Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis |
OMIM:619398 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Pelvic Organ Prolapse, Susceptibility To |
|
Bowel incontinence, Rectal prolapse |
OMIM:176780 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... |
OMIM:619350 |
Ménétrier Disease |
|
Hypoproteinemia, Anorexia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa... |
ORPHA:2494 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Hyperlipidemia, Vomiting, Failure to thrive, Hypercholesterolemia, Hypoalbuminem... |
OMIM:615863 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Rectal prolapse, Stercoral ulcer, Anemia, Inte... |
ORPHA:209964 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Hyperlipoproteinemia, Type Id |
|
Colitis, Splenomegaly |
OMIM:615947 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... |
OMIM:619079 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia |
OMIM:613148 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis |
OMIM:612567 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... |
ORPHA:424019 |
Volvulus Of Midgut |
|
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... |
OMIM:193250 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Hernia, Intestinal obstruc... |
ORPHA:26790 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... |
OMIM:142623 |
Hirschsprung Disease |
|
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... |
ORPHA:388 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Abdominal pain, Weight loss, Intestinal obstruction, Crohn's... |
OMIM:266600 |
Eosinophilic Gastroenteritis |
|
Hypoalbuminemia, Dysphagia, Leukocytosis, Elevated circulating C-reactive protein concentration, ... |
ORPHA:2070 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
Autoinflammation With Infantile Enterocolitis |
|
Hypoalbuminemia, Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Anemia, Spl... |
OMIM:616050 |
Diverticulosis, Small-Intestinal |
|
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... |
OMIM:223320 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating polysaccharide concentration, Abdominal distention, Weight loss, Abnormal ci... |
ORPHA:103910 |
Chylomicron Retention Disease |
|
Vomiting, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminem... |
OMIM:246700 |
Enterocolitis |
|
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis |
OMIM:226150 |
Refractory Celiac Disease |
|
Jejunitis, Hypoproteinemia, Macrocytic anemia, Villous atrophy, Normocytic anemia, Iron deficienc... |
ORPHA:398063 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis |
OMIM:613960 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Hypoproteinemia, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Hypoalbuminemia,... |
OMIM:600351 |
Lactose Intolerance, Adult Type |
|
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... |
OMIM:223100 |
Juvenile Polyposis Syndrome |
|
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... |
OMIM:174900 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Neoplasm of the rectum, Esophageal... |
ORPHA:2869 |
Burkitt Lymphoma |
|
Nausea and vomiting, Abnormality of the ovary, Abnormality of the spleen, Hyperuricemia, Intestin... |
ORPHA:543 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Malabsorption, Hypoalbuminemia |
ORPHA:1954 |
Inflammatory Bowel Disease 11 |
|
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia |
OMIM:191390 |
Immunodeficiency 76 |
|
Lymphadenopathy, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:619164 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Abnormal intestine morphology, Thrombocytosis, Vomiting, Iron deficiency anemia,... |
OMIM:226300 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Colitis, Hypoalbuminemia |
ORPHA:88643 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Volvulus, Intussusception, Intestinal bleeding, Thromboc... |
OMIM:112200 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hypoalbuminemia, Vomiting, Failure to thrive, Abdominal distention, Anemia, Decreased liver funct... |
OMIM:608104 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... |
ORPHA:1876 |
Gastrointestinal Stromal Tumor |
|
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm o... |
ORPHA:44890 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... |
OMIM:617006 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Hypoalbuminemia, Diarrhea, Protein... |
OMIM:602579 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor, Megaloblastic anemia |
OMIM:243320 |
Nk-Cell Enteropathy |
|
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... |
ORPHA:263665 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Desmoid Tumor |
|
Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal po... |
ORPHA:873 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Acute colitis, ... |
ORPHA:67 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Oligospermia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Male infertility, Diarrhea, Abdomi... |
ORPHA:85450 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, Recurrent skin ... |
OMIM:300635 |
Alpha-Heavy Chain Disease |
|
Abnormality of the small intestine, Anemia, Malabsorption, Splenomegaly, Premature ovarian insuff... |
ORPHA:100025 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Esophageal neoplasm, Abnormal larg... |
ORPHA:2198 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea |
OMIM:615767 |
Nephrotic Syndrome, Type 1 |
|
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Abdominal distentio... |
OMIM:256300 |
Waardenburg-Shah Syndrome |
|
Abnormal intestine morphology, Aganglionic megacolon, Intestinal obstruction, Abdominal pain, Con... |
ORPHA:897 |
Mpi-Cdg |
|
Vomiting, Failure to thrive, Decreased liver function, Gastrointestinal hemorrhage, Hypoalbuminem... |
ORPHA:79319 |
Budd-Chiari Syndrome |
|
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Splenome... |
ORPHA:131 |
Ganglioneuroma |
|
Colorectal polyposis, Functional intestinal obstruction, Episodic abdominal pain, Abnormal rectum... |
ORPHA:251992 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... |
OMIM:261000 |
Congenital Short Bowel Syndrome |
|
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... |
OMIM:615237 |
Alg6-Cdg |
|
Macroglossia, Feeding difficulties, Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol... |
ORPHA:79320 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Hemolytic anemia |
OMIM:616744 |
Infantile Myofibromatosis |
|
Hypercalcemia, Abnormal intestine morphology, Chondrocalcinosis, Neoplasm of the pancreas, Intest... |
ORPHA:2591 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... |
OMIM:604416 |
