Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... |
ORPHA:209964 |
Immunodeficiency 104 |
|
Hepatomegaly, Eczema, Pneumonia, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Lymph... |
OMIM:608971 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm... |
ORPHA:424019 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... |
OMIM:605911 |
Peutz-Jeghers Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In... |
ORPHA:2869 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abnormal large intestine morpholo... |
ORPHA:2198 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:c... |
OMIM:121300 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Secretory diarrhea, Vomiting, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Trehalase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Malabsorption, Abdominal d... |
ORPHA:103909 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:278000 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Nausea and vomiting, Tricuspid regurgitation, Chronic noninfectiou... |
ORPHA:100093 |
Immunodeficiency 48 |
|
Hepatomegaly, Failure to thrive, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrh... |
OMIM:269840 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Volvulus,... |
OMIM:112200 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Abnormal bleeding, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Mala... |
ORPHA:79301 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Abdominal pain, Portal vein thrombosis, Hepatic necrosis, Hepatic fibrosis, Vomiting |
ORPHA:33402 |
Cystic Fibrosis |
|
Male infertility, Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bili... |
OMIM:219700 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Episodic vomiting, H... |
OMIM:201475 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Diarrhea, Intermittent jaundice, Elevated c... |
OMIM:601847 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... |
OMIM:175200 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, P... |
OMIM:602347 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Esophageal varix, Cirrhosis,... |
ORPHA:75234 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,... |
ORPHA:90038 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
Hemochromatosis, Neonatal |
|
Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n... |
OMIM:231100 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Intrahepatic cholestasis, Jaundic... |
OMIM:235555 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:52416 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Pfapa Syndrome |
|
Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ... |
ORPHA:42642 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Feeding diff... |
OMIM:251880 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Decreased mucosal sucrase-isomaltase activity, Malabsorption |
OMIM:222900 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... |
OMIM:613217 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d... |
ORPHA:65682 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... |
OMIM:606528 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl... |
ORPHA:424016 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal circulating enzyme concentration or activity, Abnormal small intestinal mucos... |
ORPHA:103907 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
5-Oxoprolinase Deficiency |
|
Abdominal pain, Diarrhea, Enterocolitis, Reduced 5-oxoprolinase level, Vomiting |
OMIM:260005 |
Immunodeficiency 69 |
|
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis... |
OMIM:618963 |
Juvenile Polyposis Of Infancy |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, High... |
ORPHA:79076 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Intestinal malrotation, Abnormal ... |
ORPHA:3032 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Feeding difficulties in infancy, Dilated cardiomyopathy, Hepatic necro... |
OMIM:231530 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated... |
OMIM:618805 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Hypertension, Azoosper... |
OMIM:615703 |
Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Abnormal bleeding, Portal hypertension, Intrahepatic portal v... |
ORPHA:64743 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,... |
OMIM:211600 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot... |
ORPHA:298 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep... |
OMIM:614602 |
Enteric Anendocrinosis |
|
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting |
ORPHA:83620 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... |
ORPHA:131 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Acanthocytosis, Abdominal... |
ORPHA:71 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... |
OMIM:620045 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Prolonged QT interval, Elevated hepatic transaminase, Feeding difficulties... |
ORPHA:71212 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... |
OMIM:619048 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Vomiting, Hepatic ... |
OMIM:617872 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis, Vomiting,... |
ORPHA:264580 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Abnormalit... |
ORPHA:905 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Elevated circ... |
OMIM:214900 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Chronic ... |
ORPHA:33355 |
Aggressive Systemic Mastocytosis |
|
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... |
ORPHA:98850 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Malabsorption, Abdomi... |
ORPHA:2070 |
Immunodeficiency 76 |
|
Splenomegaly, Recurrent pneumonia, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis,... |
OMIM:619164 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Hepatic fibrosis, ... |
OMIM:602579 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Skin rash, Failure to thrive in infancy |
OMIM:619175 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Failure to thrive |
ORPHA:172 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th... |
ORPHA:229717 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Anorexia, Splenomegaly, Abdominal pa... |
ORPHA:2930 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Lactase Deficiency, Congenital |
|
Decreased small intestinal mucosa lactase level, Diarrhea, Lactose intolerance |
OMIM:223000 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties, Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steat... |
OMIM:615119 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchi... |
ORPHA:586 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
Autoinflammatory-Pancytopenia Syndrome |
|
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... |
OMIM:619858 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Vomiting, Failure to... |
OMIM:230350 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... |
ORPHA:44890 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, L... |
ORPHA:100025 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, F... |
OMIM:613489 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Lymph... |
OMIM:209950 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
American Trypanosomiasis |
|
Hepatomegaly, Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pa... |
ORPHA:3386 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nausea, ... |
ORPHA:85450 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Diarrhea, Increased muscle glycogen content, Increased hepatic glycog... |
OMIM:261750 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, A... |
OMIM:616100 |
Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, ... |
ORPHA:99745 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... |
OMIM:618495 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Diffuse alveolar hemorrhage, Feeding... |
OMIM:616050 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Wolman Disease |
|
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... |
ORPHA:75233 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Jaundice, Diarrhea, Hepat... |
ORPHA:79333 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... |
OMIM:243150 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Feeding difficulties |
ORPHA:79238 |
Galactosemia I |
|
Hepatomegaly, Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ... |
OMIM:230400 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Gastroesophageal reflux, Constipation, Failure to thrive, Hepatic ... |
ORPHA:300536 |
Patent Ductus Venosus |
|
Hepatic steatosis, Persistent patent ductus venosus, Decreased liver function, Congenital portosy... |
OMIM:601466 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Increased muscle lipid content, Cardiomyopathy, Hepa... |
OMIM:610717 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, Ar... |
ORPHA:397596 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... |
OMIM:300635 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100082 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Reye s... |
ORPHA:26791 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Hepatiti... |
ORPHA:33110 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi... |
OMIM:612714 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Folate Malabsorption, Hereditary |
|
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... |
OMIM:229050 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Microv... |
OMIM:212140 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Gastric va... |
OMIM:613490 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Abdominal pain, Congestive ... |
ORPHA:67 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-... |
ORPHA:1333 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph... |
ORPHA:100080 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Rabies |
|
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia |
ORPHA:770 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Eczema, P... |
ORPHA:436159 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... |
