Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea |
OMIM:619398 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chr... |
ORPHA:209964 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... |
ORPHA:160148 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Abdominal pain, Malab... |
ORPHA:2070 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... |
OMIM:300635 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... |
OMIM:615767 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... |
OMIM:617006 |
Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... |
OMIM:243150 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total Ig... |
OMIM:619281 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... |
ORPHA:251992 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, N... |
ORPHA:2869 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy |
ORPHA:103910 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Refractory anemia, Cachexia, Abdominal pain, High... |
ORPHA:79076 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... |
OMIM:619164 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm |
ORPHA:46488 |
Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Decreased circu... |
OMIM:613101 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute ... |
ORPHA:90038 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... |
OMIM:301000 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... |
OMIM:616050 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Hemangioma |
OMIM:106070 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Immunodeficiency 70 |
|
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... |
OMIM:175500 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Abnormality of mitochondrial meta... |
ORPHA:33355 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... |
OMIM:616098 |
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 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... |
OMIM:617638 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased serum ir... |
ORPHA:98870 |
Immunodeficiency 57 With Autoinflammation |
|
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... |
ORPHA:464321 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... |
OMIM:618394 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... |
ORPHA:99147 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis |
ORPHA:88643 |
Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... |
ORPHA:853 |
Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... |
ORPHA:26790 |
Congenital Factor Xiii Deficiency |
|
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... |
ORPHA:331 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... |
OMIM:604416 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hema... |
OMIM:617718 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption |
ORPHA:79301 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:540 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... |
OMIM:608971 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... |
ORPHA:100079 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... |
ORPHA:340 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increa... |
ORPHA:98813 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Diarrhea, Hyperlipidemia, Vomiting, Hypoalbuminemia, Protein-lo... |
OMIM:615863 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... |
OMIM:175200 |
Paroxysmal Extreme Pain Disorder |
|
Constipation |
ORPHA:46348 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... |
ORPHA:436159 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... |
OMIM:112200 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... |
OMIM:229050 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... |
ORPHA:99827 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hypertriglyceridemia, Splenomegaly, Diarrhea, Esophageal varix, Hypercholest... |
ORPHA:75234 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Blo... |
OMIM:614602 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... |
OMIM:606528 |
Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abdominal... |
ORPHA:480520 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... |
OMIM:175100 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... |
OMIM:616433 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
Diarrhea 9 |
|
Diarrhea |
OMIM:618168 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... |
ORPHA:911 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Skin rash, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleed... |
ORPHA:1059 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Congestive heart failure, Di... |
ORPHA:67 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,... |
ORPHA:99818 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro... |
ORPHA:37042 |
Rift Valley Fever |
|
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Uveiti... |
ORPHA:319251 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Failure to thrive, Elevated... |
OMIM:276700 |
Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... |
OMIM:306900 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... |
ORPHA:810 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Fat malabsorption, Hepatic failure |
OMIM:214950 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... |
ORPHA:229717 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Dilated card... |
OMIM:615895 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... |
ORPHA:79319 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... |
OMIM:616100 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... |
ORPHA:3243 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, Stea... |
OMIM:613812 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... |
OMIM:158310 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... |
OMIM:614878 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Esophageal stenosis, Decreased circulating antibody level |
OMIM:615190 |
Coproporphyria, Hereditary |
|
Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:coproporphyrin ... |
OMIM:121300 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... |
ORPHA:440437 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglycer... |
OMIM:278000 |
Chylomicron Retention Disease |
|
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... |
OMIM:246700 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma... |
ORPHA:144 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... |
OMIM:616809 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Protein-losing en... |
OMIM:619063 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... |
ORPHA:652 |
Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, Vomiting, Hypo... |
ORPHA:71 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... |
ORPHA:544482 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils |
ORPHA:111 |
Immunodeficiency 85 And Autoimmunity |
|
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... |
OMIM:619510 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... |
OMIM:301220 |
Immunodeficiency 48 |
|
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid dermatitis, Failur... |
OMIM:269840 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye... |
ORPHA:48104 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... |
ORPHA:99745 |
Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... |
ORPHA:169805 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea, Decreased ci... |
OMIM:226300 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu... |
ORPHA:343 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... |
ORPHA:2137 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... |
ORPHA:424016 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... |
OMIM:613217 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... |
ORPHA:2686 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Failure to thrive, Hypertriglyceridemia, Vomiting |
OMIM:614480 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... |
ORPHA:99828 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... |
ORPHA:33110 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... |
ORPHA:98850 |
Dubowitz Syndrome |
|
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... |
ORPHA:235 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... |
ORPHA:324964 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... |
OMIM:618935 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... |
ORPHA:391487 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Pancytopenia, Petechiae, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B... |
OMIM:620133 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Splenomegaly, ... |
ORPHA:2930 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... |
OMIM:613501 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly... |
OMIM:614576 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
Cystic Fibrosis |
|
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Bronchiectasis, Recurrent pneumonia, Hepatosple... |
OMIM:219700 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... |
