84064 |
Glossopharyngeal Neuralgia |
|
Schwannoma, Neoplasm, Weight loss |
ORPHA:221098 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Intestinal fistula, Edema, Extrahepatic cholestasis, Weight loss, ... |
ORPHA:100078 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Cholest... |
OMIM:261515 |
Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Polycystic liver disease, Hepatic cysts, Pituitary growth hormone cell adenoma |
ORPHA:730 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity |
ORPHA:412 |
Gm1 Gangliosidosis |
|
Splenomegaly, Hydrops fetalis, Hepatosplenomegaly, Weight loss, Macroglossia, Failure to thrive |
ORPHA:354 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age |
OMIM:616026 |
Simple Cryoglobulinemia |
|
Viral hepatitis, B-cell lymphoma, Chronic lymphatic leukemia, Weight loss, Multiple myeloma, Mono... |
ORPHA:91139 |
Generalized Arterial Calcification Of Infancy |
|
Failure to thrive in infancy, Edema, Cardiomegaly, Polyhydramnios, Pericardial effusion, Hydrops ... |
ORPHA:51608 |
Malignant Atrophic Papulosis |
|
Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss, Pleural effusion |
ORPHA:679 |
Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoplasia of the thymus |
OMIM:603554 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Neoplasm of the skin |
ORPHA:53715 |
Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
Jacobsen Syndrome |
|
Cryptorchidism, Annular pancreas, Pyloric stenosis |
OMIM:147791 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:3208 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Dehydration, Weight loss, Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells |
ORPHA:99885 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipation, Aplasia/Hypoplasia of the... |
ORPHA:264450 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Esophageal stricture, Xerostomia, Weight loss, Pleural effusion, E... |
ORPHA:99921 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Annular pancreas, Esophageal atresia, Tracheoesophageal fistula |
OMIM:227646 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Cardiomegaly, Pericardial effusion, Right ventricular hy... |
ORPHA:555874 |
Rothmund-Thomson Syndrome, Type 2 |
|
Anteriorly placed anus, Cryptorchidism, Annular pancreas, High palate |
OMIM:268400 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Igg4-Related Kidney Disease |
|
Retroperitoneal fibrosis, Abnormal mesentery morphology, Abnormality of the anterior pituitary, S... |
ORPHA:449395 |
Distal Deletion 12Q |
|
Unilateral cryptorchidism, High, narrow palate, Pituitary adenoma, Esophageal atresia, Biliary at... |
ORPHA:96149 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag... |
OMIM:229850 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic fibrosis, Fa... |
OMIM:207900 |
Immunodeficiency 31C |
|
Hepatomegaly, Villous atrophy, Splenomegaly, Weight loss, Protein-losing enteropathy, Intussuscep... |
OMIM:614162 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Pancreatic And Cerebellar Agenesis |
|
Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Celiac disease, Pituitary adenoma, Adrenocorticotropic hormone deficiency, He... |
ORPHA:199299 |
Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Vomiting, Cleft palate |
ORPHA:97297 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Inflammation of the large intestine, Hepatocellular carcinoma... |
OMIM:232240 |
Dermatomyositis |
|
Edema, Gastrointestinal stroma tumor, Periorbital edema, Lymphoma, Breast carcinoma, Weight loss,... |
ORPHA:221 |
Jacobsen Syndrome |
|
Intestinal malrotation, Cryptorchidism, Pyloric stenosis, Abnormality of the anus, Ectopic anus, ... |
ORPHA:2308 |
Yao Syndrome |
|
Xerostomia, Weight loss |
OMIM:617321 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cryptorchidism, Furrowed tongue, High palate, Gastroesophageal reflux, Annular pancreas, Duodenal... |
OMIM:616975 |
Castleman Disease |
|
Intestinal obstruction, Abdominal mass, Jaundice, Weight loss, Anasarca |
ORPHA:160 |
Marfan Syndrome |
|
High, narrow palate, Cachexia, Slender build, Cleft palate |
ORPHA:558 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis |
OMIM:207800 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Edema, Weight loss |
ORPHA:324964 |
Blau Syndrome |
|
Splenomegaly, Abnormal salivary gland morphology, Abnormality of the liver, Xerostomia |
ORPHA:90340 |
Eisenmenger Syndrome |
|
Hepatomegaly, Pedal edema, Abnormality of the liver, Peripheral edema, Ascites, Generalized edema |
ORPHA:97214 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Weight loss, Squamous cell carcinoma of the skin, Malabsorption |
ORPHA:79430 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia |
ORPHA:424 |
Stickler Syndrome |
|
Slender build, Cachexia, Cleft palate, Macroglossia, Glossoptosis, Short hard palate |
ORPHA:828 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Edema, Pericardial effusion, Splenomegaly, Hepatitis, Weight lo... |
OMIM:615846 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Pleural effusion, Weight loss |
ORPHA:2902 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Malabsorption, Intestinal perforation, Trac... |
ORPHA:537 |
Norrie Disease |
|
Cachexia, Cryptorchidism, Neoplasm of the eye, Failure to thrive, Vascular neoplasm |
ORPHA:649 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Coronal hypospadias, X... |
OMIM:149730 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Aplasia of the sweat glands |
