Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large in... |
OMIM:615767 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption |
ORPHA:79301 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Idiopathic Achalasia |
|
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia |
ORPHA:930 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage |
OMIM:106070 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis |
OMIM:617006 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... |
OMIM:617638 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... |
OMIM:620045 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... |
ORPHA:79319 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Hepatitis, Decreased circulating antibody leve... |
OMIM:300635 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Weight loss, Decreased circulating antibody level, Chronic ot... |
ORPHA:33355 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... |
ORPHA:141152 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large... |
OMIM:619281 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Congenital Factor Xiii Deficiency |
|
Epistaxis, Cerebral hemorrhage, Joint hemorrhage, Prolonged bleeding after surgery, Hepatic failu... |
ORPHA:331 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine, Epistaxis |
ORPHA:46488 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar... |
ORPHA:2070 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... |
OMIM:618394 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Malabsorption, Weight loss, Arthritis, Infectious encephalitis |
ORPHA:42642 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Intestinal bleeding, Gastrointestinal infarctions, Volvulus |
ORPHA:1059 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... |
ORPHA:343 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Hypertensive crisis, Pneumonia, Nausea, Abdomi... |
ORPHA:544482 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, Recurrent pneumonia |
OMIM:619164 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secreto... |
OMIM:616050 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... |
ORPHA:2137 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... |
ORPHA:85450 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... |
ORPHA:99745 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Portal hypertensio... |
ORPHA:98850 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Adrenocorticotropic hormone excess, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... |
ORPHA:99828 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Eczema, Abnormal immunoglobulin level, Feeding difficulties in i... |
ORPHA:98813 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis, Decreased circulating antibody level |
OMIM:615190 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Sterile arthritis, Arthritis, Colitis, Cystic acne |
OMIM:604416 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Abdominal pain, ... |
OMIM:301074 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Recurrent sinusitis, Decreased circulating antibody level |
OMIM:613101 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Re... |
ORPHA:79076 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me... |
ORPHA:99147 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... |
OMIM:614878 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Pulmonary Blastoma |
|
Recurrent pneumonia, Weight loss |
ORPHA:64741 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... |
OMIM:142680 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... |
ORPHA:440437 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... |
ORPHA:464321 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Increased circulating interleukin 8 concentration, Chronic diarrhea... |
OMIM:301220 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction, Cachexia, Malabsorpti... |
ORPHA:3452 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Hyperparathyroidism, Duodenal ulcer, Peptic ... |
ORPHA:913 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Sinusitis, Episcleritis, Epistaxi... |
ORPHA:727 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio... |
ORPHA:436159 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Petechiae, Maculopapular exanthema, Skin rash,... |
ORPHA:540 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Decreased circulating IgG level, Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum... |
OMIM:614700 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... |
ORPHA:97278 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Purpura, Pericarditis, Me... |
ORPHA:91139 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi... |
ORPHA:774 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... |
ORPHA:85443 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... |
ORPHA:47 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D... |
ORPHA:67 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... |
ORPHA:298 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Gastrointest... |
ORPHA:91138 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... |
ORPHA:97261 |
Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Acholic st... |
ORPHA:1414 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Psoriasiform derma... |
ORPHA:37042 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Vasculitis, Weight loss, ... |
ORPHA:324964 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur... |
ORPHA:33226 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97283 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, V... |
ORPHA:810 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abd... |
ORPHA:83469 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Nausea and ... |
ORPHA:97280 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... |
OMIM:618999 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception |
OMIM:112200 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Myositis, Gastritis, Skin ras... |
ORPHA:809 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension, Eryth... |
ORPHA:79456 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Sepsis In Premature Infants |
|
Abnormal bleeding, Increased circulating interleukin 6 concentration, Tachycardia, Small for gest... |
ORPHA:90051 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... |
ORPHA:449400 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating... |
OMIM:619802 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Increased circulating IgA level, Vasculitis, Increased circulating I... |
OMIM:603909 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Vasculitis, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... |
OMIM:617718 |
Pleural Mesothelioma |
|
Weight loss, Abnormal cardiovascular system physiology, Dysphagia |
ORPHA:50251 |
Behçet Disease |
|
Myositis, Myocardial infarction, Anorexia, Pulmonary embolism, Infectious encephalitis, Acne, Abd... |
ORPHA:117 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver, Hypertens... |
ORPHA:69077 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S... |
ORPHA:36426 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Tricuspid regurgitation, Anorexia, Poor appetite, Hematemesis, Bowel urgency... |
ORPHA:100075 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux... |
ORPHA:183 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... |
ORPHA:2796 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste... |
ORPHA:363705 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai... |
ORPHA:79430 |
Refractory Celiac Disease |
|
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... |
ORPHA:398063 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... |
ORPHA:100078 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Oral leukoplakia, Petechiae |
OMIM:620133 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain... |
OMIM:619381 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an... |
ORPHA:900 |
Takayasu Arteritis |
|
Increased inflammatory response, Anorexia, Myocardial infarction, Vasculitis, Weight loss, Hypert... |
ORPHA:3287 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Increased hepatitis B virus antibody level, Abdominal distention, Weight loss, Ne... |
ORPHA:90003 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorptio... |
OMIM:214950 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Syno... |
ORPHA:77297 |
Insulin Autoimmune Syndrome |
|
Arthralgia/arthritis, Increased circulating antibody level, Weight loss |
ORPHA:411593 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi... |
ORPHA:974 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia |
ORPHA:85447 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Pericarditis, Abdominal pain, Raynaud phenomenon, Weig... |
ORPHA:767 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... |
ORPHA:90363 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Bowel incontinence, Myocardial infarction, Congestive heart failure, Gastrointestin... |
ORPHA:330001 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
Yao Syndrome |
|
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Macroglossia, Glossitis |
ORPHA:2221 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Chronic diarrhea, Decreased specific anti-polysaccharide antibody level, Esoph... |
OMIM:614576 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... |
ORPHA:309031 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... |
ORPHA:37 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Feeding difficulties, Weight loss |
ORPHA:79238 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Weight loss, Dysphagia, Nodular goiter, Goiter |
ORPHA:142 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Dia... |
ORPHA:90038 |
Spinocerebellar Ataxia 48 |
|
Cachexia, Dysphagia |
OMIM:618093 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, A... |
ORPHA:758 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... |
ORPHA:90068 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Decreased circulating antibody level, Weight lo... |
ORPHA:99867 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... |
OMIM:175200 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Keratitis, Weight loss, Abn... |
ORPHA:1018 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Anorexia, Abdominal pa... |
ORPHA:761 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Paralytic ileus, Melena, Pro... |
OMIM:276700 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Sudden cardiac death, Reduced left ventricular ejection fraction, Gast... |
OMIM:201475 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Weight loss,... |
OMIM:212750 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Increased circulatin... |
OMIM:209950 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Congestive heart failure, Lymphadenitis, Chronic diarrhea, Dilated cardio... |
OMIM:615895 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Diarrhea... |
ORPHA:391487 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation, Menorrhagia |
ORPHA:168816 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Dysphagia, Nodular goiter |
ORPHA:1332 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... |
ORPHA:247691 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Inflammation of the large intestine, Prolonged bleeding time, Chronic di... |
OMIM:301000 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Skin rash, Weight loss |
ORPHA:33276 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss... |
ORPHA:29207 |
Nephroblastoma |
|
Neoplasm of the liver, Abdominal pain, Hypertension, Weight loss |
ORPHA:654 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Hypoplasia of the thymus... |
ORPHA:906 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatic failure, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, B... |
OMIM:613812 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Increased... |
ORPHA:160 |
X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Tachycardia, ... |
ORPHA:542323 |
Immunodeficiency 31C |
|
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... |
OMIM:614162 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:145981 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Jaw claudication, Weight loss, Feeding diff... |
ORPHA:221098 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Multicentric Reticulohistiocytosis |
|
Arthritis, Cachexia |
ORPHA:139436 |
Riboflavin Transporter Deficiency |
|
Hypertension, Cachexia, Dysphagia |
ORPHA:97229 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Epistaxis, Gout, Thyroiditis, Diarrhea, Prolonged bleeding following procedure... |
ORPHA:79259 |
Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Col... |
ORPHA:84064 |
Non-Functioning Paraganglioma |
|
Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic abdominal pain, Weight... |
ORPHA:94080 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Increased circulating IgE level, Atopic dermatitis, We... |
ORPHA:2902 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Atopic der... |
ORPHA:171876 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Abnormal blee... |
ORPHA:3261 |
Acute Myelomonocytic Leukemia |
|
Abnormal bleeding, Weight loss |
ORPHA:517 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Vipoma |
|
Neoplasm of the pancreas, Nausea and vomiting, Elevated circulating growth hormone concentration,... |
ORPHA:97282 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Neoplasm of the gallbladder, Adenocarcinoma of... |
ORPHA:171 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Cachexia, Feeding difficulties |
ORPHA:157973 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celia... |
ORPHA:199299 |
Fatal Familial Insomnia |
|
Weight loss, Constipation, Dysphagia |
OMIM:600072 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Skin rash, Weight loss |
ORPHA:317 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i... |
ORPHA:143 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Syncope, Hypotension, Nausea |
ORPHA:98849 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... |
ORPHA:565 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Aspiration pneumonia, Dysphagia |
ORPHA:216866 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Weight loss |
ORPHA:100024 |
Renpenning Syndrome |
|
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... |
ORPHA:340 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the th... |
ORPHA:567 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... |
ORPHA:652 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar hemorrhage, Weight loss,... |
ORPHA:520 |
Huntington Disease |
|
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia |
ORPHA:399 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Plague |
|
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... |
ORPHA:707 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Vomiting, Weight loss |
OMIM:143880 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel... |
OMIM:613471 |
Allergic Bronchopulmonary Aspergillosis |
|
Pulmonary arterial hypertension, Bronchiectasis, Weight loss |
ORPHA:1164 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... |
ORPHA:70591 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Esophagitis, Par... |
OMIM:619652 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive in infancy, Poor appetite, Diar... |
ORPHA:247598 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Loeffler Endocarditis |
|
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... |
ORPHA:75566 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve... |
ORPHA:99827 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Diarrhea, Lympha... |
ORPHA:31205 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Imerslund-Gräsbeck Syndrome |
|
Abnormal bleeding, Tachycardia, Angular cheilitis, Poor appetite, Weight loss, Constipation, Vomi... |
ORPHA:35858 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Biliary hyperpla... |
ORPHA:567983 |
Postinfectious Vasculitis |
|
Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit... |
ORPHA:48435 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Anorexia, Poor appetite, Elevated circulating growth hormone ... |
ORPHA:97287 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... |
ORPHA:2552 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Diarrhea, Vasculitis, Hepatiti... |
OMIM:615846 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... |
ORPHA:275761 |
Leishmaniasis |
|
Abnormal bleeding, Anorexia, Weight loss, Rhinitis, Increased circulating antibody level |
ORPHA:507 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Weight loss, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:1842 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Peptic ulcer, Pituitary null cell adenoma, Pituitary corticotropic cell aden... |