Diarrhea 9 |
|
Failure to thrive, Diarrhea, Villous atrophy |
OMIM:618168 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Villous atrophy, Intractable diarrhea, Small for gestational age |
OMIM:613217 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Mucocutaneous Ulceration, Chronic |
|
Ileitis |
OMIM:618287 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... |
ORPHA:103907 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abdominal pain, Abnormal gastric mucosa morphology |
ORPHA:234 |
Gastroesophageal Reflux |
|
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm |
OMIM:109350 |
Diarrhea 2, With Microvillus Atrophy |
|
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy |
OMIM:251850 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption |
OMIM:613291 |
Radiation Proctitis |
|
Tenesmus, Abnormality of gastrointestinal vasculature, Abnormality of connective tissue, Intestin... |
ORPHA:70475 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Bloody diarrhea, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia... |
ORPHA:90038 |
Alg1-Cdg |
|
Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal tract, Hypoalbumi... |
ORPHA:79327 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
ORPHA:675 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis, Annular pancreas |
OMIM:167750 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis |
OMIM:618969 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
Hepatoportal Sclerosis |
|
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Hyperbilirubinemia, Gastric varix... |
ORPHA:64743 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Colitis, Recurrent sinusitis |
OMIM:613101 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the ... |
ORPHA:90362 |
Carney-Stratakis Syndrome |
|
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Intestinal obstruction, Gastrointestinal h... |
ORPHA:97286 |
Adenocarcinoma Of The Anal Canal |
|
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal stenosi... |
ORPHA:424016 |
Igg4-Related Aortitis |
|
Weight loss, Intestinal obstruction, Hypereosinophilia, Elevated circulating C-reactive protein c... |
ORPHA:449400 |
Anal Canal Carcinoma |
|
Anal canal squamous carcinoma |
OMIM:105580 |
Juvenile Polyposis Of Infancy |
|
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia,... |
ORPHA:79076 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... |
ORPHA:95427 |
Secondary Intestinal Lymphangiectasia |
|
Hypoalbuminemia, Decreased prealbumin level, Celiac disease, Increased stool alpha1-antitrypsin c... |
ORPHA:90363 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Splenomegaly, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis |
OMIM:618394 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Gastrostomy tube feeding in infancy, Atypical scarring of skin, Anal fissure, Malnutrition, Decre... |
ORPHA:89842 |
Malignant Peritoneal Mesothelioma |
|
Peritonitis, Weight loss, Abdominal distention, Ileus, Abdominal pain |
ORPHA:168811 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Ovarian neoplasm, Cachexia, Abdominal distention, Weight loss, Neoplasm of t... |
ORPHA:83469 |
Somatostatinoma |
|
Neoplasm of the small intestine, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... |
ORPHA:97283 |
Ppoma |
|
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Primary hyper... |
ORPHA:97278 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Immunodeficiency 57 With Autoinflammation |
|
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Gastritis, Reduced natura... |
OMIM:618108 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Neutropenia, Failure to thrive, Coombs-positive hemolytic anemia, Anemia, Chroni... |
OMIM:304790 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis, Bone marrow hypocellularity |
OMIM:615190 |
Glucagonoma |
|
Stomatitis, Normochromic anemia, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... |
ORPHA:97280 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... |
ORPHA:2978 |
Colonic Atresia |
|
Colonic atresia, Abdominal distention |
OMIM:303650 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis, Dysphagia, Vomiting |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis, Dysphagia, Vomiting |
OMIM:613412 |
Castleman Disease |
|
Nausea and vomiting, Abdominal distention, Weight loss, Anemia, Intestinal obstruction, Abnormali... |
ORPHA:160 |
Zollinger-Ellison Syndrome |
|
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Hype... |
ORPHA:913 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor, Constipation |
OMIM:606764 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Pyloric stenosis, Feeding difficulties in infancy, Increased mean platelet volume, Vomiting, Inte... |
OMIM:300048 |
Atresia Of Small Intestine |
|
Vomiting, Failure to thrive, Feeding difficulties, Abdominal distention, Jejunal atresia, Intesti... |
ORPHA:1201 |
Congenital Hypothyroidism |
|
Abnormality of reproductive system physiology, Feeding difficulties in infancy, Goiter, Macroglos... |
ORPHA:442 |
Immunodeficiency 17 |
|
Abnormal intestine morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, R... |
OMIM:615607 |
Grfoma |
|
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Primary hyper... |
ORPHA:97261 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Abnormal intestine morphology, Decreased prealbumin level, Neutropenia, Neutropenia in presence o... |
ORPHA:37042 |
Galloway-Mowat Syndrome 6 |
|
Decreased body weight, Decreased response to growth hormone stimulation test, High palate, Hypoal... |
OMIM:618347 |
Immunodeficiency 27A |
|
Leukocytosis, Thrombocytosis, Anorexia, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hy... |
OMIM:209950 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Absence of subcutaneous fat, Malabsorption, Chronic diarrhea, Intestin... |
OMIM:601675 |
Anal Sphincter Myopathy, Internal |
|
Abnormality of the anus, Constipation |
OMIM:105565 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Peritonitis, Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, ... |
ORPHA:343 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Intussusception, Intestinal ... |
OMIM:175200 |
Trichohepatoenteric Syndrome 2 |
|
Diarrhea, Hepatitis, Villous atrophy, Colitis |
OMIM:614602 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Chronic diarrhea, ... |
OMIM:600802 |
Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric hypertrophy, Gastric ulcer |
OMIM:161700 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Vomiting, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabs... |
OMIM:175500 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Arthritis, Chronic gastritis, Di... |