OMIM:612132 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Familial Glucocorticoid Deficiency |
|
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive |
ORPHA:361 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Co... |
OMIM:265380 |
Rheumatoid Arthritis |
|
Joint swelling, Weight loss |
OMIM:180300 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Elevated hepatic transaminase, Esophageal stricture, Weight loss, Pancreat... |
ORPHA:36426 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Weight loss |
ORPHA:449400 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Cryptorchidism, Pyloric stenosis, Hypothyroidism, Abnormality of the l... |
ORPHA:1606 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pancreatitis, Parotitis, Weight loss |
ORPHA:31205 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Atresia Of Urethra |
|
Ascites, Oligohydramnios |
ORPHA:105 |
Familial Gestational Hyperthyroidism |
|
Goiter, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Intestinal malrotation, Duodena... |
OMIM:135900 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, High palate, Obesity, Weight loss |
ORPHA:251071 |
Acrodermatitis Enteropathica |
|
Malabsorption, Weight loss, Furrowed tongue, Failure to thrive, Glossitis |
ORPHA:37 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Aganglionic megacolon, Central hypothyroidism, Anteriorly placed anus, Macroglossia... |
ORPHA:798 |
Brucellosis |
|
Hepatomegaly, Liver abscess, Small for gestational age, Hypersplenism, Splenomegaly, Orchitis, We... |
ORPHA:1304 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Myelodysplasia, Aplasia/Hypoplasia of the uvula, Cryp... |
ORPHA:84 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Joint swelling, Weight loss, Hepatosplenomegaly |
ORPHA:85408 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Joint swelling, Pleural effusion, Weight loss |
ORPHA:35687 |
Giant Cell Arteritis |
|
Hepatic failure, Glossitis, Weight loss |
ORPHA:397 |
Holocarboxylase Synthetase Deficiency |
|
Weight loss |
ORPHA:79242 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Multiple Myeloma |
|
Splenomegaly, Pleural effusion, Weight loss |
ORPHA:29073 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Malt Lymphoma |
|
B-cell lymphoma, Weight loss |
ORPHA:52417 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, B-cell lymphoma, Gastritis, Splenomegaly, Hepatitis, Weight loss... |
OMIM:619381 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Peripheral edema, Abnormality of the hepatic vasculature, Pleural eff... |
ORPHA:1677 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Glossitis, Weight loss |
ORPHA:35858 |
Mucolipidosis Type Ii |
|
Splenomegaly, Weight loss, Hepatosplenomegaly, Left ventricular hypertrophy, Oligohydramnios |
ORPHA:576 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Weight loss, Malabsorption |
ORPHA:183 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Addison Disease |
|
Hypoparathyroidism, Primary testicular failure, Celiac disease, Thymoma, Weight loss, Failure to ... |
ORPHA:85138 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Peripheral edema, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Behçet Disease |
|
Malabsorption, Orchitis, Splenomegaly, Weight loss, Pleural effusion, Pancreatitis |
ORPHA:117 |
Nocardiosis |
|
Pleural effusion, Peritonitis, Liver abscess, Weight loss |
ORPHA:31204 |
Tsh-Secreting Pituitary Adenoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pericardial effusion... |
ORPHA:91347 |
Igg4-Related Retroperitoneal Fibrosis |
|
Hydrocele testis, Pedal edema, Weight loss |
ORPHA:49041 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Granulomatosis With Polyangiitis |
|
Periorbital edema, Intestinal obstruction, Pancreatitis, Weight loss |
ORPHA:900 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Perianal abscess, Weight loss, Inflammation of the large intestine, Colitis, A... |
OMIM:301074 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Intestinal pseudo-obstruction, Weight loss |
OMIM:607459 |
Reactive Arthritis |
|
Joint swelling, Inflammation of the large intestine, Weight loss |
ORPHA:29207 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, High palate, Polyhydramnios, Weight loss |
ORPHA:2020 |
Juvenile Dermatomyositis |
|
Palpebral edema, Weight loss |
ORPHA:93672 |
Postinfectious Vasculitis |
|
Orchitis, Viral hepatitis, Weight loss |
ORPHA:48435 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Protruding tongue, S... |
ORPHA:2388 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Dehydration, Weight loss, Failure to thrive, Decreased testicular ... |
ORPHA:90794 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
African Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormal prolactin level, Weight loss |
ORPHA:3385 |
Acute Adrenal Insufficiency |
|
Failure to thrive, Weight loss |
ORPHA:95409 |
Oculopharyngodistal Myopathy 1 |
|
High palate, Weight loss |
OMIM:164310 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Riddle Syndrome |
|
Weight loss |
ORPHA:420741 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration, Weight loss |
ORPHA:3337 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, High palate, Ankyloglossia, Weight loss |
ORPHA:740 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Weight loss, Cystoid macular edema, Macular edema |
ORPHA:91500 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |