Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Decreased body weight, Episodic abdominal pain, Abdomina... |
ORPHA:209964 |
Lactose Intolerance, Adult Type |
|
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... |
OMIM:223100 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Diarrhea, T lymphocyto... |
OMIM:608971 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal squamous cell carc... |
ORPHA:424019 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Neoplasm of the colon, Esophageal neoplasm, Gastrointestinal carcinoma, A... |
ORPHA:2869 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Necrotizing enterocolitis, Intestinal ... |
OMIM:619350 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Poor suck, Weight loss, Abnormal esop... |
ORPHA:2198 |
Glycogen Storage Disease Ixb |
|
Increased hepatic glycogen content, Diarrhea, Hepatomegaly |
OMIM:261750 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abnormal enzyme/coenzyme activity, Abdominal pain, Diarrhea,... |
ORPHA:103909 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Diarrhea, Elevated circulating aspartate aminotransfe... |
OMIM:278000 |
Immunodeficiency 48 |
|
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Pneumonia, Absenc... |
OMIM:269840 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Hepatomegaly, Vomiting |
OMIM:605911 |
Carcinoid Syndrome |
|
Episodic abdominal pain, Tricuspid regurgitation, Lack of bowel sounds, Chronic noninfectious lym... |
ORPHA:100093 |
Immunodeficiency 19 |
|
Failure to thrive, Diarrhea, Lymphopenia, Recurrent otitis media |
OMIM:615617 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Intussusception, Volvulus, Iron deficiency anemia, Rectal prolapse, Thromboc... |
OMIM:112200 |
Coproporphyria, Hereditary |
|
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Tachycardia, Vomiting, Increa... |
OMIM:121300 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Bilia... |
ORPHA:79301 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Juvenile Polyposis Syndrome |
|
Failure to thrive, Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcin... |
OMIM:174900 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:613812 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
African Iron Overload |
|
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... |
ORPHA:139507 |
Cystic Fibrosis |
|
Ileus, Exocrine pancreatic insufficiency, Failure to thrive, Pancreatitis, Hepatomegaly, Steatorr... |
OMIM:219700 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Vomiting, Pancytopenia, Hypogonadism, Hepatic s... |
OMIM:617872 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Elevated hepatic transaminase, In... |
OMIM:602347 |
Mantle Cell Lymphoma |
|
Splenomegaly, Anorexia, Abnormality of the gastrointestinal tract, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Abdominal pain, Vomiting, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:601847 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Diarrhea, Esophageal varix, Nausea and vo... |
ORPHA:75234 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Acute colitis, Bloody diarrhea, Pancreatitis, Leukocytosis, Intussusception, Abdominal pain, Peri... |
ORPHA:90038 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Multiple gastric polyps, Intussus... |
OMIM:175200 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis, Feeding difficulties |
OMIM:615595 |
Hemochromatosis, Neonatal |
|
Hepatocellular necrosis, Hepatic failure, Abnormal bleeding, Cirrhosis, Cholestasis, Hepatic fibr... |
OMIM:231100 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Gastroesophageal reflux, Necrotizing ... |
OMIM:201475 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, ... |
OMIM:607765 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:235555 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Pfapa Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Arthritis, Weight loss, Infectious enc... |
ORPHA:42642 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abnormal enzyme/coenzyme activity, Abdominal pain... |
ORPHA:103907 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Hep... |
ORPHA:65682 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Decreased mucosal sucrase-isomaltase activity, Malabsorption, Diarrhea, Abdominal pain |
OMIM:222900 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Failure to thrive, Intractable diarrhea, Small for gestational age, Arthritis, Villous atrophy |
OMIM:613217 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Diarrhea, Vomiting, Feeding difficulties in infancy, Abnormal intestine morpho... |
OMIM:606528 |
Chylomicron Retention Disease |
|
Failure to thrive, Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Acanthocytosis, Elevate... |
ORPHA:71 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Skin rash, Hepatosplenomegaly, Diarrhea, Thrombocy... |
OMIM:618963 |
Juvenile Polyposis Of Infancy |
|
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... |
ORPHA:79076 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Mpi-Cdg |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Dia... |
ORPHA:79319 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Abdominal pain, Anal canal ad... |
ORPHA:424016 |
5-Oxoprolinase Deficiency |
|
Reduced 5-oxoprolinase level, Enterocolitis, Abdominal pain, Diarrhea, Vomiting |
OMIM:260005 |
Ganglioneuroma |
|
Episodic abdominal pain, Multiple intestinal neurofibromatosis, Abnormal rectum morphology, Color... |
ORPHA:251992 |
Trichohepatoenteric Syndrome 2 |
|
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... |
OMIM:614602 |
Colonic Varices Without Portal Hypertension |
|
Colonic varices, Intestinal bleeding |
OMIM:120440 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Microcyt... |
OMIM:618805 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Intestinal malrotation, Abnormal ... |
ORPHA:3032 |
Diarrhea 9 |
|
Failure to thrive, Villous atrophy, Diarrhea |
OMIM:618168 |
Hepatocellular Carcinoma |
|
Hepatomegaly, Diarrhea, Esophageal varix, Weight loss, Poor appetite, Jaundice, Elevated hepatic ... |
ORPHA:88673 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Feeding difficulties ... |