OMIM:142680 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... |
OMIM:618378 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Increased circulating ferritin concentration, Diarrhea, Splenomegaly, Le... |
OMIM:618963 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... |
ORPHA:158061 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Weigh... |
OMIM:209950 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy |
OMIM:619175 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Abdo... |
ORPHA:398063 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... |
OMIM:619858 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis... |
OMIM:615846 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, I... |
OMIM:242860 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... |
OMIM:106300 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... |
OMIM:601457 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Splenomegaly, Decrea... |
OMIM:615947 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... |
ORPHA:727 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... |
ORPHA:85450 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... |
ORPHA:572 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... |
ORPHA:47 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina... |
ORPHA:774 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatinine concentration, Pa... |
OMIM:608104 |
Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
Thymoma |
|
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... |
ORPHA:99867 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Diarrhea, Recurr... |
ORPHA:277 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent cir... |
OMIM:620282 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... |
ORPHA:3260 |
Erythrocytosis, Familial, 1 |
|
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... |
ORPHA:247598 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia |
OMIM:618999 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem... |
OMIM:618183 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, High palate |
OMIM:618010 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia, Giant cell hepatitis |
ORPHA:79095 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia |
ORPHA:101009 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Cryptorchidism, Rectal prolapse, Narrow palate, Hypoalbuminemia, Protein-losing enteropathy, Inte... |
OMIM:235510 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Multiple l... |
ORPHA:1414 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi... |
ORPHA:732 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage |
OMIM:605735 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor... |
ORPHA:79259 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... |
OMIM:619705 |
Syndromic Diarrhea |
|
Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Hepatoblastoma, Small for gestatio... |
ORPHA:84064 |
Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... |
OMIM:615607 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Cryptorchidism, Obesity, Cleft palat... |
OMIM:616222 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thrombocytopenia, ... |
OMIM:603552 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology, Dysphagia |
ORPHA:99013 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Increased circu... |
OMIM:615285 |
Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdominal pain, Hypovolem... |
ORPHA:275761 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Abdominal pain, Leukocytosis, Increase... |
ORPHA:98849 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... |
OMIM:613327 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Pneumonia, Anorexia, Eosinophilia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythro... |
ORPHA:169160 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... |
OMIM:304790 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Keratoconjun... |
ORPHA:91138 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... |
ORPHA:97278 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... |
OMIM:612692 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... |
ORPHA:3452 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... |
ORPHA:555905 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, ... |
ORPHA:90362 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Gout, Increased LDL cholestero... |
OMIM:610947 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, G... |
OMIM:613177 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... |
ORPHA:90045 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... |
ORPHA:79456 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... |
OMIM:300400 |
Cystic Fibrosis |
|
Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Gastroesophageal reflu... |
ORPHA:586 |
Immunodeficiency 15B |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic ... |
OMIM:615592 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
Bleeding Disorder, Platelet-Type, 17 |
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Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudden cardiac dea... |
OMIM:201475 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Portal hypertension, Malabsorption |
ORPHA:83620 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
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Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... |
OMIM:614069 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur... |
ORPHA:33226 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Decreased circulating antibody leve... |
OMIM:616740 |
Vipoma |
|
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Episodic abdom... |
ORPHA:97282 |
Polycythemia Vera |
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Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Myelodysplasia, Pulmonary embolism, Abdo... |
ORPHA:729 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
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Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... |
OMIM:614328 |
Diarrhea 13 |
|
Secretory diarrhea, Vomiting |
OMIM:620357 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties |
OMIM:620270 |
Cold Agglutinin Disease |
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Nausea and vomiting, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
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Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Gastrointestinal Stromal Tumor |
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Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia |
OMIM:606764 |
Pancreatoblastoma |
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Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting |
ORPHA:677 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... |
OMIM:619573 |
Agammaglobulinemia 8B, Autosomal Recessive |
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Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... |
OMIM:619824 |
Porphyria Due To Ala Dehydratase Deficiency |
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Hyponatremia, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level... |
ORPHA:100924 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Poor appetite... |
ORPHA:352447 |
Gist-Plus Syndrome |
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Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
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Cachexia, Diarrhea, Decreased activity of mitochondrial complex IV, Feeding difficulties, Weight ... |
OMIM:612075 |
Pancreatic Triacylglycerol Lipase Deficiency |
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Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence o... |
OMIM:607594 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Throm... |
ORPHA:79124 |
Snakebite Envenomation |
|
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... |
ORPHA:449285 |
Glucose/Galactose Malabsorption |
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Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
Autosomal Dominant Severe Congenital Neutropenia |
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Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Abdominal pain, Eo... |
ORPHA:486 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... |
OMIM:212750 |
Junctional Epidermolysis Bullosa Inversa |
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Anemia, Gastrointestinal inflammation |
ORPHA:79405 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Velopharyngeal insufficiency, Increased body weight, Constipation, Hypercho... |
OMIM:182290 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorptio... |
OMIM:601847 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis |
ORPHA:96168 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Failure to thrive, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, S... |
OMIM:607765 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... |
OMIM:239300 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... |