ORPHA:858 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Failure to thrive, Bleeding requiring red cell transfusion, Intrah... |
OMIM:619484 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Skin rash, Epistaxis, Cerebral he... |
ORPHA:99828 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Gastroesophageal... |
ORPHA:70472 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cardiomyopathy, Failure to thrive, Hepatic steatosis, Feeding difficulties |
ORPHA:26792 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... |
OMIM:619445 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Diarrhea, Hype... |
OMIM:615387 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Impotence, Cirrhosis, Arrhythmia, Hepatic steatosis... |
OMIM:606069 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... |
ORPHA:26790 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis... |
OMIM:240500 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Abnormal bleeding, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatospl... |
OMIM:612840 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Hepato... |
ORPHA:169160 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Failure to thrive, Thrombocytopenia, Cryptorchidism, Patent ductus arteriosus, Abdo... |
OMIM:608104 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... |
OMIM:142680 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Neutropenia in presence of ... |
OMIM:607594 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to... |
OMIM:615438 |
Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Cirrhosis,... |
OMIM:615207 |
Primary Myelofibrosis |
|
Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertensio... |
ORPHA:824 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Splenomegaly, Dilated card... |
OMIM:602390 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... |
ORPHA:39812 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Vomiting, Neonatal death, Hepatic periportal necrosis, Hepatic steatosis,... |
OMIM:231680 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abdominal pain, Abnormality of the pa... |
ORPHA:54251 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... |
ORPHA:33276 |
Refractory Celiac Disease |
|
Elevated hepatic transaminase, Normocytic anemia, Villous atrophy, Macrocytic anemia, Elevated al... |
ORPHA:398063 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... |
ORPHA:79456 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Abdominal distention, Portal fibr... |
ORPHA:369 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Diarrhea, Abnormal lactate d... |
ORPHA:42 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hepatic fibrosis, Infertility, Oligomenorrhea, Hepatic steatosis |
ORPHA:280356 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Biliary atr... |
OMIM:615710 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocyto... |
OMIM:618108 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree... |
OMIM:617021 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Secondary am... |
OMIM:613313 |
Immunodeficiency, Common Variable, 11 |
|
Mucoid diarrhea, Decreased proportion of class-switched memory B cells, Inflammation of the large... |
OMIM:615767 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis, Abnormal intestine morphology |
ORPHA:977 |
Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... |
ORPHA:100075 |
Leigh Syndrome |
|
Failure to thrive, Hepatocellular necrosis |
OMIM:256000 |
Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Lymphadenopathy, Abnormal liver parenchyma morphology, Dysphagia |
ORPHA:1332 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Impotence, Constipat... |
ORPHA:85447 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Hepatic steatosis |
ORPHA:210548 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Elevated gamma-glutamyltransferase level,... |
ORPHA:53035 |
Glycoprotein Storage Disease |
|
Splenomegaly, Gout |
OMIM:232900 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Sandhoff Disease |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Abnormal glycosphingolipid metabolism, Fail... |
ORPHA:796 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph... |
ORPHA:277 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... |
ORPHA:263665 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspart... |
OMIM:614921 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Intestinal obstruction, Pulmonary embolism, Malabsorption, Abdominal pain, Diarrhea... |
OMIM:226300 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Malabso... |
ORPHA:3452 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, V... |
ORPHA:343 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... |
OMIM:601457 |
Acute Liver Failure |
|
Abnormal bleeding, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, ... |
ORPHA:90062 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Portal hypertension, Abdominal pa... |
ORPHA:1414 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R... |
OMIM:300400 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Macrovesicular hepatic st... |
OMIM:618234 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... |
ORPHA:275761 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus, Mi... |
OMIM:609313 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Rectal prolapse, Pulmonar... |
OMIM:235510 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hypertension, Pancreatitis, Hepatic steatosis |
ORPHA:79084 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated circulating ala... |
OMIM:619386 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Failure to thrive, Anisocytosis, Cardiomegaly, M... |
OMIM:618278 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Feeding difficulties |
OMIM:611721 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated gamma-glutamyltransferase lev... |
ORPHA:100085 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... |
OMIM:304790 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Obesity, Primary amenorrhea |
OMIM:600955 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Obesity |
OMIM:620195 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intest... |
ORPHA:100078 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Abdominal pain |
OMIM:118830 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Tachycardia, Atrial fibrillat... |
OMIM:613327 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Eosinophilia, Atopic dermatitis, Hepatosplenomegaly, Membranous ... |
OMIM:618999 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, H... |
OMIM:613177 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... |
OMIM:616622 |
Ebola Hemorrhagic Fever |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor... |
ORPHA:319218 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumonitis, Increa... |
OMIM:127550 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Eosinophilia, Pneumo... |
ORPHA:911 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy |
ORPHA:86893 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Hamartomat... |
OMIM:175500 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis... |
OMIM:155310 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
Aa Amyloidosis |
|
Hepatomegaly, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Cholestasis, Vomitin... |
ORPHA:85445 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties |
OMIM:620270 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Recurrent pneumonia, Ne... |
OMIM:150550 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties in infan... |
OMIM:613070 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Villous atrophy, Autoim... |
OMIM:614162 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
Shigellosis |
|
Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C... |
ORPHA:810 |
Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... |
ORPHA:100079 |
Dubowitz Syndrome |
|
Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap... |
ORPHA:235 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Abdomin... |
OMIM:235200 |
Sepsis In Premature Infants |
|
Gastrointestinal dysmotility, Vomiting, Neutropenia, Abnormal bleeding, Hepatomegaly, Leukocytosi... |
ORPHA:90051 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... |
OMIM:617638 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
B4Galt1-Cdg |
|
Abnormal bleeding, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated ... |
ORPHA:79332 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Abdominal pain, Congestive heart failure, Ly... |
OMIM:615895 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Myocardial infarction, Osteoarthritis, Gastrointestinal infarctions, Abdom... |
ORPHA:342 |
Caspase 8 Deficiency |
|
Failure to thrive, Pneumonia, Eczema, Splenomegaly, Chronic diarrhea, Lymphadenopathy, Decreased ... |
OMIM:607271 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdomin... |
OMIM:212750 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Hepatic fibrosi... |
ORPHA:247585 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Epistaxis, Abnormality of the menstrual cycle, Splenomegaly, Bruising suscepti... |
ORPHA:721 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife... |
OMIM:619644 |
Familial Chylomicronemia Syndrome |
|
Nausea and vomiting, Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosp... |
ORPHA:444490 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97278 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... |
ORPHA:79124 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, ... |
ORPHA:330001 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... |
ORPHA:3111 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Colitis, Hemophagocytosis, Recurrent s... |
OMIM:613101 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Boutonneuse Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Abdominal pain, Thrombocytopen... |
ORPHA:83313 |
Sandhoff Disease, Juvenile Form |
|
Reduced beta-hexosaminidase activity, Diarrhea, Constipation, Dysphagia, Failure to thrive |
ORPHA:309162 |
Immunodeficiency 19 |
|
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... |
OMIM:615617 |
Hemoglobin H Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Neonatal death, Hepatic steatosis |
OMIM:615918 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Abnormal T cell morphology, Absent circulating B cells, Neutropenia, Recurrent otitis m... |
OMIM:613501 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Diarrhea, Hepatosplenomegaly, H... |
ORPHA:79322 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Dysmenorrhea, Congestive heart failure, Splenomegaly, Secondary amenorrhea, Primary... |
ORPHA:79083 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Normocytic anemia, Tricuspid regurgitation, Accessor... |
OMIM:300972 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Patent ductus arteriosus, Hepatic steatosis, Obesity |
OMIM:615996 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Atreti... |
ORPHA:30391 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Secretory diarrhea, Elevated gamma-glutamyltransferase level... |
OMIM:619573 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Hepat... |
ORPHA:79259 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Failure to thrive, Blepharitis |
OMIM:614328 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Splenomegaly, Diarrhea, Lymphadenopathy |
ORPHA:56425 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... |
OMIM:619375 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Hepatic fib... |
ORPHA:541423 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Decreased body... |
ORPHA:508 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Vomi... |
ORPHA:37042 |
Congenital Macroglossia |
|
Macroglossia, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Splenomegaly, Paten... |
OMIM:614576 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... |
OMIM:603554 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly, Cardiac arrest, Dysphagia |
ORPHA:77260 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
Immunodeficiency 85 And Autoimmunity |
|
Tube feeding, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthr... |
OMIM:619510 |
Peritoneal Cystic Mesothelioma |
|
Dyspareunia, Metrorrhagia, Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Menorr... |
ORPHA:168816 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... |
OMIM:257200 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hepatic steatosis, Oligomenorrhea |
OMIM:613877 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased fecal harderoporphyrin, ... |
OMIM:618892 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Hepatic steatosis |
OMIM:608709 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... |
ORPHA:98849 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... |
ORPHA:231222 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Intestinal obstruction, Fasciitis, Myositis, Skin rash, Abdominal pain, Orchitis, S... |
ORPHA:32960 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Vomiting |
OMIM:201450 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Premature ovarian ins... |
OMIM:212065 |
Majeed Syndrome |
|
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... |
ORPHA:77297 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneum... |
ORPHA:83471 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacteria... |
ORPHA:276 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Premature ovarian insufficiency, Female hypogonadis... |
OMIM:240300 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lymphocytosis |
ORPHA:79087 |
Porphyria, Acute Intermittent |
|
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep... |
OMIM:176000 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Microcytic anemia, Feeding difficulties in infancy, Hepatosplenome... |
OMIM:619013 |
Immunodeficiency 60 And Autoimmunity |
|
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Decrea... |
OMIM:618394 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Chilblains, Splenomegaly, Feeding difficulties, Thrombocytopenia |
OMIM:615010 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Cerebra... |
ORPHA:927 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... |
OMIM:614700 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Feeding difficulties in i... |
OMIM:301056 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hepatomegaly... |
OMIM:615846 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... |
OMIM:618852 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... |
OMIM:601419 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Splenomegaly, Feeding difficulties, ... |
ORPHA:79312 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Skin rash, Thrombocytopenia, Jaundice, Splenomegaly, Lymphadenopathy, Conjunctiviti... |
OMIM:603552 |
Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... |
ORPHA:449285 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Hepatomegaly, Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Decreased b... |
OMIM:607906 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
Relapsing Fever |
|
Abnormal bleeding, Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Abdominal... |
ORPHA:91547 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... |
ORPHA:97283 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Diarrhea, Vasculitis, Skin rash |
OMIM:601979 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis, Hepatic failure |
ORPHA:664 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Macroglossia, Oligomenorrhea, Cirrhosis, Hypertrophic car... |
ORPHA:528 |
Lassa Fever |
|
Abnormal bleeding, Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Jaundice, Diarrh... |
ORPHA:99824 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, ... |
OMIM:242700 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Vomiting, Intermittent diarrhea, Failure to thrive, Nasogastric tu... |
ORPHA:289504 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... |
OMIM:619381 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Mediastinal lymphaden... |
ORPHA:91138 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur... |
ORPHA:231226 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Elevated circu... |
OMIM:239300 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Hepatomegaly, Prolonged bleeding time, Abnormal neutrophil count, Splenomega... |
ORPHA:3226 |
Lynch Syndrome |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Jaundice, Splenomegaly,... |
ORPHA:549 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Absence of lymph nod... |
OMIM:308230 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectas... |
OMIM:242860 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Recurrent pneumonia, Chronic diarrhea, Monocytosis, Inflammation of t... |
OMIM:619281 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... |
ORPHA:97280 |
Primary Ciliary Dyskinesia |
|
Male infertility, Intestinal malrotation, Female infertility, Asplenia, Bronchiectasis, Chronic s... |
ORPHA:244 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hemolytic anemia, Acute pancreatitis, ... |
OMIM:619487 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Lymphadenopathy, Increased propor... |
ORPHA:98848 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Dysmenorrhea, Splenomegaly, Congestive heart failure, Secondary amenorrhea, Hypertr... |
ORPHA:2348 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... |
OMIM:617093 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis |
ORPHA:66661 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, P... |
OMIM:249100 |
Leishmaniasis |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Pancytopenia, Abnormal macrophage... |
ORPHA:507 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+... |
OMIM:606367 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Mevalonic Aciduria |
|
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Failure to thrive in inf... |
OMIM:610377 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Normocytic anemia, Epistaxis, Abnormality of neutrophi... |
ORPHA:33226 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... |
ORPHA:79327 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... |
ORPHA:465508 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Recurrent pneumonia, Secretory diarrhea, Hypertension, Vomiting, Failure to thrive |
OMIM:616069 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphadenopathy, Weight loss, Bon... |
ORPHA:391 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Episodic abdominal pain, Cardiomyopathy, Reduced car... |
ORPHA:228305 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abdominal pain, Patent ductus arteriosu... |
ORPHA:589821 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, V... |
ORPHA:79455 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Hepatomegaly, Patent ductus arteriosus, Diarrhea, Weight loss, Hypertrophic ... |
ORPHA:1842 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Episcleritis, Atrial fibrillation, Nausea and vomiti... |
ORPHA:525731 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Chronic dia... |
ORPHA:39041 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... |
OMIM:619652 |
Alg8-Cdg |
|
Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Failure to thrive, Smal... |
ORPHA:79325 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Diarrhea, In... |
ORPHA:263455 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... |
ORPHA:729 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertension, Hepatic steatosis, Irregular menstruation |
OMIM:615238 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Nausea and vomi... |
ORPHA:440437 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Hepatomegaly, Nausea and vomiting, Skin rash, Abdominal pain, Splenomegaly, Diarrhe... |
ORPHA:36412 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, My... |
ORPHA:31205 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Prolonged prothrombin t... |
OMIM:614300 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Immunodeficiency 46 |
|
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Conjunctivitis, Chronic oral candid... |
OMIM:616740 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of neutrophils, Malabsorption, Pylori... |
ORPHA:379 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Premature ovarian insufficiency, Hypergo... |
ORPHA:2959 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno... |
ORPHA:398124 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Poor appetite, Splenomegaly, Diarrhea, Low alkaline phosphatase, Hypogonadism, Fail... |
OMIM:201100 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... |
OMIM:557000 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Macrocytic anemia, Premature ova... |
ORPHA:199299 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... |
ORPHA:436252 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Dyspareunia, N... |
ORPHA:36426 |
Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomegaly, Gastroesophageal r... |
ORPHA:2414 |
Monosomy 13Q34 |
|
Metrorrhagia, Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, He... |
ORPHA:96168 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Elevated... |
OMIM:615381 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Weight loss, Abnormal lymph node morpho... |
ORPHA:677 |
Classical Ehlers-Danlos Syndrome |
|
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Osteoarthritis,... |
ORPHA:287 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi... |
ORPHA:231214 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Malakoplakia |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Abnor... |
ORPHA:556 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Thrombocytopenia... |
ORPHA:540 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy |
OMIM:607685 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Vasculitis, Recurrent pneumonia, Decreased mean platelet vol... |
OMIM:617718 |
Immunodeficiency 17 |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positi... |
OMIM:615607 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Fail... |
ORPHA:247598 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomega... |
ORPHA:158057 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Increased fecal coproporphyrin 3, Abdomina... |
ORPHA:100924 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Bloo... |
ORPHA:391673 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Sple... |
OMIM:618935 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... |
OMIM:263300 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogona... |
OMIM:203800 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feed... |
OMIM:610333 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Iron defic... |
OMIM:301074 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Ch... |
ORPHA:99827 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... |
ORPHA:90045 |
Amyloidosis, Familial Visceral |
|
Hepatomegaly, Skin rash, Splenomegaly, Cholestasis, Hypertension |
OMIM:105200 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Pneumonia, Right ve... |
ORPHA:97287 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... |
ORPHA:1572 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
Maculopapular Cutaneous Mastocytosis |
|
Abdominal pain, Diarrhea, Vomiting, Elevated total serum tryptase, Nausea |
ORPHA:79457 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... |
ORPHA:2929 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... |
OMIM:253260 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras... |
ORPHA:35078 |
Williams Syndrome |
|
Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroesophageal reflux, Chronic otitis med... |
ORPHA:904 |
Babesiosis |
|
Nausea and vomiting, Hepatomegaly, Hemolytic anemia, Myocardial infarction, Anorexia, Congestive ... |
ORPHA:108 |
Mirage Syndrome |
|
Hypergonadotropic hypogonadism, Thrombocytopenia, Esophageal stricture, Cryptorchidism, Patent du... |
OMIM:617053 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diar... |
OMIM:233600 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive, Cardiomegaly, Congestive heart failure, Splenomegaly, Vacuolated... |
OMIM:269920 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Skin rash, Poor appe... |
ORPHA:542323 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Thrombocyto... |
ORPHA:324636 |
Abetalipoproteinemia |
|
Abnormal bleeding, Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Cardiomegaly, Ac... |
ORPHA:14 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Hepatomegaly, Failure to thrive, Diarrhea, Neutropenia, Prolonged prothrombin ... |
OMIM:617941 |
Lipodystrophy, Familial Partial, Type 3 |
|
Primary amenorrhea, Hypertension, Oligomenorrhea, Cirrhosis, Hepatic steatosis |
OMIM:604367 |
Immunodeficiency 15B |
|
Chronic diarrhea, Monocytosis, Chronic oral candidiasis, Failure to thrive, Reduced natural kille... |
OMIM:615592 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hepatomegaly, Hepatic steatosis, Hypertension |
ORPHA:363400 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252920 |
Glutaric Aciduria Iii |
|
Diarrhea, Hypertension, Vomiting, Reduced peroxisomal glutaryl-CoA oxidase activity, Failure to t... |
OMIM:231690 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Hepatit... |
ORPHA:391487 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... |
ORPHA:348 |
Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... |
OMIM:248360 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Portal hypertension, Splenomegaly, Esophageal varix, Hepatic fibrosis |
OMIM:616589 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Raynaud phenomeno... |
ORPHA:93552 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Skin rash, Abdominal pain, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthrit... |
OMIM:611762 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypogonadism, Constipat... |
ORPHA:163746 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... |
ORPHA:2538 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Wilson Disease |
|
Acute hepatic failure, Osteoarthritis, Vomiting, Hepatic steatosis, Hepatomegaly, Hemolytic anemi... |
OMIM:277900 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Eczema, Rectal prolapse, Obesity, Feeding difficulties, Gastroesophageal reflux, High palate, Fai... |
OMIM:617157 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... |
ORPHA:464321 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, In... |
ORPHA:3260 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Recurrent skin infections, Abdo... |
ORPHA:486 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarr... |
OMIM:260920 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia |
ORPHA:231393 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis, Oligomenorrhea |
ORPHA:435651 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Abnormal lactate dehydrogenase ... |
ORPHA:54057 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventri... |
OMIM:212138 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Vomiting, N... |
ORPHA:2552 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Feeding difficulties in infancy, Acute hepatic steatosis, Failure to thrive, Vomiting |
OMIM:210200 |
Lujo Hemorrhagic Fever |
|
Fulminant hepatitis, Odynophagia, Leukopenia, Vomiting, Ecchymosis, Nausea, Maculopapular exanthe... |
ORPHA:319213 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim... |
ORPHA:331206 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Feeding difficulties, Cardiomyopathy, Stillbirth, Decreased liver function, Neonata... |
OMIM:614922 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Failure to thrive in infancy, Portal hypertension, Celiac disease, Feeding d... |
OMIM:194050 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym... |
OMIM:603909 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Feeding difficulties in infancy, ... |
ORPHA:98813 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Hypotension, Arrh... |
ORPHA:188 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Conjunctivitis, B lymphocytopenia, Rec... |
OMIM:612692 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Thrombocytop... |
OMIM:170100 |
Satoyoshi Syndrome |
|
Diarrhea, Amenorrhea, Malabsorption |
OMIM:600705 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Increased circulating myelocyte count, Vomiting, Ecchymosis, Infe... |
ORPHA:36234 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Pancytopenia, Aplastic anemia, Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Le... |
OMIM:613989 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros... |
ORPHA:171 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Arthritis, ... |
ORPHA:36397 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Dysphagia |
OMIM:252930 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Cardiac arrest, Anorexia, Reye s... |
ORPHA:20 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... |
ORPHA:33577 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhy... |
ORPHA:352447 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Decreased iduronate sulfatase level, Intestinal pseudo-obstruction, Congestive hear... |
OMIM:309900 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Microcolon, Intestinal malrotation, Portal hypertension |
OMIM:619431 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Leukocytosis, Vasculitis, ... |
OMIM:617099 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Thrombocytopenia, Micronodular cirrhosis, ... |
OMIM:606003 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Arthritis, Anemia |
ORPHA:37748 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Nausea, Abdominal pain,... |
OMIM:229600 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Bronchiectasis, Macroglossia, Recurrent otitis... |
OMIM:618523 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Oligomenorrhea |
ORPHA:79085 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased beta-glucocerebrosidase level, Decreased body... |
OMIM:231000 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Myocardial infarction, High palate, Failure to thrive, Hepatic steatosis, Pancreatitis |