OMIM:608809 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Abdominal distention, Microvillus ... |
OMIM:619445 |
Immunodeficiency 31C |
|
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Diarrhea, Autoimmune hemolytic anemia |
OMIM:614162 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic polyposis, Colon ... |
OMIM:610069 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Pyloric stenosis, Dysphagia, Elevated circulating creatine kinase concentration, Feeding difficul... |
OMIM:613327 |
Bare Lymphocyte Syndrome, Type Ii |
|
Cholangitis, Infectious encephalitis, Villous atrophy, Protracted diarrhea, Malabsorption, Chroni... |
OMIM:209920 |
Serrated Polyposis Syndrome |
|
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... |
ORPHA:157798 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption |
OMIM:607748 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Vascular Hyalinosis |
|
Chorioretinal scar, Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia |
OMIM:277175 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... |
ORPHA:411696 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Primary amenorrhea, Obesity, Diarrhea |
OMIM:600955 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Projectile vomiting, Failure to thrive |
OMIM:179010 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hypoalbuminemia, Esophageal varix, Failure to thrive, Decreased liver function, Hepatosplenomegal... |
ORPHA:367 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption |
OMIM:221400 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Congenital hypoparathyroidism, Abnormal dental enamel morphology, Intestinal ... |
ORPHA:2323 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Dysphagia, Weight loss, Malabsorption, Intestinal obstruction, Eosinophilia,... |
ORPHA:183 |
Cap Polyposis |
|
Colorectal polyposis, Constipation, Atrophic gastritis, Abdominal distention, Weight loss, Diarrh... |
ORPHA:160148 |
Pancreatic Lipase Deficiency |
|
Hypolipidemia, Steatorrhea, Fat malabsorption |
OMIM:614338 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia |
OMIM:618805 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Aganglionic megacolon, Cachexia, Ileus, Constipation |
ORPHA:52503 |
Al Amyloidosis |
|
Abnormal salivary gland morphology, Hypoalbuminemia, Dysphagia, Macroglossia, Xerostomia, Abdomin... |
ORPHA:85443 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Lymphade... |
ORPHA:911 |
Leishmaniasis |
|
Anorexia, Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbu... |
ORPHA:507 |
Waardenburg Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Aplasia/Hypoplasia of the colon, Abnormality of th... |
ORPHA:3440 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Vomiting, Peritonitis, Fasci... |
ORPHA:32960 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Failure to thrive, Paralytic ileus |
OMIM:613559 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Decreased HDL cholesterol concentration, Vomiting, Hyperlipidemia, Hepatocellula... |
ORPHA:247585 |
Shigellosis |
|
Tenesmus, Abdominal pain, Abnormal blood ion concentration, Hyponatremia, Bloody mucoid diarrhea,... |
ORPHA:810 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... |
ORPHA:247798 |
Reticular Dysgenesis |
|
Leukopenia, Failure to thrive, Weight loss, Anemia, Malabsorption, Diarrhea, Abnormality of neutr... |
ORPHA:33355 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Neutropenia, Anemia, Splenomegaly, Decreased liver function, Increased circulating ferritin conce... |
ORPHA:540 |
Reynolds Syndrome |
|
Xerostomia, Dysphagia, Gastroesophageal reflux, Abnormal gastric mucosa morphology |
ORPHA:779 |
Hereditary Mixed Polyposis Syndrome |
|
Colorectal polyposis, Rectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Ne... |
ORPHA:157794 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... |
OMIM:616000 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Eczema, Lymphadenitis, Lymphadenopathy, Splenomegaly, Crohn's disease, Perianal abscess, Hepatosp... |
OMIM:618935 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Lymphadenopathy,... |
OMIM:614700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Gastrointestinal hemorrhage, Hyperthreoninemia, Hepatosplenome... |
ORPHA:247598 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Malabsorption, A... |
ORPHA:92050 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Inflammation of the large intestine |
OMIM:617718 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia, Hepatosplenomegaly, Eosinophilic... |
OMIM:618999 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Secretory diar... |
OMIM:618183 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism |
ORPHA:281090 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Hepatic failure, Hypoalbuminemia |
OMIM:617156 |
Cyclic Neutropenia |
|
Sinusitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis media, Recurrent... |
ORPHA:2686 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction... |
OMIM:243180 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Pneumonia, Bronchiectasis, Recurrent otitis media, Crohn's disease, Recurrent pneumoni... |
OMIM:601495 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... |
ORPHA:69126 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Feeding difficulties in infancy, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hyp... |
OMIM:619013 |
Epidermolysis Bullosa, Junctional, Herlitz Type |
|
Pyloric stenosis, Atrophic scars, Enamel hypoplasia, Failure to thrive |
OMIM:226700 |
Familial Mediterranean Fever |
|
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Malabsorption, Splenomegaly, Inte... |
ORPHA:342 |
Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis |
ORPHA:48104 |
Porphyria Variegata |
|
Hyponatremia, Scarring, Hepatocellular carcinoma, Nausea, Anemia, Ileus, Abdominal pain, Constipa... |
ORPHA:79473 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Anorexia, Thrombocytosis, Esophageal varix, Hypokalemia, Polycythemi... |
ORPHA:88673 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Psoriasiform dermatitis, Eczema, Bronchiectasis, Lymphadenopathy, Arthritis, Splenomegaly, Crohn'... |
OMIM:616100 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insuffic... |
ORPHA:309108 |
Immunodeficiency 82 With Systemic Inflammation |
|
Duodenal ulcer, Hypernatremia, Splenomegaly, Gastritis, Crohn's disease, Elevated circulating C-r... |
OMIM:619381 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Vomiting, Hypocholesterolemia, Failure to thrive, Acanth... |
ORPHA:14 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... |