OMIM:231530 |
Morbid Obesity And Spermatogenic Failure |
|
Infertility, Oligospermia, Myocardial infarction, Obesity, Azoospermia, Hepatic steatosis, Hypert... |
OMIM:615703 |
Enteric Anendocrinosis |
|
Malabsorption, Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension |
ORPHA:83620 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Diarrhea, Fa... |
OMIM:211600 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Gastroesophageal reflux, Atrophic muscularis propria, Abdominal pain, Abdominal distention, Hyper... |
ORPHA:298 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Acute hepatic failure, Splenomegaly, Cirrhosis, Peri... |
ORPHA:131 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Intestinal Dysmotility Syndrome |
|
High palate, Failure to thrive, Abdominal distention, Feeding difficulties, Projectile vomiting, ... |
OMIM:620045 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, An... |
ORPHA:100025 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, S... |
ORPHA:95427 |
Cap Polyposis |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Abdominal colic |
OMIM:615863 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Acute hepatic failure, Diarrh... |
ORPHA:71212 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:615285 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegal... |
OMIM:214900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... |
OMIM:619048 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Inflammation of the large intestine, Hematochezia, Weight loss |
OMIM:191390 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase |
OMIM:617093 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Ch... |
OMIM:619164 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Bruising susceptibility, Splenomegaly, Acute hepatic failure, Ci... |
ORPHA:905 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Dysmenorrhea, Splenomegaly, C... |
ORPHA:370 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Diarrhea, Failure to thrive in infancy, Intestinal obstruction, Int... |
ORPHA:388 |
Aggressive Systemic Mastocytosis |
|
Abdominal cramps, Elevated circulating alkaline phosphatase concentration, Maculopapular exanthem... |
ORPHA:98850 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Ele... |
OMIM:617156 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Elevated circulating alkaline phosphatase ... |
ORPHA:79303 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Abnormal bleeding, Diar... |
OMIM:602579 |
Reticular Dysgenesis |
|
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... |
ORPHA:33355 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Failure to thrive in infancy, Skin rash, Splenomegaly |
OMIM:619175 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Hepatomegaly, Recurrent infection of the gastrointestinal tract, Feeding diffi... |
OMIM:613489 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Eosinophilic Gastroenteritis |
|
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Abnormality of ... |
ORPHA:2070 |
Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance |
OMIM:223000 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Osteomyelitis leading to amputation due to slow healing fractures, Reye syndro... |
OMIM:256810 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Diarrhea, Vomiting, Cholestasis, Hepatocellular adenoma, Esophageal varix, Increase... |
ORPHA:264580 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Sinusitis, Skin rash, Otitis media, Diarrhea, Abnormality of th... |
ORPHA:229717 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosp... |
OMIM:619858 |
Progressive Familial Intrahepatic Cholestasis |
|
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Cronkhite-Canada Syndrome |
|
Malabsorption, Hepatomegaly, Abdominal pain, Stomach cancer, Splenomegaly, Anorexia, Cachexia, Di... |
ORPHA:2930 |
Congenital Tufting Enteropathy |
|
Anal atresia, Malabsorption, Cholestatic liver disease, Elevated fecal osmolality, Abnormal large... |
ORPHA:92050 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Hepatic steatosis, Elevated circulating alkaline phosphatase concentrat... |
OMIM:616829 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Abdominal ... |
ORPHA:567983 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... |
OMIM:301045 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Chronic intestinal candidiasis |
OMIM:269650 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Abdominal pain, Diarrhea, Arrhythmia, Myocarditis, Cardiom... |
ORPHA:3386 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Decreased beta-galactosidase activity, Splenomegaly, Vomiting, J... |
OMIM:230350 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... |
OMIM:209950 |
Galactosemia |
|
Failure to thrive, Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding difficulties, Hepatic... |
ORPHA:352 |
Radiation Proctitis |
|
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... |
ORPHA:70475 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, C... |
OMIM:618234 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Hepatomegaly, Lymphopenia, Splenomegaly, Eczema, Diarrhea, Autoimmune thrombocyt... |
OMIM:616100 |
Typhoid |
|
Constipation, Hepatomegaly, Skin rash, Splenomegaly, Abdominal pain, Epistaxis, Diarrhea, Arrhyth... |
ORPHA:99745 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Malabsorption, Leukopenia, Diarrhea, Feeding difficulties in infancy, Neutrope... |
OMIM:229050 |
Autoinflammation With Infantile Enterocolitis |
|
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Diffuse alveolar hemorrhage, Episodic ... |
OMIM:616050 |
Wolman Disease |
|
Hepatomegaly, Abdominal distention, Steatorrhea, Splenomegaly, Hepatic failure, Cachexia, Esophag... |
ORPHA:75233 |
Cog7-Cdg |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Small for gestational age, Hepatosplenomeg... |
ORPHA:79333 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Recu... |
OMIM:618495 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Galactosemia I |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hypergonadotropic hypogonadism, Cirrho... |