OMIM:236200 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Vomiting, H... |
OMIM:619525 |
Fanconi Anemia, Complementation Group O |
|
Neonatal death, Cryptorchidism, Rectal atresia, Anal atresia |
OMIM:613390 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukope... |
OMIM:619991 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Pancytopenia, Failure to thrive, Small for gestational age, Intest... |
OMIM:613658 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhe... |
OMIM:620233 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage, Sti... |
ORPHA:85212 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Abdominal pain, Splenomegaly, Lymphadeno... |
ORPHA:85414 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... |
ORPHA:2290 |
Plague |
|
Glossitis, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pneumonia, Inf... |
ORPHA:707 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocytopenia, Splenomegaly, ... |
ORPHA:100026 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... |
OMIM:613385 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Arrhythmia, Skin rash, Diarrhea |
ORPHA:29822 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... |
OMIM:226990 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Abdominal pain, Congestive heart failure, Diarrhea, Hep... |
ORPHA:454836 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Aregenerative Anemia |
|
Pancytopenia, Fatigable weakness of skeletal muscles, Erythroid hypoplasia, Reticulocytopenia, De... |
ORPHA:101096 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent sinusitis, Recurrent aphthous s... |
OMIM:613960 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, B lymphocytopenia, Rectal abscess, Conjunc... |
OMIM:601495 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Esophageal varix,... |
OMIM:263200 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Mucopolysaccharidosis, Type Iiia |
|
Splenomegaly, Hepatomegaly, Diarrhea, Asymmetric septal hypertrophy |
OMIM:252900 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Lymphadenopathy, Macroglossia, Glossitis |
ORPHA:2221 |
Pearson Syndrome |
|
Abnormality of the liver, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocytosis, Chronic ... |
ORPHA:699 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Prolonged bleeding time, Gastritis, Hemo... |
ORPHA:809 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pain, Chronic di... |
ORPHA:90362 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Diarrhea, Increased body weight |
ORPHA:94086 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positiv... |
ORPHA:169154 |
Methanol Poisoning |
|
Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ... |
ORPHA:31825 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... |
ORPHA:49827 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Heart block, High, narrow palate, Hepatic calcification, Renal tubula... |
ORPHA:228308 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... |
ORPHA:261529 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Failure to thrive, Premature ovarian insufficiency, Poor suck, Female infertility |
OMIM:619518 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Lipogranulomatosis, Arthritis, Decreased acid ceramidase activity, Fa... |
OMIM:228000 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Failure to thrive in infancy, Feeding difficulties in infancy, Congestiv... |
ORPHA:746 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, A... |
ORPHA:2088 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... |
ORPHA:99826 |
Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Chroni... |
OMIM:268800 |
Syndromic Diarrhea |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastrit... |
ORPHA:84064 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... |
ORPHA:545 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... |
OMIM:611126 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... |
OMIM:301068 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis |
OMIM:615947 |
Immunodeficiency, Common Variable, 7 |
|
Splenomegaly, Chronic diarrhea |
OMIM:614699 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Pyloric stenosis, Jaundice, Splenomegaly, Hepatitis, Ly... |
ORPHA:381 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Nausea, Protein avoidance, Thrombocytopenia, Splenomegaly, Malnutrition, Diarrhea, ... |
OMIM:222700 |
Brucellosis |
|
Liver abscess, Anorexia, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Vomiting, Inf... |
ORPHA:1304 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Pyoderma, Conjunctivitis, Ab... |
OMIM:307200 |
Sea-Blue Histiocytosis |
|
Abnormal bleeding, Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue h... |
ORPHA:158029 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Patent ductus arteriosus, Rectal atresia, ... |
OMIM:115470 |
Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Vomiting, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic cardiom... |
ORPHA:436271 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ... |
OMIM:276700 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... |
OMIM:615122 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Transcobalamin Ii Deficiency |
|
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,... |
OMIM:275350 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Nausea and vomiting, Anorexia, Malabsorption, Poor appeti... |
ORPHA:97282 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation, Palpitations |
OMIM:133020 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... |
OMIM:615234 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... |
ORPHA:848 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Fetal ascit... |
OMIM:261515 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Feeding difficulties, Prolonged prothrombin time, Bile duct prolif... |
OMIM:618329 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Splenomegaly, Recurrent pn... |
ORPHA:47612 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Nausea, Abdominal pain, Abdominal diste... |
ORPHA:469 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive |
OMIM:264350 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Elevated circu... |
OMIM:301500 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Congestive he... |
OMIM:617156 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Abdominal pain, Raynaud phe... |
OMIM:615688 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Diar... |
ORPHA:913 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymph... |
OMIM:308240 |
Acquired Idiopathic Sideroblastic Anemia |
|
Abnormal bleeding, Hepatomegaly, Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia ... |
ORPHA:75564 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Elevated circulating alkaline phosphatase concentration, Hepatic steatosis, Conge... |
ORPHA:52430 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... |
OMIM:600802 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Abnormal bleeding, Giant cell hepatitis, Elevated hepatic transaminase, Small for gestational age... |
OMIM:208085 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Splenomegaly, Anemia, Interstitial pneumonitis, Vasculitis in the skin, Petechiae, ... |
OMIM:620296 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Cryptorchidism, Obesity, Cleft palate, Mitral regurgitation, Arrhythmia, He... |
ORPHA:254346 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Pustule, Recurrent skin i... |
ORPHA:793 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Hemorrhagic Fever-Renal Syndrome |
|
Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis, Vomiti... |
ORPHA:340 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:1267 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Thrombocytopenia, Diarrhea, Capillary leak, Protracted diarrhea,... |
OMIM:615758 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Failure to thrive, Hepatic stea... |
OMIM:616263 |
Griscelli Syndrome Type 2 |
|
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... |
ORPHA:79477 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age |
ORPHA:293964 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... |
ORPHA:2575 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Congestive heart failure, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Pate... |
OMIM:617303 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Cardiomyopathy, Abn... |
ORPHA:98907 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Pustule, Poor appetite, Chronic diarrhea, Cheilitis, Furrowed tongue, We... |
ORPHA:37 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, B lymphocytopenia, High palate, Pneumonia |
OMIM:614069 |
Muckle-Wells Syndrome |
|
Episcleritis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Vasculitis, Uveitis, Arthrit... |
ORPHA:575 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... |
ORPHA:309031 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Cardiomyopathy, Rhinitis |
ORPHA:93476 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Good Syndrome |
|
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... |
ORPHA:169105 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab... |
ORPHA:93111 |
Hyperprolinemia Type 2 |
|
Abnormal circulating enzyme concentration or activity, Abdominal pain, Diarrhea, Feeding difficul... |
ORPHA:79101 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:228371 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... |
OMIM:301000 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, T... |
OMIM:617591 |
Ciliary Dyskinesia, Primary, 37 |
|
Chronic rhinitis, Bronchiectasis, Female infertility |
OMIM:617577 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Feeding difficulties, Leukopeni... |
OMIM:616271 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Feeding difficulties, Cardiomyopathy, Bone marrow hypocellularity,... |
ORPHA:445038 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Acute colitis, Pneumonia, Nausea, Abdominal pain, Intestinal perforation, Myoca... |
ORPHA:544482 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Chilblains, Feeding difficulties in infancy, Thrombo... |
OMIM:225750 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Abnormal bleeding, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, Bruising suscept... |
ORPHA:231401 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
Coffin-Lowry Syndrome |
|
Rectal prolapse, Narrow palate, Mitral regurgitation, High palate, Decreased body weight |
OMIM:303600 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Oligomenorrhea |
ORPHA:435660 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss, Bronchiectasis, Lymphadenopathy |
ORPHA:411703 |
Yellow Fever |
|
Vomiting, Nausea, Internal hemorrhage, Abnormal bleeding, Neutrophilia, Elevated circulating aspa... |
ORPHA:99829 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Thrombocytopenia, Jaundice, Splenomegaly, Patent duc... |
OMIM:251290 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Congestive heart failure, Jaundice,... |
ORPHA:2331 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dysmenorrhea, Co... |
ORPHA:280365 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... |
ORPHA:251380 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties, Esophagitis, Achalasia, Hepati... |
OMIM:615356 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Diarrhea, T lymphocytopenia, B lympho... |
OMIM:619313 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Peritonitis, Patent ductus arteriosus, Pyelonephritis, Bidir... |
OMIM:619351 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Feeding difficulties, Vomiting, Hypotension, Failure to thrive |
OMIM:177735 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong... |
ORPHA:90308 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count |
OMIM:609981 |
Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Neutropenia, Recurrent otitis m... |
OMIM:617475 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Decreased testicular size, Tachycardia, Internal hemorrhage, Splenic rupture, ... |
ORPHA:335 |
Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... |
ORPHA:29207 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Decreased mitochondrial complex III activity in liver tissue, Chol... |
OMIM:124000 |
Reynolds Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Spl... |
OMIM:613471 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Decreased proportion of transiti... |
ORPHA:331235 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Acne, Abd... |
ORPHA:117 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Angina pectoris, Obesity, Gout, Hepatic steatosis |
ORPHA:412 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abnormal circulating enzyme concentration or activity, Tachycardia, Abdomina... |
ORPHA:79276 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive, Petechiae |
ORPHA:51188 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Abnormal abdomen morphology, Sp... |
OMIM:216360 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, High palate, Decreased liver function, Increased intra... |
OMIM:220110 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Abnormal cardiovascular system physiology, Hypertension, Cardio... |
ORPHA:79086 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Hepatomegaly, Villous atrophy, Failure to thrive, Small for gestational age... |
OMIM:222470 |
Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hepatomegaly, Elevated hepatic transaminase, Gout, Hypertension, Protuberant a... |
OMIM:232200 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Irregular menstruation, Increased body weight, Hypertension, Abdominal obesity, Abnormal li... |
ORPHA:189427 |
Listeriosis |
|
Liver abscess, Granulomatosis, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephalitis, ... |
ORPHA:533 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Congestive heart failure, Splenomegaly, Anemia |
ORPHA:163596 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac... |
OMIM:224120 |
Q Fever |
|
Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious... |
ORPHA:781 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Feeding difficulties |
OMIM:616672 |
Agammaglobulinemia, X-Linked |
|
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bronchiectasi... |
OMIM:300755 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E... |
ORPHA:731 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Gastroesophageal reflux, Protuberant ab... |
OMIM:230900 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Abnormal erythrocyte morph... |
ORPHA:766 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Bronchiectasis |
OMIM:619446 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Leptospirosis |
|
Nausea and vomiting, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, ... |
ORPHA:509 |
Scrub Typhus |
|
Abnormal bleeding, Anterior uveitis, Nausea and vomiting, Skin rash, Abdominal pain, Myocarditis,... |
ORPHA:83317 |
Cimdag Syndrome |
|
Hepatomegaly, Microvesicular hepatic steatosis, Feeding difficulties, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... |
ORPHA:333 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Gastroesophageal reflux, Vomiting, Hepatic steatosis, Bifid uvula, ... |
OMIM:270400 |
Acute Radiation Syndrome |
|
Abnormal bleeding, Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Interstitial p... |
ORPHA:454831 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
Lysinuric Protein Intolerance |
|
Leukopenia, Tubulointerstitial nephritis, Vomiting, Abnormal bleeding, Hepatomegaly, Hepatospleno... |
ORPHA:470 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Decreased fertility in females, Cryptorchidis... |
OMIM:210900 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Thrombocytopenia, Splenomega... |
ORPHA:77259 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension,... |
ORPHA:134 |
Immunodeficiency 36 With Lymphoproliferation |
|
Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leukemia, Inc... |
OMIM:616005 |
Addison Disease |
|
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Premature ovarian insufficiency,... |
ORPHA:85138 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdomina... |
ORPHA:361 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... |
OMIM:257220 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... |
ORPHA:100050 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Thyroiditis, Uveitis,... |
OMIM:617388 |
Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Hypogonadotropic hypogonadism, Car... |
ORPHA:550 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Abdominal pain, Splenomegaly, Jaundice, Leukocytosi... |
OMIM:603903 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, High palate, Re... |
OMIM:605309 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout... |
OMIM:232220 |
Fish-Eye Disease |
|
Splenomegaly, Hepatomegaly, Angina pectoris, Lymphadenopathy |
ORPHA:79292 |
Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Osteomyelitis, Acne, Peptic ulcer, Malabsorption, Sebo... |
ORPHA:2796 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... |
ORPHA:2176 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism... |
OMIM:235255 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Cryptorchidism, Lacunar stroke, Macrogloss... |
OMIM:618440 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Patent ductus arteriosus, Feeding difficulties, High palate, Constipation, Gastroesophageal reflu... |
OMIM:619934 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Hypersplenism, Splenomegaly, Esophageal varix, Pulmonic stenosis, Pulmona... |
OMIM:616028 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... |
OMIM:116920 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas... |
OMIM:269700 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Hypergonadotropic hypogonadism, Chronic diarrhea, Dilated cardiomyopathy, Arrhythmia, Nausea |
OMIM:615084 |
Hyperlipoproteinemia, Type I |
|
Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis |
OMIM:238600 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmune thrombocytopenia,... |
OMIM:613011 |
Systemic Sclerosis |
|
Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha... |
ORPHA:90291 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Elevated hemog... |
OMIM:617253 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Failure to thrive, Petechiae, Feeding difficulties |
OMIM:602473 |
Immunodeficiency 9 |
|
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... |
OMIM:612782 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Abdominal pain, Diarrhea, Weight loss, Hypertension, Failure to thrive, Anemia |
OMIM:256700 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Decreased beta-galactosi... |
OMIM:230600 |
Congenital Myopathy 20 |
|
Chronic diarrhea, Failure to thrive, High palate |
OMIM:620310 |
Rhabdoid Tumor |
|
Hypertension, Thrombocytopenia, Internal hemorrhage, Anemia |
ORPHA:69077 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased fertility in females, ... |
OMIM:608594 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... |
ORPHA:49566 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... |
ORPHA:99228 |
Monosomy X |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... |
ORPHA:99226 |
Turner Syndrome |
|
Myocardial infarction, High, narrow palate, Gastrointestinal inflammation, Inflammation of the la... |
ORPHA:881 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Bronchiectasis, Uveiti... |
OMIM:612387 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism, Diarrhea, Uveitis, Hypertension, Con... |
ORPHA:90321 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... |
ORPHA:404454 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Tubulointe... |
ORPHA:90068 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in infancy, Pustule, Sple... |
OMIM:612852 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Skin rash, Thrombocytopenia, Jaundice,... |
OMIM:603553 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder... |
ORPHA:99921 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Fa... |