OMIM:106300 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Hypergonadotropic hypogonadi... |
ORPHA:298 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Ulcerative colitis, Interstitial pneumonitis |
OMIM:614878 |
Cronkhite-Canada Syndrome |
|
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsor... |
ORPHA:2930 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Trigonocephaly 1 |
|
Omphalocele, Meckel diverticulum |
OMIM:190440 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Esophageal varix, Abdominal distention, Anemia, Bone-marrow foam c... |
ORPHA:75233 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased serum thromboxane B2, Gastric ulcer, Iron deficiency anemia, Abnormal c... |
OMIM:618372 |
Immunodeficiency 58 |
|
Eczema, Allergic rhinitis, Dysphagia, Helicobacter pylori infection, Recurrent cutaneous abscess ... |
OMIM:618131 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Hyperhomocystinemia, Hepatocellular carcinoma, Elevated circulating creatine kinase concentration... |
ORPHA:88618 |
Autoimmune Hepatitis |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... |
ORPHA:2137 |
Chylomicron Retention Disease |
|
Vomiting, Hypocholesterolemia, Failure to thrive, Abdominal distention, Acanthocytosis, Steatorrh... |
ORPHA:71 |
Trichohepatoenteric Syndrome 1 |
|
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... |
OMIM:222470 |
Gastric Volvulus, Intrathoracic |
|
Volvulus, Hiatus hernia |
OMIM:137210 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Dysphagia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevated alp... |
ORPHA:64753 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Feeding difficulties in infancy, Aganglionic megacolon, Vomiting, Failure to thrive, Ileus, Const... |
OMIM:300352 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Cystic Fibrosis |
|
Rectal prolapse, Bronchiectasis, Chronic sinusitis, Pancreatitis, Hepatosplenomegaly, Steatorrhea... |
OMIM:219700 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormal lymphocyte morphology, Anemia, Malabsorption, Thrombocytopenia, Cellu... |
ORPHA:229717 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Spontaneous abortion, ... |
ORPHA:86816 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... |
ORPHA:480536 |
Macrophage Activation Syndrome |
|
Neutropenia, Anemia, Splenomegaly, Decreased liver function, Increased circulating ferritin conce... |
ORPHA:158061 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Diarrhe... |
OMIM:601847 |
Galloway-Mowat Syndrome 3 |
|
High palate, Failure to thrive, Hiatus hernia, Hypoalbuminemia, Camptodactyly |
OMIM:617729 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... |
ORPHA:324964 |
Hermansky-Pudlak Syndrome 1 |
|
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis |
OMIM:203300 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... |
ORPHA:793 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Feeding difficulties in infancy, Thrombocytosis, Vomiting, Hypergonadotropic hyp... |
OMIM:212065 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Neuroendocrine Neoplasm Of Appendix |
|
Midgut malrotation, Nausea and vomiting, Anorexia, Ovarian neoplasm, Constipation, Bowel urgency,... |
ORPHA:100079 |
Fanconi Anemia, Complementation Group O |
|
Rectal atresia, Anal atresia |
OMIM:613390 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain, Melena |
OMIM:619182 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... |
ORPHA:329971 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, High palate, Cleft palate, Hypoalbuminemia |
OMIM:616730 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Dubowitz Syndrome |
|
Acute lymphoblastic leukemia, Eczema, Rectal prolapse, High palate, Anemia, Malabsorption, Chroni... |
ORPHA:235 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Primary Biliary Cholangitis |
|
Hepatocellular carcinoma, Celiac disease, Abnormal circulating lipid concentration, Abdominal dis... |
ORPHA:186 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Failure to thrive, Bloody diarrhea, Villous atrophy, Duodenitis |
OMIM:614328 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Erysipelas, Intestinal lymphangiectasia, Narrow palate, Protein-losing enteropathy |
OMIM:235510 |
Abetalipoproteinemia |
|
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis |
OMIM:200100 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
High palate, Unconjugated hyperbilirubinemia, Esophageal varix, Vomiting, Small for gestational a... |
OMIM:613658 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, B lymphocytopenia, Hypocholesterolemia, Feeding difficulties, Fail... |
ORPHA:79324 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Porphyria, Acute Intermittent |
|
Hepatocellular carcinoma, Vomiting, Nausea, Paralytic ileus, Diarrhea, Abdominal pain, Constipation |
OMIM:176000 |
Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Hepatic failure, Hyperbilirubinemia, Fat malabsorption |
OMIM:214950 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Feeding difficulties in infancy, Vomiting, Failure to thrive, Hyperbilirubinemia, Splenomegaly, H... |
OMIM:251880 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive m... |
ORPHA:2575 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... |
OMIM:603553 |
Immunodeficiency 85 And Autoimmunity |
|
Failure to thrive in infancy, Tube feeding, Villous atrophy, Vomiting, Chronic diarrhea, Reduced ... |
OMIM:619510 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux |
OMIM:613177 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Arthrogryposis multiplex congenita, Ileus, Splenomegaly, Hypogonadism, Mic... |
ORPHA:163746 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:614262 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic fa... |
OMIM:607765 |
Zygomycosis |
|
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... |
ORPHA:73263 |
Avian Influenza |
|
Elevated circulating C-reactive protein concentration, Vomiting, Leukopenia, Elevated circulating... |
ORPHA:454836 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Nephrotic Syndrome, Type 14 |
|
Hypogonadism, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism |
OMIM:617575 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Oral-pharyngeal dysphagia, Paralytic ileus, Gastrostomy tube feeding in infancy, Failure to thrive |
ORPHA:254930 |
Epidermolysis Bullosa Junctionalis With Pyloric Atresia |
|
Atrophic scars, Elevated maternal serum alpha-fetoprotein, Arthrogryposis multiplex congenita, In... |
OMIM:226730 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Meckel diverticulum |