ORPHA:39812 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Gastritis, Skin ras... |
ORPHA:809 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction |
OMIM:108725 |
Immunodeficiency 19 |
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Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... |
OMIM:615617 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... |
ORPHA:324636 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Decreased CD4:CD8 ratio, Splenom... |
OMIM:618495 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasi... |
OMIM:618523 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Follicular hyperplasia, Diarrhea, Lymphadenopathy |
OMIM:240500 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... |
ORPHA:97283 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79406 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting |
ORPHA:30925 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Decreased circulating antibod... |
OMIM:601495 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Cocaine Intoxication |
|
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:90068 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema,... |
OMIM:606367 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Frontotemporal Dementia With Motor Neuron Disease |
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Abnormal mitochondrial morphology, Dysphagia |
ORPHA:275872 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Vomiting, Hypoalbuminemia, Hypocholesterolemia, Constrictive pericarditis, A... |
ORPHA:90363 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Villous atrophy, Malabsorption, Diarrhea, Obesity |
OMIM:600955 |
Congenital Disorder Of Glycosylation, Type Ib |
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Abnormal bleeding, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Hypoalbuminemia, Prote... |
OMIM:602579 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
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Increased mitochondrial number |
ORPHA:457050 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... |
ORPHA:331235 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorpti... |
OMIM:211600 |
Cog7-Cdg |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Feeding ... |
ORPHA:79333 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Polycythemia... |
OMIM:606812 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Decreased bo... |
ORPHA:247585 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... |
OMIM:603909 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease... |
ORPHA:169154 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
Chylous Ascites |
|
Neoplasm, Abnormal intestine morphology, Pancreatitis |
ORPHA:1160 |
American Trypanosomiasis |
|
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Congestive... |
ORPHA:3386 |
Neurofibroma |
|
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... |
ORPHA:252183 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Diarrhea,... |
ORPHA:79240 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... |
OMIM:301056 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... |
ORPHA:2796 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79411 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Abdominal pain, Diarrhea, Decreased activity of mitochondrial complex III, Hyperammonemia, Vomiti... |
OMIM:620137 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg... |
ORPHA:90041 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Polymicrogy... |
OMIM:619708 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... |
ORPHA:542323 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... |
ORPHA:2575 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Diarrhea |
OMIM:261750 |
Fanconi Anemia, Complementation Group O |
|
Cryptorchidism, Rectal atresia, Chromosome breakage, Anal atresia |
OMIM:613390 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Microangiopathic hemolytic anem... |
ORPHA:54057 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... |
ORPHA:97280 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Diarrhea, Recurrent aphthous stomatitis, Lymphadenopathy |
OMIM:150550 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... |
ORPHA:443811 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... |
ORPHA:91139 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... |
ORPHA:83471 |
Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ... |
ORPHA:91547 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat... |
ORPHA:199299 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Hypoalbuminemia, Pro... |
ORPHA:79327 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Diarrhea, Steatorrhea, Hyperbilirubinemia, Hepatic failure, Failure to thrive |
OMIM:235555 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... |
OMIM:600802 |
20Q13.33 Microdeletion Syndrome |
|
Hematochezia |
ORPHA:261311 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... |
ORPHA:69126 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Dracunculiasis |
|
Nausea and vomiting, Diarrhea |
ORPHA:231 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... |
ORPHA:85443 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... |
OMIM:249100 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Failure to thrive, Decreased proportion of naive T cells, Sk... |
ORPHA:276 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Elevated circulating C-reactive protei... |
ORPHA:32960 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Pyloric stenosis, Gastrointestinal dys... |
ORPHA:363705 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Feeding difficulties in infancy, Obesity, Cle... |
ORPHA:819 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Gout, Xanthelasma, Inflammation o... |
OMIM:232220 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Cerebral vasculitis, Eczema, Subarachnoid hemorrhage, Eosinophilic infiltration of the esophagus,... |
OMIM:243700 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Decreased body weight, Na... |
OMIM:607906 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Eczema, Rectal prolapse, Obesity, Pseudohypoparathyroidism, Feeding difficulties, High palate, Ga... |
OMIM:617157 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Osteoarthritis,... |
ORPHA:287 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... |
OMIM:617099 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Leprechaunism |
|
Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Hypokalemia, Hyperaldosteron... |
ORPHA:508 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... |
ORPHA:79430 |
Satoyoshi Syndrome |
|
Diarrhea, Mildly elevated creatine kinase, Malabsorption |
OMIM:600705 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Hypercholesterolemia, Failure to thrive in infancy, Feeding diffi... |
ORPHA:263501 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... |
OMIM:614699 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Villous atrophy, Osteomy... |
OMIM:614162 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Splenomegaly, Diarrhea, Bile duct proliferation, Increased serum bile acid concent... |
OMIM:602347 |
Multiple Endocrine Neoplasia, Type I |
|
Hypercalcemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... |
OMIM:131100 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Abdominal pain, Thrombocytopenia, Diarrhea, Vasculitis, Incre... |
ORPHA:83313 |
Mirage Syndrome |
|
Hyponatremia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Hyperkalemia, Patent ductus... |
OMIM:617053 |
Congenital Toxoplasmosis |
|
Thrombocytopenia, Diarrhea, Failure to thrive in infancy, Anemia |
ORPHA:858 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... |
OMIM:620189 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Anemia, Gastrointestinal inflammation |
ORPHA:79409 |
Alg8-Cdg |
|
Hyponatremia, Abnormality of the gastrointestinal tract, Small for gestational age, Thrombocytope... |
ORPHA:79325 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Skin rash, Abnormality of the spleen, Diarrhea, Weight... |
ORPHA:33276 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas... |
ORPHA:758 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Behçet Disease |
|
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd... |
ORPHA:117 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... |
ORPHA:2908 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Capillary leak, Protracted ... |
OMIM:615758 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology |
OMIM:300438 |
Acute Lung Injury |
|
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse ... |
ORPHA:178320 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... |
ORPHA:70578 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abdominal pain, Diarrhea, Encopresis, P... |
ORPHA:589821 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... |
ORPHA:29207 |
Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... |
OMIM:155310 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... |
ORPHA:93672 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated ci... |