OMIM:230400 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Bile Acid Malabsorption, Primary, 1 |
|
Failure to thrive, Steatorrhea, Fat malabsorption, Chronic diarrhea, Increased fecal bile acid |
OMIM:613291 |
Diarrhea 6 |
|
Diarrhea, Abdominal pain |
OMIM:614616 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Elevated circulating aspartate aminotransf... |
OMIM:614582 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension |
OMIM:617068 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Diarrhea, Neutropenia |
OMIM:613501 |
Neuroendocrine Tumor Of The Rectum |
|
Melena, Bloody diarrhea, Bowel urgency, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Melena, Bloody diarrhea, Bowel urgency, Hepatomegaly, Constipation, Abdominal pain, Hypoactive bo... |
ORPHA:100082 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology |
OMIM:251850 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Bloody diarrhea, Duodenal atresia, Lymphopenia, Enterocolitis, Leukocytosis, Jejunal atresia, Int... |
OMIM:243150 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Weight loss, Nausea and vomiting, Jaundice |
ORPHA:79238 |
Adrenomyodystrophy |
|
Constipation, Chronic constipation, Hepatic steatosis |
OMIM:300270 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Hepatomegaly, Diarrhea, Vomiting, Hypogonadism, Gastrointestinal hemorrhage, Weight lo... |
ORPHA:85450 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... |
OMIM:300635 |
Ddost-Cdg |
|
Failure to thrive, Gastroesophageal reflux, Constipation, Elevated hepatic transaminase, Hepatic ... |
ORPHA:300536 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, Diarrhea, B lym... |
OMIM:607594 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Skin rash, Gast... |
ORPHA:44890 |
Familial Pancreatic Carcinoma |
|
Exocrine pancreatic insufficiency, Neoplasm of the liver, Extrahepatic cholestasis, Abdominal pai... |
ORPHA:1333 |
Autosomal Agammaglobulinemia |
|
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... |
ORPHA:33110 |
Amoebiasis Due To Entamoeba Histolytica |
|
Acute colitis, Bloody diarrhea, Elevated circulating alkaline phosphatase concentration, Leukocyt... |
ORPHA:67 |
Neuroendocrine Tumor Of The Colon |
|
Melena, Bloody diarrhea, Bowel urgency, Hepatomegaly, Tricuspid regurgitation, Abdominal pain, Hy... |
ORPHA:100080 |
Immunodeficiency 31C |
|
Lymphopenia, Eczema, Diarrhea, Villous atrophy, Chronic mucocutaneous candidiasis, Autoimmune hem... |
OMIM:614162 |
Patent Ductus Venosus |
|
Congenital portosystemic venous shunt, Decreased liver function, Hepatic steatosis, Persistent pa... |
OMIM:601466 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... |
OMIM:619445 |
Dengue Fever |
|
Petechiae, Hepatomegaly, Cerebral hemorrhage, Skin rash, Abdominal pain, Bruising susceptibility,... |
ORPHA:99828 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Dysphagia, Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Abdominal distention, Intestinal atresia, Steatorrhea, Projectile vomiting, In... |
OMIM:615237 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Diarrhea, Malformation of the hepat... |
OMIM:619849 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Failure to thrive, Hepatomega... |
OMIM:612714 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix, ... |
OMIM:613490 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis, Cardiomyopathy, Feeding difficulties |
ORPHA:26792 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Pulmonic stenosis, Cholestasis, Elevated hepatic tra... |
OMIM:614300 |
Hemochromatosis, Type 4 |
|
Impotence, Hepatomegaly, Cirrhosis, Osteoarthritis, Arrhythmia, Anemia, Hepatic steatosis, Cardio... |
OMIM:606069 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Vomiting, Elevated hepatic transaminase, Decreased carnitine lev... |
OMIM:212140 |
Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... |
OMIM:619463 |
Rabies |
|
Anorexia, Nausea and vomiting, Diarrhea, Sudden cardiac death |
ORPHA:770 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Otitis media, Anorexia, Hepatosplenomegaly, Diarrhea, Eosi... |
ORPHA:169160 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis, Cardiomyopathy |
OMIM:615119 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... |
ORPHA:26790 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Malabsorption, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, Diarrhea, Pulmonary embolism, ... |
OMIM:226300 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Diarrhea, Thrombocytopenia, Elevated hepatic transaminase, Ascites, Anemia, Lymphad... |
ORPHA:858 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Feeding difficulties, Arrhythmia, Vomiting, Increased cir... |
ORPHA:26791 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, ... |
OMIM:619484 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hepatocellular carcinoma, Elevated gamma-glutamyltransferase level, Elevated circul... |
OMIM:603471 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Failure to thrive, Gastroesophageal reflux, Abnormal enzyme/coenzyme ac... |
ORPHA:70472 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Recurrent sinusitis, Recurrent pneumonia, Chronic diarrhea, Recurrent o... |
OMIM:614379 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomyopathy |
OMIM:610717 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Anorexia, Diarrhea, Vomiting, Shock, Neutropenia, Abnormal intestine morphology, Secretory diarrhea |
OMIM:600351 |
Autoimmune Hepatitis |
|
Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing ch... |
ORPHA:2137 |
Immunodeficiency 56 |
|
Failure to thrive, Recurrent otitis media, Recurrent infection of the gastrointestinal tract, Chr... |
OMIM:615207 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Diarrhea, Follicular hyperplasia, Recurrent sinusitis, Recurrent pneu... |
OMIM:240500 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Leukocytosis, Splenomegaly, Abnormal bleeding, Extramedullary hematopoiesis, Hepatospl... |
OMIM:612840 |
Periodic Fever, Familial, Autosomal Dominant |
|