OMIM:300864 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Failure to thrive, Cholelithiasis, Splenomegaly, Conjugated hyperbilirubinemia, Diarrhea, Fat mal... |
OMIM:211600 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Acute hepa... |
ORPHA:1667 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectovaginal fistula, Perineal fistula, Rectal atresia, Anal atresia |
ORPHA:3016 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Joint contracture of the ... |
OMIM:601110 |
Mucopolysaccharidosis-Plus Syndrome |
|
Neutropenia, Leukopenia, Macroglossia, Anemia, Splenomegaly, Flexion contracture, Hypoalbuminemia... |
OMIM:617303 |
Osteootohepatoenteric Syndrome |
|
Villous atrophy, Ileoileal intussusception, Hypokalemia, Episodic vomiting, Failure to thrive, We... |
OMIM:619377 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis |
OMIM:301220 |
Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Prostatitis, Weight loss, Intestinal obstruction, Gastrointestinal hemorrhag... |
ORPHA:900 |
Sandifer Syndrome |
|
Feeding difficulties, Esophagitis, Anemia, Hiatus hernia, Hematemesis, Gastroesophageal reflux, E... |
ORPHA:71272 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... |
ORPHA:158057 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, High palate, Small for gestational age, Feeding difficulties, Joint contracture ... |
OMIM:251300 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Shagreen patch, Cryptorchidism, Congenital pyloric atresia, Lipoatrophy |
ORPHA:2617 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Failure to thrive, Anemia, Splenomegaly, Steatorrhea, Malnutrition, Exocrine pancreatic insuffici... |
OMIM:612714 |
Congenital Enterovirus Infection |
|
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, He... |
ORPHA:292 |
Insulin-Resistance Syndrome Type B |
|
Abnormal salivary gland morphology, Abnormality of body weight, Leukopenia, Abnormal circulating ... |
ORPHA:2298 |
Diverticulosis Of Bowel, Hernia, And Retinal Detachment |
|
Colonic diverticula, Small bowel diverticula, Inguinal hernia, Femoral hernia |
OMIM:223330 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Failure to thrive, Feeding difficulties, Atrophic scars, Gastrostomy tube feeding in in... |
ORPHA:79396 |
Primary Sclerosing Cholangitis |
|
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... |
ORPHA:171 |
Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Failure to thrive, Mal... |
OMIM:601095 |
Netherton Syndrome |
|
Abnormal intestine morphology, Villous atrophy, Failure to thrive, Hypereosinophilia, Intestinal ... |
OMIM:256500 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Failure to thrive, Hypertyrosinemia, Splenomegaly, Acute hepatic failur... |
OMIM:276700 |
X-Linked Non-Syndromic Intellectual Disability |
|
Pyloric stenosis, Obesity, Meckel diverticulum, Small for gestational age |
ORPHA:777 |
Immunodeficiency 69 |
|
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... |
OMIM:618963 |
Disorder Of Bile Acid Synthesis |
|
Fat malabsorption |
ORPHA:79168 |
Bronchogenic Cyst |
|
Dysphagia, Abdominal pain, Abnormal stomach morphology, Abnormal esophagus morphology |
ORPHA:2357 |
Aggressive Systemic Mastocytosis |
|
Leukocytosis, Anorexia, Neutropenia, Abdominal cramps, Thrombocytopenia, Leukemia, Weight loss, A... |
ORPHA:98850 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Increased circulating ferritin conc... |
OMIM:615234 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis |
ORPHA:555905 |
Mungan Syndrome |
|
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction |
OMIM:611376 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Infertility, Megaloblastic anemia, Gastritis, Exocrine pancreatic insufficiency, Meconium ileus, ... |
OMIM:219721 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... |
ORPHA:309031 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology |
ORPHA:2290 |
Bacterial Toxic-Shock Syndrome |
|
Increased circulating myelocyte count, Vomiting, Peritonitis, Nausea, Elevated circulating creati... |
ORPHA:36234 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis, Camptodactyly of finger |
ORPHA:1759 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Hyponatremia, Pseudobulbar paralysis, Hepatocellular carcinoma, Abdominal di... |
ORPHA:79276 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dysphagia, Meckel diverticulum, Nasogastric tube feeding, Feeding difficulties, Poor suck |
ORPHA:163961 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Intestinal atresia, Anemia, Duodenal atresia |
ORPHA:3405 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux, Hernia |
ORPHA:98892 |
Scleroderma |
|
Abnormal large intestine morphology, Abnormality of the small intestine, Elevated circulating cre... |
ORPHA:801 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Failure to thrive, Weight loss, Anemia, Malabsorption, Glossoptosis, Chronic diarrhe... |
ORPHA:47 |
Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Vomiting, Stomatitis, Pneumonia, Nausea, Fasciitis, Myositi... |
ORPHA:39812 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Elevated circulating creatine kinase concentration, Hypocholeste... |
ORPHA:96180 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy, Hydrocele testis |
OMIM:618154 |
Lysosomal Acid Lipase Deficiency |
|
Decreased HDL cholesterol concentration, Esophageal varix, Vomiting, Leukopenia, Increased LDL ch... |
OMIM:278000 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Diarrhea, Small in... |
ORPHA:2929 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Feeding difficulties, Weight loss, Anemia, Hepatosplenomegaly, Hypoalbuminemia... |
OMIM:619487 |
Wolfram Syndrome 2 |
|
Primary amenorrhea, Oligomenorrhea, Gastric ulcer |
OMIM:604928 |
Colonic Atresia |
|
Omphalocele, Duodenal stenosis, Abdominal distention, Colonic atresia, Peptic ulcer |
ORPHA:1198 |
Systemic Sclerosis |
|
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circ... |
ORPHA:90291 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Dysphagia, Corneal scarring, Spontaneous esophageal perforation, Atrophic scars, Anemia, Enamel h... |
OMIM:226600 |
Oculoskeletodental Syndrome |
|
Hypercalcemia, Small for gestational age, Macroglossia, Splenomegaly, Hypocalcemia, Cryptorchidis... |
OMIM:618440 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Failure to thrive, Hyperbilirubinemia, Conjugated hyperbi... |
ORPHA:79303 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Odynophagia, Hyperammonemia, Diarrhea, Abdominal pain, Hyp... |
ORPHA:99826 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:208920 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... |
ORPHA:567548 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix, Splenomegaly |