OMIM:610768 |
Mucopolysaccharidosis, Type Iiid |
|
Hepatomegaly, Splenomegaly, Diarrhea, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgi... |
OMIM:252940 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... |
OMIM:203700 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Metrorrhagia, Epistaxis, Lymphangioma, Thrombocytopenia, ... |
ORPHA:464329 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Colitis |
OMIM:301220 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom... |
OMIM:139090 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Mac... |
OMIM:618268 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas... |
ORPHA:1655 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Neoplasm of the rectum, Ac... |
ORPHA:524 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastr... |
OMIM:612132 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... |
OMIM:133100 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
1P36 Deletion Syndrome |
|
Feeding difficulties in infancy, Pyloric stenosis, Abnormality of the spleen, Dilated cardiomyopa... |
ORPHA:1606 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Decreased body weight, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatosplenome... |
OMIM:608013 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Peria... |
OMIM:612541 |
Tarp Syndrome |
|
Cryptorchidism, Extramedullary hematopoiesis, Intrauterine growth retardation |
ORPHA:2886 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertensio... |
OMIM:230800 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Vasc... |
ORPHA:50918 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Decreased body weight, F... |
ORPHA:96180 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular he... |
ORPHA:66634 |
Osteopetrosis, Autosomal Recessive 4 |
|
Hepatomegaly, Reticulocytosis, Petechiae, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:611490 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, D... |
ORPHA:454840 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomegaly, Diarrhea, Cardiomyopathy, Impotence, Constipation, Episodic vomiting, Orthostatic h... |
OMIM:105210 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stom... |
OMIM:153670 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Osteoarthritis, Diarrhea, Constipation, Septic arthritis |
OMIM:608654 |
Cholera |
|
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Vomiting, Abdominal cramp... |
ORPHA:173 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Telangiectasi... |
OMIM:601675 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Lymphadenopathy, Panniculitis |
OMIM:619183 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Hypertension, Ga... |
OMIM:223900 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Oral-pharyngeal dyspha... |
ORPHA:2131 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Autoimmune hemolytic anemia, Premature ovarian insuff... |
OMIM:251260 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Leukocytosis, Abdominal obesity, Hypoplasia of the ova... |
OMIM:619321 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Hypote... |
ORPHA:427 |
Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Prolonged bleeding time, Absent platelet dense granules, Chronic oral candidiasis, ... |
OMIM:608233 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Retrograde ejaculation, Syncope, Orthostatic syn... |
ORPHA:230 |
Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Male sexual dysfunction, Constipation, Female sexual dysfunction, Nausea |
ORPHA:2828 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Nausea and vomiting, Orthostatic hypotension, Decreased female libido, Myocard... |
ORPHA:95409 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Generalized lymphadenopathy, Pneumonia, Abdominal pain, Intraventric... |
ORPHA:420741 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Failure to thrive, Tricuspid regurgitation, Dilated cardiomyopathy, Feeding difficulties, Hypertr... |
ORPHA:2556 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Cerebrotendinous Xanthomatosis |
|
Angina pectoris, Myocardial infarction, Diarrhea, Pseudobulbar paralysis, Cholelithiasis |
OMIM:213700 |
Sarcoidosis |
|
Heart block, Increased T cell count, Ventricular tachycardia, Uveitis, Leukopenia, Tubulointersti... |
ORPHA:797 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Irregular menstruation, High palate, Amenorrhea |
OMIM:110100 |
Arima Syndrome |
|
Hepatomegaly, Esophageal varix, Hypertension, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:243910 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... |
OMIM:185000 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Serotonin Syndrome |
|
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea |
ORPHA:43116 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermittent diarrhea, F... |
OMIM:618050 |
African Trypanosomiasis |
|
Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Hepatosplenomegaly, Lymphad... |
ORPHA:3385 |
Mosaic Trisomy 9 |
|
Intestinal malrotation, Asplenia, Cryptorchidism, Patent ductus arteriosus, Cleft palate, High pa... |
ORPHA:99776 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... |
OMIM:607625 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Cryptorchidis... |
OMIM:619005 |
Leukocyte Adhesion Deficiency Type Ii |
|
Hepatomegaly, Neutrophilia, Severe periodontitis, Small for gestational age, Microcytic anemia, P... |
ORPHA:99843 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Zollinger-Ellison syndrome, Gastroesophageal reflux, Vomiting, Decreased male libido, N... |
ORPHA:652 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Failure to thrive, Anemia |
OMIM:616457 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Cryptorchidism, High... |
ORPHA:93932 |
Diaphanospondylodysostosis |
|
Protuberant abdomen, Enlarged kidney, Abnormal liver lobulation, Cleft palate |
OMIM:608022 |
Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Peptic ulcer, Diarrhea, Insulinoma, Zollinger-Ellison syndrome, Es... |
OMIM:131100 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Elevated circulating aspartate aminotransfe... |
ORPHA:466677 |
Chikungunya |
|
Abnormal bleeding, Maculopapular exanthema, Epistaxis, Skin rash, Raynaud phenomenon, Erythema no... |
ORPHA:324625 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Pancreat... |
ORPHA:99889 |
Gaisböck Syndrome |
|
Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly, Hypovolemia, Incr... |
ORPHA:90041 |
Hurler Syndrome |
|
Hepatomegaly, Angina pectoris, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea, Feedin... |
ORPHA:93473 |
Hyperparathyroidism, Neonatal Severe |
|
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Constipation, Failure to thrive, Anemia |
OMIM:239200 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Pancytopenia, Skin rash, Diarrhea, Dilated cardiomyopathy, Vomiting, Left ventricula... |
OMIM:618321 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos... |
OMIM:300908 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... |
ORPHA:500055 |
Deeah Syndrome |
|
Hepatomegaly, Decreased hemoglobin concentration, Decreased heart rate variability, Malabsorption... |
OMIM:619004 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Telangiectasia of the skin, Abnormal... |
ORPHA:1775 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Confusion, Leukocytosis, Leukopenia |
ORPHA:36238 |
Digeorge Syndrome |
|
Acne, Seborrheic dermatitis, High, narrow palate, Thrombocytopenia, Splenomegaly, Recurrent pneum... |
OMIM:188400 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, High palate, Vomiting, Otitis media, Hepatic steatosis, Abdominal pain, Over... |
OMIM:619475 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Colchicine Poisoning |
|
Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Diarrhea, Vomiting, Hypotension... |
ORPHA:31824 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Cervical lymphadenopathy... |
ORPHA:653 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol... |
OMIM:610199 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Hemolytic anemia, Diarrhea, Abdominal pain |
OMIM:615399 |
Ogden Syndrome |
|
Cardiomegaly, Microvesicular hepatic steatosis, Ventricular tachycardia, Iron deficiency anemia, ... |
OMIM:300855 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, Protracted diarrhea, T lymphocyto... |
OMIM:610163 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Atopic dermatitis, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia |
ORPHA:3240 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis, Decreased proportion of class-swi... |
OMIM:617765 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Testicular neoplasm, Diarrhea, Insulinoma, Thymoma, Extrahepatic cholestasis, Episo... |
ORPHA:276152 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Fraser Syndrome 2 |
|
Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia |
OMIM:617666 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Abdominal distention, Microcolon |
OMIM:619362 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... |
ORPHA:288 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension |
OMIM:608643 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... |
OMIM:618213 |
Chronic Myeloid Leukemia |
|
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... |
ORPHA:521 |
Rothmund-Thomson Syndrome Type 1 |
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Premature ovarian insufficiency, Aplastic anemia, Small for gestational age, Cryptorchidism, Diar... |
ORPHA:221008 |
Microphthalmia, Syndromic 1 |
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Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi... |
OMIM:309800 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Telangiectasia of the skin, Skin rash, Small for gestational age, Nasogastric tu... |
ORPHA:2909 |
Spherocytosis, Type 4 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Recurr... |
OMIM:214500 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Felty Syndrome |
|
Splenomegaly, Rheumatoid arthritis, Neutropenia |
OMIM:134750 |
Alg9-Cdg |
|
Hepatomegaly, Villous atrophy, Tricuspid regurgitation, Diarrhea, Periportal fibrosis, Hypoplasia... |
ORPHA:79328 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Malabsorption, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsillitis, Atri... |
ORPHA:581 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Congestive heart failu... |
OMIM:615512 |
Sarcoidosis, Susceptibility To, 1 |
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Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Anorexia, Mediastinal lymphadenopathy, S... |
OMIM:181000 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... |
ORPHA:95455 |
Spherocytosis, Type 2 |
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Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Spontaneous, recurrent epistaxis, Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytop... |
ORPHA:2072 |
Glycogen Storage Disease Ii |
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Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Subarachnoid hemorrhage, Card... |
OMIM:232300 |
Steinert Myotonic Dystrophy |
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Prolonged QRS complex, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficul... |
ORPHA:273 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Seborrheic dermatitis, Large for gestational age, Microvesicular hepatic steatosis,... |
OMIM:300868 |
Tropical Endomyocardial Fibrosis |
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Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
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Psoriasiform dermatitis, Diarrhea, Abnormal T cell subset distribution, Arthritis, B lymphocytope... |
ORPHA:221139 |
Mucoepithelial Dysplasia, Hereditary |
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Eosinophilia, Pneumonia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis... |
OMIM:158310 |
Familial Thrombocytosis |
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Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegal... |
ORPHA:71493 |
Immunodeficiency 55 |
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Absent natural killer cells, Recurrent skin infections, Eczema, Diarrhea, Lymphadenopathy, Neutro... |
OMIM:617827 |
Diarrhea 1, Secretory Chloride, Congenital |
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Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropath... |
OMIM:618183 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Abnormal circulating enzyme concentration or activity, Inflammatory abnormality of ... |
ORPHA:565612 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Failure to thrive, Intestinal malrotation, Patent ductus arteriosus, Biliary ... |
OMIM:600001 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Failure to thrive, Small for gestational age, Intestinal malrotation, Patent ductus arteriosus, B... |
ORPHA:2255 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia |
ORPHA:90035 |
Sitosterolemia 1 |
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Abnormal bleeding, Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platele... |
OMIM:210250 |
Lipodystrophy, Familial Partial, Type 2 |
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Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypertension |
OMIM:151660 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Cachexia, Narrow pala... |
ORPHA:109 |
Gitelman Syndrome |
|
Prolonged QT interval, Neoplasm of the pancreas, Nausea and vomiting, Hashimoto thyroiditis, Abdo... |
ORPHA:358 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Cardiomegaly, Microcytic anemia, Conjunctivitis, Hepatomegaly, Epididymitis, Lymphadenopathy, Par... |
OMIM:256040 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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Small for gestational age, Microvesicular hepatic steatosis, Feeding difficulties, Anteriorly pla... |
OMIM:220111 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hemolytic anemia, Cleft soft palate, Portal hypertension, Fetal ascites, Cryptorchidism, Esophage... |
OMIM:619503 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Anal stenosis, Feeding difficulties in infancy, Patent ductus arteriosus, Hydrocele testis, High ... |
ORPHA:280633 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Failure to thrive, Sinusitis, Female hypogonadism, Chronic diarrhea,... |
OMIM:208900 |
Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal a... |
ORPHA:2753 |
Atypical Werner Syndrome |
|
Decreased body weight, Premature ovarian insufficiency, Telangiectasia of the skin, Failure to th... |
ORPHA:79474 |
Rothmund-Thomson Syndrome Type 2 |
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Aplastic anemia, Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of t... |
ORPHA:221016 |
Blau Syndrome |
|
Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema nodosum, X... |
ORPHA:90340 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Diarrhea, Schistocytosis, Hypertension, Microangiopathic hemolytic anemia, Throm... |
OMIM:235400 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Cachexia, Thrombocytopenia, Anorect... |
ORPHA:647 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
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Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive, Anemia |
OMIM:620358 |
Alström Syndrome |
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Hypoplasia of the Leydig cells, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Gastr... |
ORPHA:64 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
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Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:614441 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Hepatomegaly, Pancreatitis |
OMIM:207750 |
Carney Complex |
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Neoplasm of the pancreas, Sertoli cell neoplasm, Neoplasm of the stomach, Testicular neoplasm, Es... |
ORPHA:1359 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Diarrhea, Feeding difficulties, Hypertension,... |
OMIM:606721 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Hypovolemia, Vomiting, Failure to thrive |
ORPHA:47159 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Recurrent pneumonia, Chronic ... |
ORPHA:158668 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea |
ORPHA:457279 |
Dubowitz Syndrome |
|
Aplastic anemia, Eczema, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insuffic... |
OMIM:223370 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Elevated hemoglobin A1c, Mi... |
OMIM:619127 |
Porphyria, Congenital Erythropoietic |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Increased fecal coproporphyrin 1, Conjunc... |
OMIM:263700 |
Zttk Syndrome |
|
Aortic regurgitation, Absent gallbladder, Feeding difficulties in infancy, Patent ductus arterios... |
OMIM:617140 |
Japanese Encephalitis |
|
Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Vomiting, Infectious encephalitis |
ORPHA:79139 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Decreased testicular size |
OMIM:300953 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circula... |
OMIM:243800 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Splenomegaly, Chronic diarrhea, Enlarged t... |
ORPHA:217085 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal circulating enzyme concentration or activity, Splenomegaly, Chronic diarrhea, Enlarged t... |
ORPHA:217093 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Aspartylglucosaminuria |
|
Hepatomegaly, Acne, Diarrhea, Vacuolated lymphocytes, Macroglossia, Mitral regurgitation, Neutrop... |
OMIM:208400 |
Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia |
OMIM:620072 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Abnormal bleeding, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neopla... |
ORPHA:77293 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Gastroesophageal reflux, Neonatal dea... |
OMIM:619534 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Cryptorchidism, Chronic diarrhea, Episodic vomiting, Obesity, Heart murmur, ... |
OMIM:615873 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Acne, Secretory diarrhea, Seborrheic dermatitis |
OMIM:167100 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypogonadotropic hypogonadism, Recurrent skin infections, Slender build, Cryptorchidism, Synoviti... |
ORPHA:3455 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Macroglossia, Hypertension, Cardi... |
ORPHA:580 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux... |
OMIM:619472 |
Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... |
OMIM:601678 |
Sacral Defect With Anterior Meningocele |
|
Constipation, Rectal abscess |
OMIM:600145 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Hypogonadotropic hypogonadism, Abno... |
ORPHA:79318 |
Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... |
OMIM:241200 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Heart murmur, Abnormal left ventric... |
ORPHA:391665 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Hiatus hernia, Chronic diarrhea, High palate, Bruising susceptibility |
OMIM:304150 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Transient ischemic attack, Failure to thrive in infancy, Gastroparesis, Feedi... |
ORPHA:500150 |
Superficial Siderosis |
|
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Penile Agenesis |
|
Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia |
ORPHA:49 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Chronic diarrhea, Abnormal circulating enzyme concentration or activity, Prolonge... |
ORPHA:909 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular teratoma |
ORPHA:217253 |
Restrictive Dermopathy |
|
Patent ductus arteriosus, Submucous cleft hard palate, Microcolon |
ORPHA:1662 |
Tuberous Sclerosis Complex |
|
Hypertension, Internal hemorrhage |
ORPHA:805 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Cryptorchidism, Renovas... |
ORPHA:286 |