Oligoarthritis, Hepatomegaly, Hepatic amyloidosis, Skin rash, Abdominal pain, Cervical lymphadeno... |
OMIM:142680 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Infertility, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Ar... |
OMIM:602390 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Macrocytic anemia, Elevated hepatic trans... |
OMIM:615438 |
Kaposi Sarcoma |
|
Skin rash, Diarrhea, Abnormality of the gastrointestinal tract, Abnormality of the spleen, Genera... |
ORPHA:33276 |
Primary Myelofibrosis |
|
Petechiae, Leukocytosis, Splenomegaly, Abnormal bleeding, Extramedullary hematopoiesis, Hepatospl... |
ORPHA:824 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, T lymphocytopeni... |
OMIM:601457 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Pulmonary insuff... |
ORPHA:277 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Microvesicular hepatic steatosis, Abdominal pain, Episodic vomiting, Ileoileal... |
OMIM:619377 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Malabsorption, Duodenal atresia, Biliary atresia, Intestinal malrotation, Diarr... |
OMIM:615710 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Diarrhea, B lymphocytopenia, Inflammation of the large i... |
OMIM:618108 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Vomiting, Neonatal death, Nausea, Hepatic periportal necrosis, Hepatic st... |
OMIM:231680 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Abdominal pain, Myeloproliferative disorder, Diarrhea, Abnormality o... |
ORPHA:79456 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Secondary amenorrhea, Hepat... |
OMIM:613313 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Abdominal distention, Diarrhea, Vomiti... |
OMIM:608104 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Pustule, Diarrhea, Vomiting, Recurrent pneumonia, Hypertension |
OMIM:616069 |
Neuroendocrine Tumor Of Stomach |
|
Melena, Bowel urgency, Hepatomegaly, Hepatic failure, Facial telangiectasia, Weight loss, Poor ap... |
ORPHA:100075 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Primary amenorrhea, Hepatic steatosis |
OMIM:612526 |
Plin1-Related Familial Partial Lipodystrophy |
|
Infertility, Oligomenorrhea, Hepatic fibrosis, Hypertension, Hepatic steatosis |
ORPHA:280356 |
Refractory Celiac Disease |
|
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ... |
ORPHA:398063 |
Adrenomyodystrophy |
|
Failure to thrive, Abnormal intestine morphology, Hepatic steatosis |
ORPHA:977 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology |
ORPHA:1332 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Glossoptosis, Abnormality ... |
ORPHA:47 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine, Decreas... |
OMIM:615767 |
Graft Versus Host Disease |
|
Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... |
ORPHA:39812 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Diarrhea, Hepatic cysts, Heart murmur, Facial telangiectasia, Weight loss, Right ve... |
ORPHA:100085 |
Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
Whipple Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cachexia, Diarrhea, Mediasti... |
ORPHA:3452 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Diarrhea, ... |
OMIM:603554 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Classic Galactosemia |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Feeding difficulties, Hepatic failure, Primary a... |
ORPHA:79239 |
Bile Acid Malabsorption, Primary, 2 |
|
Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:619481 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea |
OMIM:614102 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Leigh Syndrome |
|
Hepatocellular necrosis, Failure to thrive |
OMIM:256000 |
Attrv30M Amyloidosis |
|
Impotence, Constipation, Atrioventricular block, Diarrhea, Arrhythmia, Weight loss, Cardiomyopath... |
ORPHA:85447 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Cachexia, Diarrhea, Arrhythmia, Vomiting, Elevated hepati... |
ORPHA:42 |
Acute Liver Failure |
|
Hepatocellular necrosis, Skin rash, Bruising susceptibility, Abnormal bleeding, Intracranial hemo... |
ORPHA:90062 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Diarrhea, Arrhythmia, Feeding difficulties in infancy, Elevated hepatic transaminas... |
OMIM:255120 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Abdominal pain, Peritonitis, Diarrhea, Vasculitis, Arthritis, Intestinal obstructio... |
ORPHA:343 |
Proprotein Convertase 1/3 Deficiency |
|
Malabsorption, Hypogonadotropic hypogonadism, Diarrhea, Primary amenorrhea, Villous atrophy, Obesity |
OMIM:600955 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Constipation, Gastroesophageal reflux, Abdominal pain, Intest... |
ORPHA:263665 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis, Nausea and vomiting, Abnormality of the ly... |
ORPHA:1414 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Abnormality of the lympha... |
ORPHA:54251 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Cirrhosis, Diarrhea, Neonatal death, Cholestasis, Hepatic fibrosis, Jejunal atresia, Microcolon, ... |
OMIM:609313 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Vomiting, Macrovesicular hepatic steatosis, Increased circulating lactate dehydroge... |
OMIM:600649 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Anorexia, Elevated circulating aspartate aminotransferase concentration, Elevated c... |
OMIM:619386 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Villous at... |
OMIM:209920 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Decreased body weight, Episodic abdominal pain, Jaundice, Hepatosplenomegaly, ... |
ORPHA:444490 |
Hemochromatosis Type 4 |
|
Cirrhosis, Hepatic steatosis, Abdominal pain, Congenital hepatic fibrosis |
ORPHA:139491 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:619868 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatocellular necrosis, Decreased mean corpuscular volume, Failure to thrive, Microvesicular hep... |
OMIM:618278 |
Ileal Neuroendocrine Tumor |
|
Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight loss, Extrahepatic cholest... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hepatic failure, Tricuspid stenosis, Small intestine carcinoid, Weight loss, Extrahepatic cholest... |
ORPHA:100077 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cleft palate, Sudden cardiac death, Elevated circulating aspartate aminotransferase... |
OMIM:614921 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... |
OMIM:619802 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Skin rash, Hypoplasia of the thymus, T... |
OMIM:300400 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Hematochezia, Protein-losing enteropathy, Weight loss |
ORPHA:103910 |
Gaucher Disease, Type Ii |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Recurrent aspiration pneumon... |
OMIM:230900 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Failure to thrive, Eosinophilic liver infiltration, Eosinophilia, Hepatosplenomegaly, Atopic derm... |
OMIM:618999 |
Lysosomal Acid Lipase Deficiency |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Steatorrhea, Diarrhea, ... |
ORPHA:275761 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Abdominal pain, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro... |
OMIM:304790 |
Cog4-Cdg |
|
Recurrent infection of the gastrointestinal tract, Elevated circulating alkaline phosphatase conc... |
ORPHA:263501 |
Ebola Hemorrhagic Fever |
|
Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Maculopapular exanthema, Leukopenia, Diar... |
ORPHA:319218 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated circulating aspar... |
OMIM:619658 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Narrow palate, Pleural lymphangiectasia, Erysipelas, Rectal prolapse, Protein-losing enteropathy,... |
OMIM:235510 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Diarrhea, Vomiting |
OMIM:610370 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Failure to thrive, Recurrent bacterial skin infections, Colitis, Recurrent infection of the gastr... |
ORPHA:911 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Cleft palate, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Colitis, Diarrhea, Perioral eczema, Recurrent sinusitis, Recurrent aphthous stomatitis |
OMIM:613960 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Abdominal pain, Anorexia, Cachexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... |
OMIM:175500 |
Sandhoff Disease |
|
Failure to thrive, Hepatomegaly, Congestive heart failure, Splenomegaly |
ORPHA:796 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Ileus, Failure to thrive, Hepatomegaly, Constipation, Feeding difficulties, Splenomegaly, Tachyca... |
OMIM:613327 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Diarrhea, Vomiting, Malnutrition |
OMIM:246700 |
Visceral Myopathy 1 |
|
Constipation, Pancreatitis, Abdominal pain, Abdominal distention, Diarrhea, Megaduodenum, Vomitin... |
OMIM:155310 |
Aa Amyloidosis |
|
Malabsorption, Hepatomegaly, Abdominal pain, Vomiting, Cholestasis, Enlarged kidney, Hypotension,... |
ORPHA:85445 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hepatomegaly, Abdominal pain, Splenomegaly, Cirrhosis,... |
OMIM:235200 |
Ppoma |
|
Cholelithiasis, Hepatomegaly, Constipation, Intestinal carcinoid, Diarrhea, Neoplasm of the small... |
ORPHA:97278 |
Shigellosis |
|
Abdominal cramps, Bloody mucoid diarrhea, Hepatic failure, Vomiting, Cholestasis, Myocarditis, Uv... |
ORPHA:810 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds |
OMIM:606824 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... |
ORPHA:309108 |
Neuroendocrine Neoplasm Of Appendix |
|
Bowel urgency, Hepatomegaly, Constipation, Tricuspid stenosis, Intestinal carcinoid, Heart murmur... |
ORPHA:100079 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormality of the menstrual cycle, Thr... |
ORPHA:721 |
Familial Mediterranean Fever |
|
Pancreatitis, Constipation, Diarrhea, Myocardial infarction, Pericarditis, Malabsorption, Splenom... |
ORPHA:342 |
Citrullinemia Type Ii |
|
Pancreatitis, Hepatomegaly, Delayed menarche, Hepatocellular carcinoma, Diarrhea, Vomiting, Decre... |
ORPHA:247585 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Lymphadenitis, Eczem... |
OMIM:615895 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Dysmenorrhea, Splenomegaly, Cirrhosis, Hepatocel... |
ORPHA:79240 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Splenomegaly, Diarrhea, B lymphocytopenia, Intermittent thrombocytopeni... |
OMIM:150550 |
Sepsis In Premature Infants |
|
Hepatomegaly, Diarrhea, Vomiting, Gastrointestinal dysmotility, Jaundice, Decreased body weight, ... |
ORPHA:90051 |
Immunodeficiency 91 And Hyperinflammation |
|
Failure to thrive, Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopap... |
OMIM:619644 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Recurrent sinusitis, Anemia, Thrombo... |
OMIM:613101 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Diarrhea, Vomiting |
OMIM:614265 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Hepatomegaly, Pulmonary hemorrhage, Diarrhea, Absence of lymph node ge... |
ORPHA:79124 |
Dubowitz Syndrome |
|
High palate, Malabsorption, Eczema, Thrombocytopenia, Abnormality of neutrophils, Rectal prolapse... |
ORPHA:235 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Abdominal distention, Acute hepatic failure, Macr... |
OMIM:613070 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Hypertrophic cardiomyopath... |
ORPHA:330001 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy |
ORPHA:98293 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
High palate, Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hep... |
OMIM:619418 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Acute otitis media, Failure to thrive, Sinusitis, Neutropenia, Neutropenia in presence of anti-ne... |
ORPHA:572 |
Cold Agglutinin Disease |
|
Hepatomegaly, Splenomegaly, Diarrhea, Hemolytic anemia, Nausea and vomiting, Lymphadenopathy |
ORPHA:56425 |
Caspase 8 Deficiency |
|
Failure to thrive, Splenomegaly, Eczema, Chronic diarrhea, Pneumonia, Lymphadenopathy, Decreased ... |
OMIM:607271 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Failure to thrive, Colitis, Eczema, Diarrhea, Inflammation of the large intest... |
OMIM:608809 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Abdominal cramps, Slender build, Malabsorption, Early satiety, Constipation, Abdominal pain, Cach... |
OMIM:603041 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomega... |
ORPHA:79332 |
Boutonneuse Fever |
|
Petechiae, Skin rash, Abdominal pain, Cervical lymphadenopathy, Maculopapular exanthema, Leukopen... |
ORPHA:83313 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Leprechaunism |
|
Failure to thrive, Decreased body weight, Hepatomegaly, Abdominal distention, Enlarged kidney, En... |
ORPHA:508 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Cirrhosis, Primary amenorrhea, Oligomenor... |
ORPHA:79083 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Blepharitis, Bloody diarrhea, Failure to thrive, Pustule, Villous atrophy, Erythroderma, Duodenitis |
OMIM:614328 |
Gaucher Disease Type 2 |
|
Dysphagia, Cardiac arrest, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... |
OMIM:619573 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Tricuspid regurgitation, Sple... |
OMIM:300972 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Oligomenorrhea, Hepatic steatosis |
OMIM:613877 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Elevated circulat... |
ORPHA:30391 |
Microscopic Polyangiitis |
|
Sinusitis, Pancreatitis, Skin rash, Abdominal pain, Subcutaneous hemorrhage, Peritonitis, Diarrhe... |
ORPHA:727 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... |
OMIM:614576 |
Peritoneal Cystic Mesothelioma |
|
Constipation, Dyspareunia, Abdominal distention, Metrorrhagia, Abdominal pain, Peritonitis, Menor... |
ORPHA:168816 |
Combined Saposin Deficiency |
|
Hepatomegaly, Feeding difficulties, Splenomegaly |
OMIM:611721 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Diarrhea, Gout, Hepatocellular adenoma... |
ORPHA:79259 |
Immunodeficiency 85 And Autoimmunity |
|
Oligoarthritis, Tube feeding, Lymphopenia, Eczema, Vomiting, T lymphocytopenia, Villous atrophy, ... |
OMIM:619510 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Neutrophilia, Diarrhea, Elevated total serum tryptase, Weight loss, Lymphadenopathy... |
ORPHA:98849 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Constipation, Orchitis, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain, Peritonitis, Diarr... |
ORPHA:32960 |
Celiac Disease, Susceptibility To, 1 |
|
Infertility, Failure to thrive, Abdominal distention, Abdominal pain, Steatorrhea, Eczema, Diarrh... |
OMIM:212750 |
Dpm1-Cdg |
|
Failure to thrive, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Diarrhea, Elevated hepa... |
ORPHA:79322 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
ORPHA:369840 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Feeding difficulties, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepatic transami... |
ORPHA:541423 |
Grfoma |
|
Cholelithiasis, Hepatomegaly, Constipation, Intestinal carcinoid, Diarrhea, Neoplasm of the thymu... |
ORPHA:97261 |
Primary Lipodystrophy |
|
Angina pectoris, Pancreatitis, Splenomegaly, Cirrhosis, Menometrorrhagia, Hypertension, Hepatic s... |
ORPHA:90970 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Pneumonia, Failure to thrive in infancy, ... |
ORPHA:37042 |
Niemann-Pick Disease, Type A |
|
Failure to thrive, Sea-blue histiocytosis, Hepatomegaly, Constipation, Splenomegaly, Elevated cir... |
OMIM:257200 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Recurrent bacterial skin infections, Failure to thrive, He... |
ORPHA:276 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Gastroesophageal reflux, Feeding difficulties, Intermittent diarrhea, Recurrent aspiration pneumo... |
OMIM:619971 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Majeed Syndrome |
|
Failure to thrive, Malabsorption, Osteomyelitis, Hepatomegaly, Inflammatory abnormality of the sk... |
ORPHA:77297 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Somatostatinoma |
|
Hepatomegaly, Constipation, Steatorrhea, Diarrhea, Neoplasm of the small intestine, Gastrointesti... |
ORPHA:97283 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Hypergonadotropic hypogonadism, Diarrhea, Vomiting,... |
OMIM:212065 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Viral hepatitis, Periportal fibrosis, Abnormal enzyme/coenzy... |
ORPHA:101330 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chronic oral candidiasis,... |
OMIM:240300 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Feeding difficulties in infancy, Elevated hepatic transaminase, Microcytic an... |
OMIM:619013 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Abdominal pain, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenop... |
OMIM:618852 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
B lymphocytopenia, Uveitis, Pneumonia, Pancytopenia, Lymphadenopathy, Colitis, Splenomegaly, Infl... |
OMIM:614700 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Colitis, Splenomegaly, Decreased basophil count, Pancytopenia, Chronic diarrhea,... |
OMIM:618394 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Feeding difficulties, Cachexia, Diarrhea, Vomiting, Weight loss |
OMIM:612075 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Diarrhea, Hematochezia, Thrombocytopenia, Pneumonia, Pancytopenia, Weight loss, Blo... |
OMIM:615846 |
Trimethylaminuria |
|
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Hypertension, Anemia |
OMIM:602079 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic failure |
OMIM:616719 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Hepatic failure, Cirrhosis, Elevated circulating aspartate amino... |
OMIM:615486 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Thymic Aplasia |
|
Decreased proportion of naive T cells, Malabsorption, Eczematoid dermatitis, Recurrent infection ... |
ORPHA:83471 |
Glucagonoma |
|
Hepatomegaly, Constipation, Steatorrhea, Diarrhea, Glossitis, Gastrointestinal hemorrhage, Weight... |
ORPHA:97280 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, High-output congestive heart ... |
ORPHA:231222 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Conjunctivitis, Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutro... |