OMIM:614576 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Rhabdoid Tumor |
|
Nausea and vomiting, Hypercalcemia, Weight loss, Anemia, Neoplasm of the liver, Poor appetite, Th... |
ORPHA:69077 |
Gaucher Disease, Type Ii |
|
Dysphagia, Failure to thrive, Feeding difficulties, Protuberant abdomen, Anemia, Splenomegaly, Th... |
OMIM:230900 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting |
OMIM:201475 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Arteriosclerosis, Severe Juvenile |
|
Anemia, Gastric ulcer |
OMIM:208060 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Malabsorption, Jejunal atresia, Intest... |
OMIM:615710 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties, Abnormal rectum morphology, Anteriorly... |
OMIM:239300 |
Immunodeficiency 92 |
|
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... |
OMIM:619652 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
B lymphocytopenia, Failure to thrive in infancy, Villous atrophy, T lymphocytopenia, Chronic diar... |
OMIM:606367 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Macroglossia, Anemia, Hernia, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemi... |
ORPHA:505248 |
Sweet Syndrome |
|
Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Sterile abscess, P... |
ORPHA:3243 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Dysmenorrhea, Esophageal varix, Vomiting, Nausea, Elevated cir... |
ORPHA:264580 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Feeding difficulties, Hypoalbuminemia, Hemolytic anemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Neonatal hyperbilirubinemia, Feeding difficulties, Hypoalbuminemia, Hemolytic anemia |
ORPHA:529799 |
Non-Syndromic Anorectal Malformation |
|
Ectopic anus, Rectovaginal fistula, Anal atresia, Anorectal anomaly, Rectourethral fistula, Persi... |
ORPHA:557 |
Immunodeficiency 43 |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:241600 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Wolfram Syndrome |
|
Feeding difficulties in infancy, Gastric ulcer, Anemia, Malabsorption, Hypogonadism, Gastrointest... |
ORPHA:3463 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... |
ORPHA:86839 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Pyloric stenosis, Ankle flexion contracture, Dysphagia, Failure to thrive, Knee flexion contractu... |
OMIM:619461 |
Visceral Myopathy 1 |
|
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... |
OMIM:155310 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Failure to thrive, Feeding difficulties, Bile duct proliferation, Hyperalaninemia, Decreased live... |
OMIM:618329 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... |
ORPHA:391487 |
X-Linked Lymphoproliferative Disease |
|
Myocarditis, Inflammation of the large intestine, Splenomegaly, Absent natural killer cells, Hepa... |
ORPHA:2442 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Kindler Epidermolysis Bullosa |
|
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... |
ORPHA:2908 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Abdominal pain, Peritonitis |
ORPHA:656 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Bile duct proliferation, Hyperbilirubinemia, Hepatosplenomegaly, Hepatic failure, Fat malabsorption |
ORPHA:79302 |
Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... |
ORPHA:3260 |
Leukocyte Adhesion Deficiency, Type I |
|
Periodontitis, Leukocytosis, Rectal abscess, Osteomyelitis |
OMIM:116920 |
Reactive Arthritis |
|
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... |
ORPHA:29207 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... |
OMIM:601346 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Duodenal stenosis, Camptodactyly of finger |
ORPHA:2547 |
Osteogenesis Imperfecta |
|
Dysphagia, Small for gestational age, Abnormal dental enamel morphology, Inguinal hernia, Intesti... |
ORPHA:666 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Poliomyelitis |
|
Dysphagia, Anorexia, Vomiting, Nausea, Paralytic ileus |
ORPHA:2912 |
Sepsis In Premature Infants |
|
Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Abd... |
ORPHA:90051 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... |
ORPHA:98870 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, High palate, Cleft palate, Abdominal distention, Splenomegaly, Pancreatic lympha... |
OMIM:235255 |
Leigh Syndrome With Nephrotic Syndrome |
|
Feeding difficulties, Gastrostomy tube feeding in infancy, Episodic vomiting, Hypoalbuminemia |
ORPHA:255249 |
Thymoma |
|
Myositis, Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Glomerulonephritis, Ulcer... |
ORPHA:99867 |
Icf Syndrome |
|
Macroglossia, Anemia, Malabsorption, Abnormality of neutrophils, Lymphopenia, Protruding tongue, ... |
ORPHA:2268 |
Infection-Related Hemolytic Uremic Syndrome |
|
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... |
ORPHA:544482 |
Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Feeding difficulties, Gastrostomy t... |
ORPHA:512 |
Shwachman-Diamond Syndrome |
|
Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopenia, Malnutrition, Acute myel... |
ORPHA:811 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Feeding difficulties, Esophagitis, Gastroesophageal reflux |
ORPHA:79350 |
Mirage Syndrome |
|
Hyperkalemia, Hyponatremia, Leukopenia, Anemia, Chronic diarrhea, Achalasia, Esophageal stricture... |
OMIM:617053 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Syndromic Diarrhea |
|
Bloody diarrhea, Villous atrophy, Hypoplasia of the thymus, Intractable diarrhea, Hepatoblastoma,... |
ORPHA:84064 |
Fg Syndrome Type 1 |
|
Pyloric stenosis, High palate, Abnormal large intestine morphology, Slender build, Inguinal herni... |
ORPHA:93932 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Hypoalbuminemia |
OMIM:614441 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... |
OMIM:619055 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233710 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Malrotation of small bowel |
ORPHA:139466 |
Plague |
|
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... |
ORPHA:707 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Bloody diarrhea, Hypochromic anemia, Eosinophilic infiltration of t... |
OMIM:618213 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Congenital diaphrag... |
ORPHA:2847 |
Matthew-Wood Syndrome |
|
Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Congenital diaphragmatic... |
ORPHA:2470 |
Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, A... |
ORPHA:220460 |
Leprechaunism |
|
Abdominal distention, Rectal prolapse, Megarectum |
ORPHA:508 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Abnormality ... |
ORPHA:562639 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Aganglionic megacolon, Asplenia, Failure to thrive, Splenogonadal fusion, Intestina... |
OMIM:156810 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Hyperlipidemia, Small for gestational age, Abnormal circulating fatty-acid conce... |
ORPHA:567983 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Granulomatous Disease, Chronic, X-Linked |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:306400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... |
OMIM:233690 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia, Failure to thrive, Anemia, Malabsorption, Anal atresia, Anteriorly placed anus, ... |
ORPHA:2315 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Selective Igm Deficiency |
|
Non-infectious meningitis, Lymphadenopathy, Fasciitis, Crohn's disease, Allergic rhinitis, Stomac... |
ORPHA:331235 |
Microgastria-Limb Reduction Defect Syndrome |
|
Microgastria, Perineal fistula, Abnormality of the spleen, Rectovaginal fistula, Feeding difficul... |
ORPHA:2538 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Megarectum, Thrombocytopenia, Feeding difficulties in infancy, Leukopenia |
OMIM:301056 |
Colorectal Cancer, Susceptibility To, 10 |
|
Colorectal polyposis |
OMIM:612591 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, High palate, Abdominal distention, Splenomegaly, Hepatosplenomegaly, Pancreatic ... |
ORPHA:1655 |
Cocaine Intoxication |
|
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... |
ORPHA:90068 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Nausea, Elevated circulating cr... |
ORPHA:79240 |
Hereditary Hyperekplexia |
|
Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:3197 |
Whipple Disease |
|
Hyponatremia, Cachexia, Anorexia, Anemia, Malabsorption, Erectile dysfunction, Splenomegaly, Gast... |
ORPHA:3452 |
Acute Transverse Myelitis |
|
Priapism, Gastroparesis, Abnormal libido, Paralytic ileus, Decreased circulating copper concentra... |
ORPHA:139417 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility, Polysplenia, Duodenal atresia, Intestinal malrotation |
OMIM:619608 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Abdominal... |
ORPHA:436252 |
Classical Ehlers-Danlos Syndrome |
|
Rectal prolapse, Vomiting, Nausea, Hiatus hernia, Osteoarthritis, Gastroesophageal reflux, Chroni... |
ORPHA:287 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Immunodeficiency 89 And Autoimmunity |
|
Crohn's disease, Bronchiectasis |
OMIM:619632 |
Multiple Osteochondromas |
|
Intestinal obstruction, Dysphagia |
ORPHA:321 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Chronic otitis media, Hypopl... |
ORPHA:906 |
Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
Pgm3-Cdg |
|
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... |
ORPHA:443811 |
Isolated Biliary Atresia |
|
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Failure to thrive, Splen... |
ORPHA:30391 |
Whim Syndrome |
|
Abnormality of the small intestine, Neutropenia, Parotitis, Lymphopenia, Cellulitis, Abnormality ... |
ORPHA:51636 |
Familial Mediterranean Fever |
|
Pericarditis, Vomiting, Peritonitis, Arthritis, Splenomegaly, Episodic abdominal pain, Crohn's di... |
OMIM:249100 |
Omenn Syndrome |
|
Hypoproteinemia, B lymphocytopenia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... |
OMIM:603554 |
Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Williams Syndrome |
|
Nausea and vomiting, Rectal prolapse, Abnormal gastric mucosa morphology, Peptic ulcer, Macroglos... |
ORPHA:904 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Distal arthrogryposis, High palate, Cleft palate, Scarring, Arthrogryposis multiplex congenita, I... |
OMIM:601776 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Hepatocellular carcinoma, Protuberant abdomen, Polycystic ov... |
ORPHA:79259 |
Coffin-Lowry Syndrome |
|
High palate, Rectal prolapse, Narrow palate |
OMIM:303600 |
Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Abdominal distention, Fatal liver failure in infancy, Bone-marrow foam cells, H... |
ORPHA:275761 |
Chronic Granulomatous Disease |
|
Pyloric stenosis, Malabsorption, Splenomegaly, Tracheoesophageal fistula, Abnormality of neutrophils |
ORPHA:379 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
|
Failure to thrive, Cryptorchidism, Meckel diverticulum, Inguinal hernia |
OMIM:602613 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Thrombocytopenia, Small for gestational age, Failure to thrive, Anemia, Persistence ... |
OMIM:260400 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Duodenal stenosis, Annular pancreas, Asplenia, Volvulus, Intestinal malrot... |
ORPHA:210122 |
Immunodeficiency 87 And Autoimmunity |
|
Hemolytic anemia, Cleft palate, Villous atrophy, Elevated circulating C-reactive protein concentr... |
OMIM:619573 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Abnormal testis morph... |
ORPHA:54251 |
Congenital Tracheal Stenosis |
|
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... |
ORPHA:141127 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Atrophic gastritis, Celiac disease, Xerostomia, Aplasia/Hypoplasia of the sple... |
ORPHA:227990 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Mediastinal ly... |
OMIM:181000 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Aganglionic megacolon, Anemia, Malabsorption, Lymphopenia, Inguinal hernia |
ORPHA:935 |
Fanconi Anemia, Complementation Group L |
|
Cleft palate, Anemia, Esophageal atresia, Anal atresia, Tracheoesophageal fistula |
OMIM:614083 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Adenoma sebaceum, Esophagitis, Insulinoma, Pituitary adenoma, Pitu... |
OMIM:131100 |
Down Syndrome |
|
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Myeloproliferative disorder... |
OMIM:190685 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Vomiting, Elevated circulating creatine kinase concentration, Abdominal distention, Atrophic scar... |
ORPHA:158684 |
Stevens-Johnson Syndrome |
|
Nausea and vomiting, Dysphagia, Weight loss, Anemia, Dyspareunia, Gastrointestinal hemorrhage, Es... |
ORPHA:36426 |
Williams-Beuren Syndrome |
|
Feeding difficulties in infancy, Rectal prolapse, Celiac disease, Recurrent otitis media, Colonic... |
OMIM:194050 |
Microcolon |
|
Microcolon |
OMIM:251400 |
Mixed Connective Tissue Disease |
|
Leukopenia, Xerostomia, Splenomegaly, Gastritis, Gastrointestinal hemorrhage, Hemolytic anemia, G... |
ORPHA:809 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Abdominal pain, Hydrocele testis, Hypoalbuminemia |
ORPHA:567546 |
Esophageal Atresia |
|