OMIM:308240 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Complement Component 4B Deficiency |
|
Chronic diarrhea |
OMIM:614379 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... |
ORPHA:49827 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Abdominal pain, Rayn... |
ORPHA:93552 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... |
OMIM:263400 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... |
ORPHA:99826 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Myocardial infarction, Rectal prolapse, Gastr... |
ORPHA:904 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Decreased mitochondrial number, Slender build |
ORPHA:352470 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Esophageal varix, Portal hypertension |
ORPHA:974 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Splenomegaly, Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurre... |
OMIM:613489 |
Plague |
|
Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inflammation o... |
ORPHA:707 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary ... |
ORPHA:70591 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Recurrent otitis m... |
OMIM:619575 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Otitis media, Chronic otitis media, Abdominal pain, Vasculitis, Prostatitis, Nausea an... |
ORPHA:900 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, A... |
ORPHA:36426 |
Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Skin rash, Anorexia, Abdominal pa... |
ORPHA:761 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in infancy, Hepatosplenomegaly, Hyp... |
OMIM:619013 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Hypertension, ... |
OMIM:616069 |
Galactosemia I |
|
Hemolytic anemia, Diarrhea, Increased level of galactitol in plasma, Vomiting, Increased level of... |
OMIM:230400 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... |
OMIM:116920 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia, Diarrhea, Hy... |
ORPHA:927 |
H Syndrome |
|
Hypertriglyceridemia, Psoriasiform dermatitis, Malabsorption, Microcytic anemia, Abnormal cardiov... |
ORPHA:168569 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Erysipelas |
OMIM:214900 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Eczema, Cholelithiasis, Hepatic failure |
OMIM:177000 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Immunodeficiency 7 |
|
Splenomegaly, Diarrhea, Lymphadenopathy |
OMIM:615387 |
Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... |
OMIM:615207 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Chronic diarrhea, Lymph node hy... |
OMIM:602450 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Cutaneous Mastocytoma |
|
Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea |
ORPHA:79455 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Hyperglycinemia, Dysphagia, Hype... |
ORPHA:79101 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... |
ORPHA:100078 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Thrombocytopenia, Diarrhea, ... |
ORPHA:169105 |
Glycogen Storage Disease Ic |
|
Hepatoblastoma, Spider hemangioma, Chronic pancreatitis, Cyclic neutropenia, Hyperlipidemia, Gout... |
OMIM:232240 |
Necrotizing Enterocolitis |
|
Hyponatremia, Shock, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Leuk... |
ORPHA:391673 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... |
ORPHA:342 |
Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea |
ORPHA:85445 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Sinusitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Chronic diarrhea, Decreased cir... |
OMIM:102700 |
Methanol Poisoning |
|
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Diarrhea, Hyperlipidemia, Permanent a... |
ORPHA:31825 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Raynaud phenomenon, Punctate vasculitis skin l... |
ORPHA:247691 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Poor suck, Feeding difficulties, Gastroesophageal reflux, Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Elevated circulating creatine kinase... |
OMIM:610377 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hypoparathyroidism, High-output congestive heart fail... |
ORPHA:231226 |
Lujo Hemorrhagic Fever |
|
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Odynophagia, Leukopen... |
ORPHA:319213 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting |
OMIM:231690 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Myositis, Sinusitis, Hypertriglyceridemia, Skin rash, Thrombocytopenia, Splenomegaly... |
OMIM:617591 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... |
OMIM:557000 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hyperechogenic pancreas, Diarrhea, Neutropenia, Prolonged prothrombin time, Hi... |
OMIM:617941 |
Central Diabetes Insipidus |
|
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Porphyria, Acute Intermittent |
|
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... |
OMIM:176000 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Failure to thrive in infancy, Hypercalcemia, Portal hypertension, Feeding di... |
OMIM:194050 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Failure to thrive, Abnormal T cell count, Skin rash, Abnormal B cell count, Autoimmu... |
ORPHA:331206 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Arrhythmia, Hypertriglyceridemia, Elevated circulating c... |
OMIM:616516 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis, Mitochondrial swelling, Mildly elevated creatine kinase, Dysphagia |
ORPHA:397744 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Hemolytic anemia, Failure to thrive, Dysgammaglobulinemia, Incre... |
OMIM:308230 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Skin rash, Increased circulating ferritin conce... |
OMIM:603553 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Volvul... |
OMIM:609313 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytop... |
OMIM:275350 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia, Lymphadenopathy |
ORPHA:1332 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
Lassa Fever |
|
Abnormal bleeding, Nausea and vomiting, Shock, Abdominal pain, Diarrhea, Increased circulating Ig... |
ORPHA:99824 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Patent ductus arteriosus, Weight loss, Hypertrophic cardiomyopathy... |
ORPHA:1842 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Elevated circulating creatine kinase concentra... |
ORPHA:99829 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Failure to thrive, Feeding difficulties in infancy, Diarrhea, Stea... |
OMIM:212065 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the ... |
ORPHA:2538 |
Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Conjugated hyperbi... |
ORPHA:186 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... |
OMIM:256040 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Cachexia, Diarrhea, Hyperammonemia, Decreased... |
ORPHA:42 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Vomiting, Intermittent diarrhea, Failure to thrive... |
ORPHA:289504 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Recurrent otitis medi... |
OMIM:617475 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Chronic diarrhea, Dec... |
OMIM:615084 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hypoparathyroidism, Anemia of inadequate production, High-output co... |
ORPHA:231214 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrop... |
OMIM:619644 |
Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Hypertriglyceridemia, Pulmonary embolism, Perianal absce... |
ORPHA:444490 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated cardiomyopath... |
OMIM:618805 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Abdominal pain, Minimal change glomerulonephritis, Peri... |
ORPHA:567548 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... |
OMIM:302060 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... |
ORPHA:2290 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated plasma... |
OMIM:603471 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Acute hepatic failure, Prolonged QT interval, I... |
ORPHA:71212 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Nasogastric tube feeding in infancy, Hig... |
ORPHA:369837 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... |
OMIM:240300 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdominal distentio... |
ORPHA:436252 |
Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
Hypertriglyceridemia 1 |
|
Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increase... |
OMIM:616005 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Le... |
OMIM:613989 |
Carcinoid Syndrome |
|
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... |
ORPHA:100093 |
Bile Acid Malabsorption, Primary, 2 |
|
Decreased circulating chenodeoxycholic acid concentration, Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Hyperaldosteronism, Vomiti... |
OMIM:264350 |
B4Galt1-Cdg |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Small for gestational age, Elevated circ... |