OMIM:603552 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Dracunculiasis |
|
Skin rash, Diarrhea, Arthritis, Nausea and vomiting, Recurrent cutaneous abscess formation |
ORPHA:231 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Vomiting |
OMIM:201450 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Diarrhea, Hepatomegaly, Skin rash |
OMIM:601979 |
Congenital Disorder Of Glycosylation, Type Ii |
|
High palate, Decreased body weight, Gastroesophageal reflux, Hepatomegaly, Diarrhea, Nasogastric ... |
OMIM:607906 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Porphyria, Acute Intermittent |
|
Paralytic ileus, Constipation, Abdominal pain, Diarrhea, Hepatocellular carcinoma, Vomiting, Tach... |
OMIM:176000 |
Congenital Generalized Lipodystrophy |
|
Amenorrhea, Failure to thrive, Hepatomegaly, Macroglossia, Cirrhosis, Oligomenorrhea, Hypertrophi... |
ORPHA:528 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Diarrhea, Vomiting, Cerebral ischemia, Nau... |
ORPHA:927 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Abdominal pain... |
ORPHA:79312 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Mediastinal lymphadenopat... |
ORPHA:91138 |
Myopathy, Myofibrillar, 1 |
|
Constipation, Restrictive cardiomyopathy, Diarrhea, Third degree atrioventricular block, Dilated ... |
OMIM:601419 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis, Neonatal death |
OMIM:615918 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Diarrhea,... |
ORPHA:549 |
Lassa Fever |
|
Conjunctivitis, Abdominal pain, Abnormal bleeding, Diarrhea, Shock, Menometrorrhagia, Dysphagia, ... |
ORPHA:99824 |
Indolent Systemic Mastocytosis |
|
Abdominal cramps, Abnormal mast cell morphology, Hepatomegaly, Skin rash, Splenomegaly, Maculopap... |
ORPHA:98848 |
Duodenal Neuroendocrine Tumor |
|
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Extrahepatic cholestasis, Righ... |
ORPHA:100076 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Abdominal pain, Abnormal bleeding, Leukopenia, Diarrhea, Tachycardia,... |
ORPHA:91547 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Abnormal bleeding, Intracranial hemorrhage, Diar... |
ORPHA:449285 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux |
OMIM:613177 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... |
ORPHA:3226 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Hepatic failure, Splenomegaly |
ORPHA:664 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Vasculitis in the skin, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss,... |
OMIM:619381 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Failure to thrive in infancy... |
ORPHA:231226 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233710 |
Leishmaniasis |
|
Hepatomegaly, Rhinitis, Splenomegaly, Anorexia, Abnormal bleeding, Leukopenia, Abnormal macrophag... |
ORPHA:507 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Nasogastric tube feeding, Vomiting, Elevated hepatic transaminase, Intermitten... |
ORPHA:289504 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Abdominal pain, Sp... |
ORPHA:465508 |
Congenital Factor X Deficiency |
|
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... |
ORPHA:328 |
Immunodeficiency 14B, Autosomal Recessive |
|
Colitis, Neutrophilia, Leukocytosis, Monocytosis, Inflammation of the large intestine, B lymphocy... |
OMIM:619281 |
Hereditary Mixed Polyposis Syndrome |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Intussusception, Hyperplastic colonic poly... |
ORPHA:157794 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low... |
OMIM:602450 |
Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Hepatomegaly, Feeding difficulties, Left ventricular hypertrophy, Hepatospleno... |
OMIM:619487 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Malabsorption, Sinusitis, Macroglossia, Diarrhea, T lymphocytopenia, Protrudin... |
OMIM:242860 |
Familial Mediterranean Fever |
|
Crohn's disease, Orchitis, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Episodic abdom... |
OMIM:249100 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostomia, Keratoconj... |
OMIM:617321 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Aplasia of the thymus, Abnormally low T ce... |
OMIM:242700 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Constipation, Elevated circulating alkaline phosphatase concentration, Cleft palate, Feeding diff... |
OMIM:239300 |
Primary Ciliary Dyskinesia |
|
Female infertility, Intestinal malrotation, Chronic otitis media, Chronic rhinitis, Male infertil... |
ORPHA:244 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Thyroiditis, Chronic oral candidiasis, Enlarged tonsils, Hepatosplenomegaly, Eczema, B lymphocyto... |
OMIM:606367 |
Bone Dysplasia, Lethal Holmgren Type |
|
Failure to thrive, Hepatomegaly, Diarrhea, Weight loss, Patent ductus arteriosus, Anemia, Hypertr... |
ORPHA:1842 |
Waldenström Macroglobulinemia |
|
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Retinal hemorrh... |
ORPHA:33226 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... |
ORPHA:1572 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hiatus hernia, Abnormal rectum morphology |
ORPHA:101009 |
Immunodeficiency 92 |
|
Osteomyelitis, Hepatomegaly, Lymphocytosis, Leukocytosis, Sclerosing cholangitis, B lymphocytopen... |
OMIM:619652 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Splenomegaly, Anorexia, Bone marrow hypocellularity, Weight loss, Lympha... |
ORPHA:391 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Hepatomegaly, Chronic oral candidiasis, Enlarged tonsils, Splenomegaly, Cirrho... |
OMIM:308230 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Hypertrophic cardio... |
ORPHA:2348 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Abnormal left ventricular function, Hepatomegaly, Small for gestational age, Pulmonic stenosis, L... |
OMIM:301056 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeni... |
OMIM:618935 |
Chronic Granulomatous Disease |
|
Malabsorption, Sinusitis, Hepatomegaly, Splenomegaly, Otitis media, Tracheoesophageal fistula, Ec... |
ORPHA:379 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Failure to thrive, Cerebellar hemorrhage, Acute hepatic failure, Hypertrophic cardiomyopathy, Sud... |