Pyloric stenosis, Omphalocele, Dysphagia, Cleft palate, Feeding difficulties in infancy, Duodenal... |
ORPHA:1199 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula |
OMIM:173900 |
Tracheobronchopathia Osteochondroplastica |
|
Esophagitis, Recurrent pneumonia, Pneumonia |
ORPHA:3348 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Esophageal varix, Failure to thrive, Bile duct proliferation, Abdominal distention, Elevated circ... |
OMIM:619534 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... |
OMIM:616860 |
Autoimmune Polyendocrinopathy Type 3 |
|
Autoimmune hypoparathyroidism, Macrocytic anemia, Atrophic gastritis, Celiac disease, Xerostomia,... |
ORPHA:227982 |
Muir-Torre Syndrome |
|
Benign gastrointestinal tract tumors, Adenoma sebaceum, Colonic diverticula, Duodenal adenocarcin... |
OMIM:158320 |
Multiple Endocrine Neoplasia, Type Iib |
|
High, narrow palate, Failure to thrive in infancy, Aganglionic megacolon, High palate, Nodular go... |
OMIM:162300 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal adenocarcinoma, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
Dextrocardia |
|
Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation |
ORPHA:1666 |
Toxic Epidermal Necrolysis |
|
Nausea and vomiting, Dysphagia, Neutropenia, Weight loss, Intestinal perforation, Anemia, Malabso... |
ORPHA:537 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Anemia, Abnormality of enteric nervous system morp... |
ORPHA:85451 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Polysplenia, Hypoplasia of the small intestine |
OMIM:200995 |
Familial Colorectal Cancer Type X |
|
Nausea and vomiting, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Malabsorpt... |
ORPHA:440437 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Cachexia, Abnormal large intestine morphology, Narrow palate, Lipoma, Intestinal polyposis, Hamar... |
ORPHA:109 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... |
ORPHA:300298 |
Li-Fraumeni Syndrome |
|
Colorectal polyposis, Acute lymphoblastic leukemia, Neoplasm of the rectum, Stomach cancer, Neopl... |
ORPHA:524 |
Gamma-Heavy Chain Disease |
|
Neoplasm of the tongue, Dysphagia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmu... |
ORPHA:100026 |
Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Crypto... |
OMIM:617137 |
Lynch Syndrome |
|
Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carcinoma, Malabsorption, Gastrointes... |
ORPHA:144 |
Sacral Defect With Anterior Meningocele |
|
Rectal abscess, Constipation |
OMIM:600145 |
Hardikar Syndrome |
|
Esophageal varix, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Umbilical hernia, Abdominal pa... |
OMIM:301068 |
Tarp Syndrome |
|
Cleft palate, Failure to thrive, Tongue nodules, Glossoptosis, Extramedullary hematopoiesis, Cryp... |
ORPHA:2886 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Nausea and vomiting, Congenital pyloric atresia, Abdominal distention, Enamel hypoplasia, Intesti... |
ORPHA:79403 |
Storm Syndrome |
|
Fat malabsorption |
OMIM:185069 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Esophageal varix, Cholangiocarcinoma, Pancreatic cysts, Feeding difficulties, Hepat... |
ORPHA:731 |
Bone Marrow Failure Syndrome 6 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... |
OMIM:618849 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Cachexia, Gastric ulcer, Esophageal varix, Azoospermia, Feeding diffic... |
ORPHA:2072 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Neoplasm of the rectum, Neopl... |
ORPHA:556 |
Meier-Gorlin Syndrome 7 |
|
High palate, Cleft palate, Duodenal stenosis, Anal atresia, Decreased body weight, Cryptorchidism... |
OMIM:617063 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reduced haptoglobin level, Dysphagia, Unconjugated hyperbilirubinemia, Leukopen... |
ORPHA:447 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Cleft palate, High palate, Duo... |
ORPHA:84 |
Microphthalmia, Syndromic 1 |
|
Pyloric stenosis, High, narrow palate, High palate, Rectal prolapse, Aganglionic megacolon, Recur... |
OMIM:309800 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... |
ORPHA:470 |
Musculocontractural Ehlers-Danlos Syndrome |
|
High palate, Cleft palate, Atrophic scars, Malrotation of small bowel, Arthrogryposis multiplex c... |
ORPHA:2953 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Pyloric stenosis, Small bowel diverticula, Hernia, Inguinal hernia |
ORPHA:90349 |
Postinfectious Vasculitis |
|
Inflammatory abnormality of the skin, Bacterial endocarditis, Anorexia, Pneumonia, Arthritis, Inc... |
ORPHA:48435 |
Fryns Syndrome |
|
Ectopic pancreatic tissue, Omphalocele, Aganglionic megacolon, Cleft palate, Duodenal atresia, Me... |
OMIM:229850 |
Mosaic Trisomy 16 |
|
Meckel diverticulum, Small for gestational age, Nasogastric tube feeding in infancy, Gastrostomy ... |
ORPHA:1708 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Feeding difficulties, Hepatosplenomegaly, Esophagitis, Hepatic failure |
ORPHA:541423 |
Multiple Myeloma |
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Hyperproteinemia, Hypercalcemia, Functional abnormality of the gastrointestinal tract, Elevated c... |
ORPHA:29073 |
Pmm2-Cdg |
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High palate, Vomiting, Failure to thrive, Feeding difficulties, Hypogonadotropic hypogonadism, Ab... |
ORPHA:79318 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Carney Triad |
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Nausea and vomiting, Anorexia, Gastrointestinal stroma tumor, Anemia, Gastrointestinal hemorrhage... |
ORPHA:139411 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of the anus, Abnormal rectum morphology, Feeding difficulties |
ORPHA:2556 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Dysphagia, Decreased serum zinc, Iron deficiency anemia, Atrophic scars, Esophageal ulceration, J... |
ORPHA:79408 |
Ethylene Glycol Poisoning |
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Hyperkalemia, Vomiting, Nausea, Gastritis, Hypocalcemia |
ORPHA:31826 |
Diamond-Blackfan Anemia 7 |
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Cleft palate, Esophagitis, Recurrent otitis media |
OMIM:612562 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Hiatus hernia, Esophagitis, Gastroesophageal reflux |
ORPHA:1901 |
Multiple Endocrine Neoplasia Type 4 |
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Parathyroid carcinoma, Pituitary null cell adenoma, Pituitary growth hormone cell adenoma, Esopha... |
ORPHA:276152 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Omphalocele, Cleft palate, Meckel diverticulum, Duodenal atresia, Asplenia, Annular pancreas, Con... |
OMIM:265380 |
Alg9-Cdg |