ORPHA:276152 |
Caroli Disease |
|
Cholangiocarcinoma, Cholangitis, Anorexia, Portal hypertension, Abdominal pain, Esophageal varix,... |
ORPHA:53035 |
Gaisböck Syndrome |
|
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Hypovolemia, Obesity, Gout, Ele... |
ORPHA:90041 |
Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Weight loss, E... |
ORPHA:100085 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Cachexia, High palate, Narrow palate |
OMIM:618186 |
Rett Syndrome |
|
Cachexia, Constipation, Gastroesophageal reflux, Abnormal T-wave, Prolonged QTc interval |
OMIM:312750 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Retinal hemorrhage, Uveitis, Hepatitis, Mele... |
ORPHA:319251 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Poor appetite, Weight loss |
ORPHA:312 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Portal hypertension, Abdominal pain, Congestive heart failure, Weight loss, C... |
ORPHA:465508 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Prolonged bleeding time, Weight loss, Intracranial hemorrhage, Chronic otiti... |
ORPHA:3226 |
Klatskin Tumor |
|
Cholangiocarcinoma, Abdominal pain, Weight loss |
ORPHA:99978 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea |
OMIM:229600 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Cho... |
ORPHA:100086 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Feeding difficulties in infan... |
ORPHA:3208 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Brucellosis |
|
Anorexia, Knee osteoarthritis, Increased circulating IgG level, Vomiting, Infectious encephalitis... |
ORPHA:1304 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Dilate... |
OMIM:619573 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Pancreatitis, Primary hyperparathyroidism, Peptic ulcer |
OMIM:600740 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Shortened QT i... |
ORPHA:99880 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Anorexia, Abdominal pain, Vasculitis, Weight loss,... |
ORPHA:397 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Hypotension, Arrhythmia, Pancre... |
ORPHA:188 |
Plasminogen Deficiency, Type I |
|
Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis |
OMIM:217090 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Weight loss, Goiter |
OMIM:275000 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Weight loss, Palpitations, Goiter |
OMIM:188580 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Weight loss, Arthriti... |
OMIM:181000 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Intracrani... |
ORPHA:90062 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Gout, Hypertension, Inflammation of the large intestine, Protuberant abdomen... |
OMIM:232220 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding d... |
OMIM:618183 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdomina... |
ORPHA:361 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Nausea, Malnutrition, Weight loss, Chronic calcifying pancreatitis, Vo... |
ORPHA:103918 |
Classic Hodgkin Lymphoma |
|
Poor appetite, Skin rash, Anorexia, Weight loss |
ORPHA:391 |
Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, ... |
ORPHA:276621 |
Wilson Disease |
|
Acute hepatic failure, Increased body weight, Hepatitis, Weight loss, Arthritis, Acute hepatitis,... |
ORPHA:905 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
Gm1 Gangliosidosis |
|
Congestive heart failure, Weight loss, Feeding difficulties, Macroglossia, Cardiomyopathy, Gastro... |
ORPHA:354 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Cholangitis, Portal hypertension, Abdominal pain, Hemateme... |
ORPHA:480520 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,... |
ORPHA:99818 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Pancreatic cysts, Esophageal varix, Hypertension |
OMIM:263200 |
Perry Syndrome |
|
Hypotension, Weight loss |
ORPHA:178509 |
Yellow Fever |
|
Abnormal bleeding, Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, ... |
ORPHA:99829 |
Idiopathic Bronchiectasis |
|
Acute infectious pneumonia, Myocardial infarction, Bronchiectasis, Cachexia |
ORPHA:60033 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... |
OMIM:225400 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Perioral eczema |
ORPHA:79242 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Angina pectoris, Cachexia, Abnormal large intestine morphology, Narrow pala... |
ORPHA:109 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, High palate, Hepatic failure, Failure to thrive, Mitochondrial swelling |
OMIM:606812 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Gastric ulcer, Decreased circulating antibody level |
OMIM:604928 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis, Weight loss |
ORPHA:411703 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Cardiac arrest, Pustule, Myocarditis, Hepatitis, Thyroiditis, W... |
ORPHA:139402 |
Glycogen Storage Disease Ic |
|
Stomatitis, Spider hemangioma, Chronic pancreatitis, Gout, Hypertension, Inflammation of the larg... |
OMIM:232240 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Arthritis, Weight loss |
ORPHA:3165 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Diarrhea, Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficulties, Constipati... |
ORPHA:813 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss |
ORPHA:703 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala... |
ORPHA:261584 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia |
ORPHA:42 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Re... |