ORPHA:79332 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Increased circulating renin le... |
ORPHA:85138 |
Postinfectious Vasculitis |
|
Anorexia, Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, U... |
ORPHA:48435 |
Classic Galactosemia |
|
Abnormal erythrocyte enzyme level, Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepa... |
ORPHA:79239 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Anemia, Gastrointestinal inflammation |
ORPHA:79410 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Pyloric stenosis, Hyperlipidemia, Abdominal distention, Gastroesophage... |
OMIM:256300 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Pudendal Neuralgia |
|
Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genitourinary tract... |
ORPHA:60039 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure... |
OMIM:616457 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Poor appetite, Lymphadenopathy |
ORPHA:2221 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Nasogastric tube feeding, Feeding difficulties, Abnormal mitochondrial shape, Dysphagia |
ORPHA:485421 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Malakoplakia |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Uri... |
ORPHA:556 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Splenomegaly, Diarrhea |
OMIM:619849 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... |
OMIM:617765 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption, Pustule, Cong... |
ORPHA:77297 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, ... |
ORPHA:36397 |
Coffin-Lowry Syndrome |
|
Rectal prolapse, Narrow palate, Mitral regurgitation, High palate, Decreased body weight |
OMIM:303600 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Vomiting, Palpitations, Decreased activity of mitochondrial complex I, Hyperal... |
OMIM:618250 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Hypercalcemia, Peptic ulcer, Testicular neoplasm, Pituitary corticotropic ce... |
ORPHA:276152 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Diarrhea, Thrombocytopenia, Hypo... |
OMIM:603554 |
Sarcoidosis, Susceptibility To, 1 |
|
Pancytopenia, Anorexia, Iridocyclitis, Splenomegaly, Enlarged lacrimal glands, Bronchiectasis, Uv... |
OMIM:181000 |
Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Diarrhea... |
OMIM:260920 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Carnitine Deficiency, Systemic Primary |
|
Elevated circulating creatine kinase concentration, Congestive heart failure, Diarrhea, Hyperammo... |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number, Macrocytic anemia,... |
OMIM:615578 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertriglyceridemia, Polycystic ovaries |
ORPHA:280356 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Decreased body weight, Recurrent in... |
ORPHA:51890 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, High palate, ... |
OMIM:619418 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Weight loss, Hypotension, Arrh... |
ORPHA:188 |
Melas |
|
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Intestinal pseudo-obstruction, Cardiac conduc... |
ORPHA:550 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Psoriasiform dermatitis, Diarrhea, Abnormal T cell subset distribution, Decreased circulating ant... |
ORPHA:221139 |
Schimke Immuno-Osseous Dysplasia |
|
Lymphopenia, Transient ischemic attack, Small for gestational age, Minimal change glomerulonephri... |
ORPHA:1830 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Small for gestational age, Portal hypertension, Abdominal pain, Conjugated hyper... |
ORPHA:567983 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Tempi Syndrome |
|
Intracranial hemorrhage, Increased hematocrit, Polycythemia, Telangiectasia |
ORPHA:284227 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Osteomyelitis, Malabsorption, Feeding difficult... |
ORPHA:565 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Hyperaldosteronism, Vomiting, Increas... |
OMIM:177735 |
Acrodermatitis Enteropathica |
|
Glossitis, Poor appetite, Anorexia, Malabsorption, Pustule, Chronic diarrhea, Cheilitis, Furrowed... |
ORPHA:37 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Diarrhea, Lympha... |
ORPHA:31205 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... |
ORPHA:330001 |
Legionnaires Disease |
|
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea,... |
ORPHA:549 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Lymphadenopathy |
ORPHA:411703 |
Dystonia-Aphonia Syndrome |
|
Macroglossia, Abnormal mitochondrial shape, Dysphagia |
ORPHA:412217 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Polycystic ovaries, Macroglossia, Hypercholestero... |
ORPHA:528 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... |
ORPHA:731 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Sinusitis, Autoimmune hemolytic anemia, Dysgammaglobu... |
OMIM:251260 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Pancytopenia, Failure to thrive in infancy, Portal hypertension, Feeding difficulties in infancy,... |
OMIM:613385 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
OMIM:137270 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... |
ORPHA:66628 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Failure to thrive, Reticulocytosis, Anisocytosis, Diarrhea, Leukocytosis, Hepat... |
OMIM:618278 |
Omenn Syndrome |
|
Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Thyroiditis, Erythroderma,... |
ORPHA:39041 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... |
ORPHA:179494 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... |
ORPHA:1304 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233690 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Feed... |
OMIM:620358 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Testicular neoplasm,... |
ORPHA:143 |
Dpm1-Cdg |
|
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Hepatosplenome... |
ORPHA:79322 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Erythema nodosum, Lip telangiectasia, Palmar tel... |
OMIM:613471 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... |
ORPHA:100050 |
Hyperlipoproteinemia, Type I |
|
Pancreatitis, Hyperlipidemia, Splenomegaly, Episodic abdominal pain, Hepatosplenomegaly, Lactesce... |
OMIM:238600 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent pneumonia, Pneumonia, Esophagitis |
ORPHA:3348 |
Congenital Myopathy 20 |
|
Failure to thrive, Chronic diarrhea, High palate |
OMIM:620310 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Hyperlipidemia, Elevated circulating creatinine concentration, Schisto... |
OMIM:235400 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ... |
OMIM:615508 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... |
OMIM:618398 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial p... |
ORPHA:454831 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Anorexia, Cryptorchidism, Diarrhea, Hyperkale... |
ORPHA:361 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Anorexia, Right ventricular failure, Abdomi... |
ORPHA:100085 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... |
ORPHA:2176 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Episcleritis, Atrial fibrillation, Keratitis, Congestive heart failure, Diar... |
ORPHA:525731 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Lymphopenia, Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bro... |
OMIM:242700 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Congestive heart failure, Diarrhea, Recurrent pneumonia, Splenomeg... |
OMIM:309900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, El... |
OMIM:608836 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertension, H... |
ORPHA:79083 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Chronic active hepatitis, Decrease... |
OMIM:203800 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Hypertriglyceridemia, Abdominal distention, Hypophosphatemia, Hepatocellular c... |
ORPHA:2088 |
Mucopolysaccharidosis, Type Iiic |
|
Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia |
OMIM:252930 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... |
OMIM:226730 |
Gastrocutaneous Syndrome |
|
Peptic ulcer, Hiatus hernia |
ORPHA:2069 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Abdominal distention, Hyperlipidemia, Hepatocellular carcinoma, Hypertrophic cardiomyopathy, Fail... |
ORPHA:369 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Polycystic ovaries, Hypertrophic ca... |
ORPHA:2348 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Peptic ulcer, Testicular neoplasm,... |
ORPHA:99880 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Elevated circula... |
OMIM:223900 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Osteoma, ... |
ORPHA:261584 |
Cholera |
|
Hyponatremia, Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentrati... |
ORPHA:173 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hyperammonemia, Feeding difficultie... |
OMIM:255120 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Arrhythmia, Microcolon |
ORPHA:163746 |
Reni Syndrome |
|
Cryptorchidism, Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... |
OMIM:301500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:363400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated card... |
ORPHA:20 |
Acute Promyelocytic Leukemia |
|
Abnormal bleeding, Pancytopenia, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar hemorrhage... |
ORPHA:520 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Acute myeloid leukemia, Testicular neoplasm, Ovarian neoplasm, Neoplasm... |
ORPHA:524 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Patent ductus arteriosus, Ulce... |
OMIM:617137 |
Abetalipoproteinemia |
|
Abnormal bleeding, Decreased HDL cholesterol concentration, Failure to thrive, Reticulocytosis, A... |
ORPHA:14 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Skin rash, Diarrhea, Hepatitis, Hepatic ne... |
ORPHA:90062 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Telangiectasi... |
OMIM:601675 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Abnormal mitochondrial shape, Patent ductus arteriosus, Decreased activit... |
ORPHA:17 |
Lig4 Syndrome |
|
Abnormality of chromosome stability, Pancytopenia, Telangiectasia of the skin, Malabsorption, Cry... |
ORPHA:99812 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Leukocytosis, Hyperammonemia, Weight loss, Hypertension, Vomiting, Hyperurice... |
ORPHA:134 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Acute Intermittent Porphyria |
|
Hyponatremia, Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, I... |
ORPHA:79276 |
Lysinuric Protein Intolerance |
|
Hypolysinemia, Protein avoidance, Increased circulating ferritin concentration, Diarrhea, Malnutr... |
OMIM:222700 |
Colchicine Poisoning |
|
Hyponatremia, Congestive heart failure, Diarrhea, Myocarditis, Hypovolemia, Abnormal blood ion co... |
ORPHA:31824 |
Meconium Ileus |
|
Chronic diarrhea, Meconium ileus |
OMIM:614665 |
22Q11.2 Deletion Syndrome |
|
Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Hypoplasia of the th... |
ORPHA:567 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Portal ... |
OMIM:615688 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... |
ORPHA:2552 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic... |
ORPHA:3240 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Patent ductus arteriosus, Cleft palate, Increased mean corpuscular volume, Eso... |
OMIM:612562 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Hypoglycinemia, Megaloblastic anemia, Hyposerinemia, Feeding difficulties, Gastroesophageal reflu... |
ORPHA:79351 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, Cons... |
ORPHA:93932 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo... |
OMIM:214700 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia |
OMIM:613877 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Uveitis, Ar... |
ORPHA:36412 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Villous atrophy, Failure to thrive, Small for gestational age, Thrombocytos... |
OMIM:222470 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Abdominal distention, Leukocytosis, Chronic diarrhea, Bronchiectasis, Ga... |
OMIM:620233 |
Caroli Disease |
|
Cholangiocarcinoma, Liver abscess, Cholangitis, Anorexia, Portal hypertension, Conjugated hyperbi... |
ORPHA:53035 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Micr... |
ORPHA:99843 |
Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Renal neoplasm, Abdominal pain, Retinal hamartoma, Renal angiomyolip... |
ORPHA:538 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive, Petechiae |
ORPHA:51188 |
Encephalopathy, Ethylmalonic |
|
Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding difficulties, Fail... |
OMIM:602473 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Splenomegaly, Chronic diarrhea, Aplasia of the... |
OMIM:612132 |
Blue Diaper Syndrome |
|
Diarrhea, Hyperphosphatemia, Increased body weight, Hypercalcemia |
ORPHA:94086 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia |
OMIM:256700 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... |
OMIM:618620 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Poor appetite, Splenomegaly, Diarrhea, Decreased serum zinc, Failure to thrive, Decreased testicu... |
OMIM:201100 |
Immunodeficiency 9 |
|
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis |
OMIM:612782 |
Esophageal Atresia |
|
Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... |
ORPHA:1199 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Anal fissure, Dilated cardiomyopathy, Malnutrition... |
ORPHA:79408 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abd... |
ORPHA:420741 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Abnormal circulating fatty-acid concentration, Diarrhea, ... |
ORPHA:263455 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Mitochondrial hypertrophy, Failure to thrive, Poor suck, Elevated circulating creatine kinase con... |
OMIM:619518 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalb... |
ORPHA:1667 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea |
ORPHA:90035 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:306400 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Nausea and vomiting, Decreased circulating cortisol level, Orthostatic hypotension,... |
ORPHA:95409 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morphology, Hi... |
ORPHA:2457 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Patent ductus arteriosus, Pyelonephritis, Bidir... |
OMIM:619351 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Diarrhea |
OMIM:252920 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Vomiting,... |
OMIM:619991 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Osteomyelitis, Reticulocytosis, Microcytic anemia, Abnormal... |
ORPHA:232 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Abdominal disten... |
OMIM:256810 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Anorexia, Leukocytosis, Weight loss, Lymphocytosis, Hypochromic anemia,... |
ORPHA:514 |
Rothmund-Thomson Syndrome Type 1 |
|
Calcinosis, Small for gestational age, Aplastic anemia, Cryptorchidism, Diarrhea, Functional abno... |
ORPHA:221008 |
Mitochondrial Phosphate Carrier Deficiency |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro... |
OMIM:115310 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Polycystic ovaries, Hypertension, ... |
OMIM:604367 |
Deeah Syndrome |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Decreased response to growt... |
OMIM:619004 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Portal hypertension, Hematemesis, Pancreatic cysts, Esophageal varix, Hypertension |
OMIM:263200 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Anal stenosis, Abnormality of chromosome stability, Autoimmune hemolytic anemia... |
ORPHA:647 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Diarrhea |
OMIM:252900 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia, Obesity |
OMIM:617885 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Recurrent skin infections, Pneumonia, Esophageal stricture, Dilated cardiomyopathy, Malnutrition,... |
ORPHA:79404 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc... |
ORPHA:263297 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Cryptorchidism, Hypertriglyceridemia, Telangiectasia of the skin |
OMIM:615381 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Mitral ... |
ORPHA:2556 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated circulating creatinine concentration, S... |
ORPHA:230 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Bru... |
OMIM:225400 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... |
ORPHA:2131 |
Rothmund-Thomson Syndrome Type 2 |
|
Calcinosis, Small for gestational age, Aplastic anemia, Cryptorchidism, Diarrhea, Functional abno... |
ORPHA:221016 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Peptic ulcer, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Pancreatitis |
OMIM:145981 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Diarrhea, Dila... |
OMIM:610768 |
Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... |
OMIM:223370 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension |
OMIM:608643 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen... |
OMIM:300972 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Panhypopituitarism, Decreased testicular size, Chronic decreased circulating IgG1 |
OMIM:300953 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Vomiting, Conjunctivit... |
ORPHA:533 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Cryptorchidism, Overweight, Chronic diarrhea, Chronic constipati... |
ORPHA:500055 |
Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Pneumonia, Poor appetite, Anorexia, Bowel urgency, Right ventricular fai... |
ORPHA:97287 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Small for gestational age, Diarrhea, Feeding diffi... |
OMIM:606721 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Congestive heart failure, Diarrhea,... |
ORPHA:2331 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Spl... |