ORPHA:99901 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight loss, Anemia, Lymphadenopathy |
ORPHA:100024 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent bacterial skin infections, Eczematoid dermatitis, Hepatomegaly, Ost... |
OMIM:233690 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanth... |
ORPHA:31205 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte mo... |
ORPHA:39041 |
Hypocomplementemic Urticarial Vasculitis |
|
Small vessel vasculitis, Hepatomegaly, Skin rash, Splenomegaly, Abdominal pain, Diarrhea, Arthrit... |
ORPHA:36412 |
Pediatric-Onset Graves Disease |
|
Keratitis, Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly,... |
ORPHA:525731 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Hep... |
OMIM:615559 |
Mastocytosis |
|
Telangiectasia of the skin, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Arrhythmia, Hypotensi... |
ORPHA:98292 |
Pearson Marrow-Pancreas Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Vomiting, Thromboc... |
OMIM:557000 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Hepatic steatosis |
ORPHA:209919 |
Lipodystrophy, Familial Partial, Type 5 |
|
Irregular menstruation, Hepatic steatosis, Hepatomegaly, Hypertension |
OMIM:615238 |
Mevalonic Aciduria |
|
Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Fluctuating splenomegaly, Leukocy... |
OMIM:610377 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Late-Onset Isolated Acth Deficiency |
|
Failure to thrive, Constipation, Abdominal pain, Anorexia, Orthostatic hypotension, Eosinophilia,... |
ORPHA:199299 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Abdominal pain, S... |
ORPHA:729 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Hepatomegaly, Episodic abdominal pain, Hepatic failure, Arrhythmia, Elevated hepatic transaminase... |
ORPHA:228305 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Supraventricular arrhythmia, Gastroesophageal reflux, Small for gestati... |
ORPHA:2959 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Hepatomegaly, Neutrophilia, Hepatic failure, Hemothorax, Subdural hemorrh... |
ORPHA:99827 |
Monosomy 13Q34 |
|
Metrorrhagia, Pulmonic stenosis, Hematochezia, Obesity, Hepatic steatosis, Epistaxis, Prolonged p... |
ORPHA:96168 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Acute otitis media, Lymphopenia, Recurrent infection of the gastrointestinal tract, Chronic oral ... |
ORPHA:35078 |
Osteopetrosis, Autosomal Recessive 2 |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259710 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Constipation, Abdominal distention, Abdominal pain, Abnormal enzyme/coenzyme activity, Myeloproli... |
ORPHA:100924 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Cirrhosis, Hepatospleno... |
ORPHA:79302 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Classical Ehlers-Danlos Syndrome |
|
Abnormal heart valve physiology, Gastroesophageal reflux, Hiatus hernia, Bruising susceptibility,... |
ORPHA:287 |
Alg1-Cdg |
|
Decreased liver function, Abnormality of the gastrointestinal tract, Protein-losing enteropathy, ... |
ORPHA:79327 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... |
ORPHA:231214 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Increased hepatic glycogen... |
ORPHA:263455 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, ... |
OMIM:619824 |
Congenital Pulmonary Lymphangiectasia |
|
Gastroesophageal reflux, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, ... |
ORPHA:2414 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Bloody diarrhea, Abdominal distention, Intestinal atresia, Intestinal malrotation, Hypoplasia of ... |
ORPHA:436252 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Colitis, Hemophagocytosis, Spl... |
ORPHA:540 |
Pancreatoblastoma |
|
Abdominal distention, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Vomiting, Weight ... |
ORPHA:677 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, B lymphocytopenia, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media, Abno... |
OMIM:612692 |
Necrotizing Enterocolitis |
|
Bloody diarrhea, Abdominal distention, Leukocytosis, Small for gestational age, Peritonitis, Diar... |
ORPHA:391673 |
Neonatal Lupus Erythematosus |
|
Hepatomegaly, Hepatic failure, Maculopapular exanthema, Aplastic anemia, Abnormal electrophysiolo... |
ORPHA:398124 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Anorexia, Leukopenia, Hemolytic anemia, Myocardial i... |
ORPHA:108 |
Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Hepatomegaly, Tricuspid regurgitation, Hepatic failure, Anorexia, Chronic noninfec... |
ORPHA:97287 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia |
OMIM:607685 |
Alg8-Cdg |
|
Failure to thrive, Macroglossia, Feeding difficulties, Small for gestational age, Diarrhea, Abnor... |
ORPHA:79325 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Neu... |
OMIM:616740 |
Hereditary Spherocytosis |
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Spherocytosis, Splenomegaly, Restrictive cardiomyopathy, Extramedullary hematopoiesis, Spontaneou... |
ORPHA:822 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Failure to thrive, Hepatomegaly, Splenomegaly, Diarrhea, Low alkaline phosphatase, Hypogonadism, ... |
OMIM:201100 |
Aicardi-Goutieres Syndrome 4 |
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Hepatomegaly, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transamina... |
OMIM:610333 |
Lipodystrophy, Familial Partial, Type 6 |
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Abdominal obesity, Hypertension, Hepatic steatosis |
OMIM:615980 |
Amyloidosis, Familial Visceral |
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Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Hepatomegaly, Lymphopenia, Sk... |
OMIM:102700 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
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Chronic gastritis, Colitis, Lymphocytosis, Skin rash, Abdominal pain, Diarrhea, Inflammation of t... |
OMIM:301074 |
Immunodeficiency 17 |
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