ORPHA:420741 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Abdo... |
OMIM:301068 |
Felty Syndrome |
|
Episcleritis, Pericarditis, Sinusitis, Recurrent pneumonia, Synovitis, Weight loss, Arthritis, Rh... |
ORPHA:47612 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tachycardia, Weight loss, Goiter |
OMIM:613239 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting, Pancreatic calcification |
ORPHA:677 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss |
ORPHA:704 |
Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Abnormal heart rate variabil... |
ORPHA:206436 |
Addison Disease |
|
Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Primary testicular failure, Ano... |
ORPHA:85138 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Cholelithiasis, Giant cell hepatitis |
ORPHA:79095 |
Pneumocystosis |
|
Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Increased circulating antibody... |
ORPHA:723 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive |
OMIM:256700 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... |
OMIM:617137 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:538 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Skin rash, Abnormality of body weight, Pneumonia, Increased circulating IgA lev... |
ORPHA:2298 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Abnormal bleeding, Nausea and vomiting, Anorexia, Abdominal distention,... |
ORPHA:370348 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Sinus tachycardia, Cerebral hemorrhage, Congestive heart failure, ... |
ORPHA:29072 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Abdominal pain, Weight loss, Panniculitis, Inflammatory abnormality of the eye |
ORPHA:33577 |
Multiple Myeloma |
|
Increased circulating IgA level, Functional abnormality of the gastrointestinal tract, Decreased ... |
ORPHA:29073 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Dilated cardiomyopathy, Weight loss, Mitral regurgi... |
OMIM:607459 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Anorexia, Myocarditis, Vasculiti... |
ORPHA:781 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Hereditary Late-Onset Parkinson Disease |
|
Chronic constipation, Weight loss, Orthostatic hypotension due to autonomic dysfunction, Dysphagia |
ORPHA:411602 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Xerostomia, Enlarged... |
ORPHA:79078 |
Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Retinal hemorrhage, Localized pu... |
OMIM:608710 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy |
ORPHA:261311 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, A... |
ORPHA:49041 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjunctivitis sicca, P... |
ORPHA:79128 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Arteriosclerosis, Severe Juvenile |
|
Hypertension, Gastric ulcer, Myocardial infarction |
OMIM:208060 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea... |
ORPHA:99921 |
Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Recurre... |
ORPHA:252183 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Small for gestational age, Feeding diff... |
ORPHA:508488 |
Primary Myelofibrosis |
|
Abnormal bleeding, Portal hypertension, Cachexia, Anorexia, Ecchymosis, Petechiae, Purpura |
ORPHA:824 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Weight loss |
ORPHA:133 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, Obesity, Weight loss, High palate, Hypertrophic cardiomyopathy |
ORPHA:251071 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Pancreatitis, Peptic ulcer, Episodic abdominal pain |
ORPHA:405 |
Rheumatoid Arthritis |
|
Vasculitis, Rheumatoid arthritis, Weight loss |
OMIM:180300 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy, Bowel incontinence |
ORPHA:702 |
Alveolar Echinococcosis |
|
Cholangitis, Portal hypertension, Abdominal pain, Pancreatic cysts, Weight loss, Increased circul... |
ORPHA:284 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Weight loss, Thyroid hyperplasia |
ORPHA:99819 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormality of the testis size, Weight loss, Ovarian cyst, Membranous nephropa... |
ORPHA:400 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Failure to thrive |
ORPHA:217346 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Retinal telangiectasia |
OMIM:612199 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Abnormality of the ovary, Periodontitis |
ORPHA:722 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Pituitary null cell adenoma, Pituitary adenoma, Primary hyperparat... |
ORPHA:97289 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Aicardi-Goutieres Syndrome 9 |
|
Pericarditis, Acute pancreatitis, Chilblains, Portal hypertension, Weight loss, Feeding difficult... |
OMIM:619487 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension |
ORPHA:134 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Increased circulating IgG level, Tubulointerstitial nephritis, Cholecystitis, Sial... |
ORPHA:449395 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated card... |
ORPHA:20 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Bronchiectasis, Weight loss |
ORPHA:79127 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Weight loss |
OMIM:605543 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Orthostatic hypotension, Myocardial infarction, Anorexia, Abdominal pain, Di... |
ORPHA:95409 |
Adrenocortical Carcinoma |
|
Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Hyper... |
ORPHA:1501 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurr... |
OMIM:619575 |
Oculopharyngodistal Myopathy 1 |
|