OMIM:253260 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis, Cryptor... |
OMIM:307030 |
Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Myocardial infarction, Diarrhea, Xanthelasma, Pseudobulbar paralysis, Abnormal c... |
OMIM:213700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233710 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Hepatitis, ... |
ORPHA:139402 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... |
ORPHA:280365 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... |
OMIM:618050 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Lymphopenia, Failure to thrive, Sinusitis, Elevated circulating alph... |
OMIM:208900 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Bleeding requiring red cell transfusion, Conjugated hyperbilirubinemia, Chronic diarrhea, Failure... |
OMIM:619484 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Cholelithiasis, Anem... |
ORPHA:231222 |
Familial Hypoaldosteronism |
|
Hyponatremia, Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hyperkalemia, Hypovolemia, ... |
ORPHA:427 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Angina pectori... |
ORPHA:412 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia |
OMIM:617666 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Nausea |
OMIM:229600 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... |
ORPHA:96182 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatosplenomegaly, Feeding difficulties, Decreased serum zinc, Esophagitis, Hepatic failure |
ORPHA:541423 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... |
OMIM:618372 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... |
ORPHA:124 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thro... |
ORPHA:77293 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, Diarrhea,... |
ORPHA:653 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Pustule, Congestive heart fa... |
ORPHA:247353 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Peptic ulcer, Hypercalcemia, Primary hyperparathyroidism, Hypermagnesemia, Hypophosphatemia, Panc... |
OMIM:600740 |
Cockayne Syndrome Type 1 |
|
Cryptorchidism, Diarrhea, Uveitis, Hypertension, Conjunctivitis, Increased blood urea nitrogen, F... |
ORPHA:90321 |
Localized Scleroderma |
|
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagit... |
ORPHA:90289 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia, Long uvula, Cryptorchidism, Narrow palate, Keratoconjunctivitis sicca, Peri... |
ORPHA:536532 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration, Angina pectoris |
OMIM:614025 |
Microphthalmia, Syndromic 1 |
|
Aganglionic megacolon, Pyloric stenosis, Rectal prolapse, Cryptorchidism, High, narrow palate, Hi... |
OMIM:309800 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis |
OMIM:608654 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hyperlipidemia, Gout, Xanthelasma, Hypertension, Hyperuricemia, Protuberant ab... |
OMIM:232200 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Pancytopenia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiting |
OMIM:618321 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Neutropenia, Hypoparathyroid... |
ORPHA:699 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Dilated cardiomyopathy |
OMIM:602541 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Pancytopenia, Anorexia, Abdominal pain, Urinary bladder inflammation, Diarrhea, Esopha... |
ORPHA:99921 |
Trichohepatoneurodevelopmental Syndrome |
|
Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Macroglossia, Gas... |
OMIM:618268 |
Aapoaiv Amyloidosis |
|
Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,... |
ORPHA:439232 |
Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126840 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Elevated circulating creatine kinase concentration, Sudden cardiac death, Dilated ca... |
OMIM:614921 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Achalasia, Ab... |
ORPHA:324 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidism, Chronic dia... |
OMIM:619005 |
Xp21 Deletion Syndrome |
|
Nausea and vomiting, Hypertriglyceridemia, Recurrent otitis media, Elevated circulating creatine ... |
ORPHA:261476 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure |
OMIM:619431 |
Common Variable Immunodeficiency |
|
Pneumonia, Gastrointestinal stroma tumor, Lymphoma, Vasculitis, Bronchiectasis, Otitis media, Chr... |
ORPHA:1572 |
Menke-Hennekam Syndrome 2 |
|
Chronic constipation, Duodenal ulcer |
OMIM:618333 |
Mucopolysaccharidosis, Type Iiid |
|
Splenomegaly, Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgitat... |
OMIM:252940 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Pancreatitis, Polycystic ovaries |
ORPHA:435651 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating luteinizi... |
OMIM:617253 |
Aregenerative Anemia |
|
Abnormal bleeding, Pancytopenia, Erythroid hypoplasia, Thrombocytopenia, Reticulocytopenia, Neutr... |
ORPHA:101096 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... |
ORPHA:2896 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Myocardial... |
ORPHA:99889 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Neutropenia, Lymphopenia |
OMIM:617827 |
Hardikar Syndrome |
|
Cholangitis, Vomiting, Cleft soft palate, Portal hypertension, Abdominal pain, Patent ductus arte... |
OMIM:301068 |
Japanese Encephalitis |
|
Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, ... |
ORPHA:79139 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Reye syndrome-like episodes, Diarrhea, Vomiting, Hyperuricemia, Hyperalaninemia, Neo... |
ORPHA:348 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Cardiomyopathy, Abnormal granulocyte morphology, Abnormal circulat... |
ORPHA:98907 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... |
OMIM:105210 |
Rothmund-Thomson Syndrome |
|
Calcinosis, Telangiectasia of the skin, Skin rash, Small for gestational age, Aplastic anemia, Na... |
ORPHA:2909 |
Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Hypertriglyceridemia, Abnormal cardiovascular system physiology, Polycystic o... |
ORPHA:79086 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Vomiting, Hypocalcemia, A... |
ORPHA:94093 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Obesity, Increased LDL cholesterol concentration, Cholesterol ga... |
ORPHA:209902 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia, P... |
ORPHA:79477 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia, Bile duct proliferation |
OMIM:613027 |
Kikuchi-Fujimoto Disease |
|
Abnormality of the gastrointestinal tract, Skin rash, Elevated circulating C-reactive protein con... |
ORPHA:50918 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, Myocardial infarction, Celiac disease, High, narrow palate, Increased circ... |
ORPHA:881 |
9Q33.3Q34.11 Microdeletion Syndrome |
|
Epistaxis, Cryptorchidism, Patent ductus arteriosus, Telangiectasia, Constipation, Esophagitis, D... |
ORPHA:495818 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hiatus hernia, Pyloric stenosi... |
ORPHA:3342 |
Gitelman Syndrome |
|
Tubulointerstitial nephritis, Iron deficiency anemia, Hypocalcemia, Prominent U wave, Abnormal T-... |
ORPHA:358 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anal stenosis, Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infa... |
ORPHA:280633 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Hypovolemia, Bicarbonaturia, Hypokalemia, Vomiting, Failure to thrive |
ORPHA:47159 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Sandhoff Disease |
|
Orthostatic hypotension, Chronic diarrhea, Hepatosplenomegaly, Episodic abdominal pain, Macroglossia |
OMIM:268800 |
Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Alagille Syndrome 1 |
|
Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma, Hypercholesterolemia, Hepatic ... |
OMIM:118450 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Plasminogen Deficiency, Type I |
|
Duodenal ulcer, Decreased level of plasminogen, Conjunctivitis, Periodontitis, Nephritis |
OMIM:217090 |
Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Gastrointestinal telangiectasia, Oral leukoplakia, Retinal telangiectasia |
OMIM:612199 |
Orofaciodigital Syndrome Type 4 |
|
Monorchism, High, narrow palate, Rectal atresia, Submucous cleft hard palate, Cleft palate, Feedi... |
ORPHA:2753 |
Serotonin Syndrome |
|
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea |
ORPHA:43116 |
Steinert Myotonic Dystrophy |
|
Prolonged QRS complex, Intestinal pseudo-obstruction, Decreased response to growth hormone stimul... |
ORPHA:273 |
Familial Hypocalciuric Hypercalcemia |
|
Nausea and vomiting, Renal hypophosphatemia, Hypercalcemia, Peptic ulcer, Hypermagnesemia, Episod... |
ORPHA:405 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
Tangier Disease |
|
Hypertriglyceridemia, Abdominal pain, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, ... |
ORPHA:31150 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Cachexia, Narrow pala... |
ORPHA:109 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Ectopic posterior pituitary, Feeding difficulties in infancy, Nasoga... |
ORPHA:508488 |
Mowat-Wilson Syndrome |
|
Cleft hard palate, Asplenia, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Cryptorchidism,... |
ORPHA:2152 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Thrombocytopenia, Chronic diarrhea, Obesity, Anemia |
OMIM:620072 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Polycystic ovaries |
ORPHA:435660 |
Ogden Syndrome |
|
Ventricular tachycardia, Iron deficiency anemia, Vomiting, High palate, Supraventricular tachycar... |
OMIM:300855 |
Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Constipation |
OMIM:600145 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Polycystic ovaries |
ORPHA:79085 |
Alg9-Cdg |
|
Villous atrophy, Tricuspid regurgitation, Diarrhea, Hypoplasia of the ovary, Gastroesophageal ref... |
ORPHA:79328 |
Farber Disease |
|
Failure to thrive, Thrombocytopenia, Chronic diarrhea, Feeding difficulties, Hepatosplenomegaly, ... |
ORPHA:333 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter |
ORPHA:424 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Hypoalbuminemia, Acne, Seborrheic dermatitis |
OMIM:614441 |
Mucopolysaccharidosis Type 3 |
|
Malabsorption, Splenomegaly, Atrioventricular block, Macroglossia, Reduced left ventricular eject... |
ORPHA:581 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Poor appetite, Diarrhea, Hypokalemia, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Cryptorchidism, Hyperlipidemia, Obesity, Cleft palate, Mitral regurgitation... |
ORPHA:254346 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Pneumonia, Cryptorchidism, Feeding difficulties,... |
OMIM:264090 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Small for... |
OMIM:601678 |
Leptospirosis |
|
Nausea and vomiting, Pericarditis, Skin rash, First degree atrioventricular block, Anorexia, Abdo... |
ORPHA:509 |
Arteriosclerosis, Severe Juvenile |
|
Anemia, Hypertension, Gastric ulcer, Myocardial infarction |
OMIM:208060 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Elevated circulating creatine kinase concentration, Esophagitis, Feeding difficulties |
OMIM:615356 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Polycystic ova... |
OMIM:151660 |
Lipodystrophy, Familial Partial, Type 6 |
|
Elevated circulating creatine kinase concentration, Hyperlipidemia, Hypertension, Abdominal obesi... |
OMIM:615980 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Hurler Syndrome |
|
Angina pectoris, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cardiomyopathy, Hypertensi... |
ORPHA:93473 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Acute pancreatit... |
ORPHA:466677 |
Familial Gestational Hyperthyroidism |
|
Goiter, Diarrhea, Thyroid hyperplasia, Weight loss |
ORPHA:99819 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Intestinal malrotation, Patent ductus arteriosus, Feeding difficulties... |
ORPHA:2255 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Increased body weight, Leydig cell neoplasia, ... |
ORPHA:1359 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Chronic pancreatitis, Congestive heart failure, Obesity, Pineal cyst, Cardi... |
ORPHA:98908 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1c, Mitral regurgitation, Hig... |
OMIM:619127 |
Chikungunya |
|
Abnormal bleeding, Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Erythema no... |
ORPHA:324625 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Atypical Werner Syndrome |
|
Decreased body weight, Hypertriglyceridemia, Telangiectasia of the skin, Failure to thrive, Conge... |
ORPHA:79474 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... |
ORPHA:158668 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
Purine Nucleoside Phosphorylase Deficiency |
|
Splenomegaly, Lymph node hypoplasia |
OMIM:613179 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size |
OMIM:610644 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Patent ductus arterios... |
OMIM:617140 |
Dermatomyositis |
|
Pericarditis, Sinus tachycardia, Telangiectasia of the skin, Myocardial infarction, Gastrointesti... |
ORPHA:221 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Gastric ulcer, Decreased circulating antibody level |
OMIM:604928 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Intestinal malrotation, Patent ductus arteriosus, Pulmonic stenosis, Colon pe... |
OMIM:600001 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Gas... |
OMIM:619472 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, High, narrow palate, Chron... |
OMIM:615873 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Diarrhea, Low-to-n... |
OMIM:241200 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Polycystic ovari... |
OMIM:269700 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral reg... |
ORPHA:363618 |
Aspartylglucosaminuria |
|
Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutropenia, Macroorc... |
OMIM:208400 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Functional intestinal obstruction |
ORPHA:199276 |
Occipital Horn Syndrome |
|
Gastroparesis, Hiatus hernia, High, narrow palate, Hepatitis, Gastroesophageal reflux, Esophagiti... |
ORPHA:198 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Cardiomyopathy |
OMIM:608594 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,... |
ORPHA:189427 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Recurrent skin infections, Decreased response to growth hormone stimulation... |
ORPHA:3455 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Keratitis, Myocarditis, Diarrhea, Congestive heart failure, Splenomeg... |
ORPHA:3385 |
Spondyloocular Syndrome |
|
Unilateral cryptorchidism, Duodenal ulcer, Decreased body weight |
OMIM:605822 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis |
ORPHA:86843 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Gastroesop... |
ORPHA:64 |
Congenital Analbuminemia |
|
Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypoalbuminemia, In... |
ORPHA:86816 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ... |
ORPHA:2968 |
Hypoplasminogenemia |
|
Cervicitis, Duodenal ulcer, Decreased level of plasminogen, Periodontitis, Abnormality of the ovary |
ORPHA:722 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Myocardial infarction, Hyperlipidemia, Elevated circula... |
OMIM:144250 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... |
ORPHA:97685 |
Penile Agenesis |
|
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia |
ORPHA:49 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Celiac disease, Hyperlipidem... |
ORPHA:293987 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Angina pectoris, Elevated circulating creatine kinase conce... |
ORPHA:565612 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Absent gallbladder, Gastroparesis, Transient ischemic attack, Failure to thrive in infancy, Feedi... |
ORPHA:500150 |
Mucopolysaccharidosis Type 2, Severe Form |
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Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Cardiomyopathy, Hypertension, A... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Splenomegaly, Chronic diarrhea, Heart murmur, Hepatosplenomegaly, Cardiomyopathy, Hypertension, A... |
ORPHA:217093 |
Restrictive Dermopathy |
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Aplasia/Hypoplastia of the eccrine sweat glands, Patent ductus arteriosus, Submucous cleft hard p... |
ORPHA:1662 |
Coffin-Siris Syndrome 1 |
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Duodenal ulcer, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, Patent d... |
OMIM:135900 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Abdominal pain, Pulmonary embolism, Minimal change glomerulonephritis, Hyperlipidemia, Hydrocele ... |
ORPHA:567546 |
Mucopolysaccharidosis Type 2 |
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Splenomegaly, Chronic diarrhea, Cardiomyopathy, Hypertension, Macroglossia, Hip osteoarthritis, A... |
ORPHA:580 |
Nmda Receptor Encephalitis |
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Ovarian teratoma, Orthostatic hypotension, Diarrhea, Vomiting, Testicular teratoma |
ORPHA:217253 |
Cerebrotendinous Xanthomatosis |
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Cholelithiasis, Chronic diarrhea, Mitochondrial respiratory chain defects |
ORPHA:909 |
Onychotrichodysplasia And Neutropenia |
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Lymphocytosis, Chronic irritative conjunctivitis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Breast aplasia, Hyperlipidemia, High palate |
ORPHA:90153 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
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Arthritis, Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Aromatase Deficiency |
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Macroorchidism, postpubertal, Eunuchoid habitus, Enlarged polycystic ovaries, Cryptorchidism, Hyp... |
ORPHA:91 |
Homozygous Familial Hypercholesterolemia |
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Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Heart murmur, Incre... |
ORPHA:391665 |