Paroxysmal atrial fibrillation, Dilated cardiomyopathy, Weight loss, High palate, Dysphagia, Hype... |
OMIM:164310 |
Pyomyositis |
|
Recurrent cutaneous abscess formation, Myositis, Sudden cardiac death, Weight loss, Testicular te... |
ORPHA:764 |
Dermatomyositis |
|
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Gastrointestinal stroma tumor, F... |
ORPHA:221 |
Diffuse Alveolar Hemorrhage |
|
Pulmonary venous hypertension, Weight loss |
ORPHA:90060 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Abdominal pain, Weight loss, Syncope, Nausea |
ORPHA:71273 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Recurrent pneumonia, Cleft palate, ... |
ORPHA:647 |
Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Failure to thrive in infancy, Myocardial infarction, Hashimoto thyroiditis... |
ORPHA:99226 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight |
OMIM:605822 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
Familial Thrombocytosis |
|
Abnormal bleeding, Transient ischemic attack, Weight loss, Syncope, Cerebral ischemia, Pulmonary ... |
ORPHA:71493 |
X-Linked Intellectual Disability, Cabezas Type |
|
High palate, Decreased testicular size, Cachexia, Obesity |
ORPHA:85293 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... |
ORPHA:2020 |
Trisomy 18 |
|
Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Anal atresia |
ORPHA:3380 |
Fanconi Anemia |
|
Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Tracheoesophageal fistula... |
ORPHA:84 |
Williams Syndrome |
|
Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Sudden car... |
ORPHA:904 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Increased circulating antibody level, Increased circulating prol... |
ORPHA:2905 |
Short Syndrome |
|
Poor appetite, Weight loss |
ORPHA:3163 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... |
ORPHA:99889 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Malt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Weight loss, Constipation, Posterior uveitis |
ORPHA:52417 |
Nocardiosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lymphadenitis, Peritonitis, Thyroidi... |
ORPHA:31204 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Cachexia, Esophageal varix, Feeding difficulties, Azoospermia, ... |
ORPHA:2072 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Enlarged pituitary gland, Ventricular arrhythmia, Elevated circulating growt... |
ORPHA:91347 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Shortened PR interval, Obesity, Weight loss, Impaired myocardial contracti... |
ORPHA:79102 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Anorexia, Pustule, Myocarditis, Vasculitis,... |
ORPHA:50918 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Enthesitis, Uveitis, Weight loss, ... |
ORPHA:85408 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Abnormal atrioventricular valve physiology, Weight loss, Cardiomyopathy, Mi... |
ORPHA:576 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Abnormal cardiac ventricular function, Maculopapular e... |
ORPHA:797 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Congestive heart failure, Weight loss |
ORPHA:35687 |
Mowat-Wilson Syndrome |
|
Dependency on intravenous nutrition, Aganglionic megacolon, Bowel incontinence, Cleft hard palate... |
ORPHA:2152 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Mitral stenosis, Angina pectoris, Left ventricular systolic dysfunction, My... |
ORPHA:740 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pain, Intermediate uve... |
ORPHA:91500 |
Schwartz-Jampel Syndrome |
|
Cachexia, Feeding difficulties in infancy, Cleft palate, Pulmonary arterial hypertension, High pa... |
ORPHA:800 |
Stickler Syndrome |
|
Slender build, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Cleft palate, Uveitis, ... |
ORPHA:828 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... |
OMIM:219800 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Pancreatic hypoplasia, Hypovolemia, Weight loss |
ORPHA:99885 |
Xfe Progeroid Syndrome |
|
Hypertension, Failure to thrive, Cachexia |
OMIM:610965 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Diarrhea, Congestive heart failure, Weight lo... |
ORPHA:3385 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Acne, Hypovolemia, Testicular adrenal rest tumor, Weight loss, Feeding difficulties, Vomit... |
ORPHA:90794 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Weight loss |
OMIM:613673 |
Pulmonary Alveolar Microlithiasis |
|
Right ventricular failure, Increased pulmonary vascular resistance, Bronchiectasis, Weight loss, ... |
ORPHA:60025 |
Coffin-Siris Syndrome 1 |
|
Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Cleft pa... |
OMIM:135900 |
Cockayne Syndrome |
|
Cachexia, Feeding difficulties in infancy, Cryptorchidism, Retinal hemorrhage, Hypertension, Kera... |
ORPHA:191 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Cachexia |
ORPHA:220295 |
Marfan Syndrome |
|
Arthralgia/arthritis, Cachexia, High, narrow palate, Congestive heart failure, Cleft palate, Slen... |
ORPHA:558 |
Choreoacanthocytosis |
|
Protruding tongue, Dilated cardiomyopathy, Weight loss, Arthritis, Dysphagia |
ORPHA:2388 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Camurati-Engelmann Disease |
|
Cachexia, Anorexia, Feeding difficulties in infancy, Hypertrophic cardiomyopathy, Slender build |
ORPHA:1328 |
Goodpasture Syndrome |
|
Glomerulonephritis, Pulmonary hemorrhage, Weight loss |
OMIM:233450 |
Proteus Syndrome |
|
Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Sudden cardiac de... |
ORPHA:744 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |