Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting,... |
OMIM:615863 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease |
OMIM:613148 |
Desmoid Disease, Hereditary |
|
Colorectal polyposis, Colon cancer, Desmoid tumors |
OMIM:135290 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis |
OMIM:613860 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... |
ORPHA:424019 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL ... |
OMIM:246700 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... |
ORPHA:2070 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Pancytopenia, Elevated circulating C-reactive protein concentration, Feeding dif... |
OMIM:616050 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... |
ORPHA:103910 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Refractory Celiac Disease |
|
Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Abdomina... |
ORPHA:398063 |
Epilepsy With Bilateral Occipital Calcifications |
|
Celiac disease |
OMIM:226810 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Iron deficiency anemia, Abnormal... |
OMIM:226300 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... |
ORPHA:2869 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... |
OMIM:112200 |
Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... |
ORPHA:543 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
Congenital Lethal Erythroderma |
|
Failure to thrive, Hypoalbuminemia, Malabsorption |
ORPHA:1954 |
Immunodeficiency 76 |
|
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Colitis |
OMIM:619164 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity |
ORPHA:88643 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... |
ORPHA:44890 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Increased CD4:CD8 ratio, Min... |
OMIM:617006 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ... |
OMIM:243150 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis |
OMIM:616098 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Monocytosis, Inflammation of t... |
OMIM:619281 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Folliculitis, Inflamm... |
OMIM:300635 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Chronic diarrhea, Atopic dermatitis, Ulcerative colitis, Bronchiectasis,... |
OMIM:617638 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Acholic stools, Hypoalbuminemia, Increased serum bil... |
OMIM:619868 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Intestinal perforation, Gastroesophageal reflux, Vomitin... |
ORPHA:85450 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Leukocytosis, Pro... |
ORPHA:67 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Aganglionic megacolon, Abdominal pain, Abnormal intestine morphology, Con... |
ORPHA:897 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Diarrhea, Thrombocytopenia, Elevated circulating creatinine concentration, Abdomi... |
OMIM:608104 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia, Dec... |
ORPHA:79319 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom... |
ORPHA:251992 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
Nephrotic Syndrome, Type 1 |
|
Small for gestational age, Pyloric stenosis, Hyperlipidemia, Abdominal distention, Gastroesophage... |
OMIM:256300 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Malabsorption, Abdominal pain, Splenomegaly, Hypocalcemia, A... |
ORPHA:100025 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Hypercalcemia, Tracheoesophageal fistula, Abnor... |
ORPHA:2591 |
Alg6-Cdg |
|
Decreased LDL cholesterol concentration, Feeding difficulties, Macroglossia, Protein-losing enter... |
ORPHA:79320 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis |
OMIM:615083 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... |
OMIM:604416 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Ileal ulcer, Anterior uveitis, Colitis, Skin rash |
OMIM:616744 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Linear Iga Dermatosis |
|
Inflammation of the large intestine |
ORPHA:46488 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... |
ORPHA:79327 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Hepatic failure, Protein-losing enteropathy, Vomiting, Hypoalbuminemia... |
OMIM:602579 |
Immunodeficiency 70 |
|
Celiac disease, Colitis, Recurrent sinusitis, Furuncle, Achalasia |
OMIM:618969 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho... |
ORPHA:2978 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Abdominal pain |
ORPHA:234 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... |
ORPHA:90038 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Igg4-Related Aortitis |
|
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Hy... |
ORPHA:449400 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Colitis, Recurrent sinusitis |
OMIM:613101 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum... |
ORPHA:424016 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Hypersplenism, Thrombocytopenia, Splenomegaly, Esophageal varix, Leu... |
ORPHA:64743 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrh... |
ORPHA:90362 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abd... |
ORPHA:83469 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Flexion contracture, Gastroesophageal reflux, Hypoalbuminemia, Decreased serum zinc, Abnormal eso... |
ORPHA:89842 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis, Bone marrow hypocellularity |
OMIM:615190 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... |
OMIM:613960 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... |
OMIM:610069 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, T lymphocytopenia, Inflammation... |
OMIM:618108 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, High, narrow palate, Re... |
ORPHA:79076 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic diarrhea, I... |
OMIM:304790 |
Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Elevated ... |
ORPHA:160 |
Diarrhea 13 |
|
Hypoalbuminemia, Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Esophagitis, Eosinophilic, 1 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Vomiting, Eosinophilia, Esophagitis, Dysphagia |
OMIM:613412 |
Somatostatinoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Neoplasm of... |
ORPHA:97283 |
Ppoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Intestinal ... |
ORPHA:97278 |
Glucagonoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Constipat... |
ORPHA:97280 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Dysphagia |
OMIM:606764 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... |
OMIM:300048 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Colitis, Vomiting, ... |
ORPHA:37042 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Hypomagnesemia, Diarrhea, Abdominal pain, Xerostomia, Hamartom... |
OMIM:175500 |
Grfoma |
|
Anorexia, Poor appetite, Lack of bowel sounds, Zollinger-Ellison syndrome, Pheochromocytoma, Epis... |
ORPHA:97261 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Colitis |
OMIM:614602 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Elevated proportion of C... |
OMIM:619802 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Weight loss, Hypoalbuminemia,... |
OMIM:209950 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Gastric varix, Hepatocellular carcinoma |
OMIM:613490 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Flexion contracture, Absence of... |
OMIM:601675 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Adenomatous colonic poly... |
ORPHA:157798 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Increased serum bile acid concentration, Steatorrhea |
OMIM:607748 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... |
OMIM:600802 |
Vascular Hyalinosis |
|
Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy, Chorioretinal scar |
OMIM:277175 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... |
ORPHA:411696 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Diarrhea, Lymphocyt... |
ORPHA:436159 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... |
OMIM:616433 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia, High palate, Decreased response to growth hormone stimulation test, Decreased bo... |
OMIM:618347 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy, Hyperglycinemia |
OMIM:619063 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Flexion contracture, Esophageal varix, Hepatosplenomegaly, Hypoalbuminemia, Decreased liver funct... |
ORPHA:367 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... |
ORPHA:247798 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Interstitial pneumonitis, Enterocolitis, Ulcerative colitis |
OMIM:614878 |
Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Pyloric stenosis, Failure to thrive, Projectile vomiting |
OMIM:179010 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Abnormal rectum morphology, Hiatus hernia |
ORPHA:101009 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Intestinal obstruction, Abnormal dental enamel morphology, Cryptorchidism, Hy... |
ORPHA:2323 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Cachexia, Abnormal circulating creatine concentration, Ileus, Constipation |
ORPHA:52503 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach |
OMIM:114500 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio... |
OMIM:613752 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Eosinophilia, Malabsorption, Abdominal pain, Weight ... |
ORPHA:183 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Pyloric ... |
OMIM:613327 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I... |
OMIM:301074 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphadenitis, Chronic diarrhea, Chron... |
ORPHA:911 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstruction, Aplasia... |
ORPHA:3440 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Increased circulating NT-... |
ORPHA:85443 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Malabsorption, Diarrhea, Weight loss, Leukopenia, Failure to thrive, ... |
ORPHA:33355 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... |
ORPHA:309108 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Bloody diarrhea, Paralytic il... |
ORPHA:810 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Pneumonia, Erythema nodosum, Sp... |
OMIM:614700 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... |
ORPHA:247598 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Fasciitis, Elevated circulating C-reactive protein concentration, Abdomin... |
ORPHA:32960 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Eosinophilic infiltration of the esophagus, Malabsorption, Hypoalbuminemia, Hypernatremia, Failur... |
OMIM:615508 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Protein-losing enteropathy, Abnormal T cell morphology |
OMIM:613502 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Colitis... |
ORPHA:540 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Esophageal stricture, Pancolitis, Inflammation of the large intestine, Bone marrow hypocellularit... |
OMIM:620133 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Weight loss, Anemia, Leukop... |
ORPHA:507 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Diarrhea, Hy... |
ORPHA:247585 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly, Recurren... |
OMIM:618935 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C... |
OMIM:618999 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... |
OMIM:243180 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Xerostomia, Dysphagia |
ORPHA:779 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Feeding difficu... |
OMIM:212065 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Cryptorchidism, Acute leukemia, Hypogonadism, Testicular seminoma |
ORPHA:281090 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... |
OMIM:617021 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Cervical lym... |
ORPHA:2686 |
Porphyria Variegata |
|
Hyponatremia, Scarring, Abdominal pain, Abnormal circulating porphyrin concentration, Ileus, Cons... |
ORPHA:79473 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting |
OMIM:616809 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Diarrhea, Obesity, Primary amenorrhea |
OMIM:600955 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... |
OMIM:619381 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Crohn's dis... |
ORPHA:69126 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Neop... |
ORPHA:480536 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Paralytic ileus, Failure to thrive, Dysphagia |
OMIM:613559 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem... |
OMIM:618183 |
Colorectal Cancer, Susceptibility To, 10 |
|
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis |
OMIM:612591 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Lymphocytic infiltra... |
OMIM:616100 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ... |
OMIM:618372 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Orchitis, Sple... |
ORPHA:342 |
Pyoderma Gangrenosum |
|
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine |
ORPHA:48104 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Splenomegaly, Diarrhea, Abdominal pain, ... |
ORPHA:2930 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Feeding difficulties in infancy, Hepatosplenomegaly, Hyp... |
OMIM:619013 |
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
Erythroderma, Lethal Congenital |
|
Failure to thrive, Hypoalbuminemia |
OMIM:227090 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Wolman Disease |
|
Nausea and vomiting, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal distention, Malnut... |
ORPHA:75233 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia, Feeding difficulties |
OMIM:614652 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Splenomegaly, F... |
ORPHA:2137 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis, Enamel hypoplasia, Failure to thrive, Atrophic scars |
OMIM:226700 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Absent peripheral lymph nodes in presence of infection, Feeding difficulties in infancy, ... |
ORPHA:98813 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorptio... |
OMIM:601847 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Abetalipoproteinemia |
|
Reticulocytosis, Decreased HDL cholesterol concentration, Acanthocytosis, Chronic diarrhea, Decre... |
ORPHA:14 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Elevated circulating creatine conc... |
OMIM:300352 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Recurrent pneumonia, Bronchiectasis, Diarrhea, Hepatosple... |
OMIM:219700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat ... |
ORPHA:71 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:329971 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... |
ORPHA:793 |
Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Diarrhea, Cellulitis, Abnormal lymph... |
ORPHA:229717 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Hypergonadotropic hypogonadism, Hypogonadotropic hypog... |
ORPHA:298 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Arthritis, Inflammation o... |
ORPHA:324964 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatic failure, Acholic stools, Steatorrh... |
OMIM:607765 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis, Hepatic failure, Hyperammonemia |
ORPHA:664 |
Dubowitz Syndrome |
|
Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolap... |
ORPHA:235 |
Wilson Disease |
|
Hypoparathyroidism, Hemolytic anemia, Acute hepatic failure, Decreased circulating ceruloplasmin ... |
OMIM:277900 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Alg12-Cdg |
|
Hyponatremia, Intestinal malrotation, Cryptorchidism, Feeding difficulties, Abnormal adipose tiss... |
ORPHA:79324 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Inguinal hernia, Pancytopenia, Small for gestational age, Intestinal malrotation, Esophageal vari... |
OMIM:613658 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob... |
ORPHA:247353 |
Abetalipoproteinemia |
|
Fat malabsorption, Abetalipoproteinemia, Acanthocytosis |
OMIM:200100 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia, Giant hypertrophic gastritis |
OMIM:137280 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
High, narrow palate, Congenital contracture, Ileus, High palate |
OMIM:620156 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Small for gestational age, Increased mean platelet volume, Splenomegaly, Hepatic... |
OMIM:222470 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangiectasia, Erysipelas |
OMIM:235510 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Thrombocytopenia, Paris-Trousseau Type |
|
Pyloric stenosis, Thrombocytopenia |
OMIM:188025 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... |
ORPHA:2575 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate |
OMIM:616730 |
Galloway-Mowat Syndrome 3 |
|
Hiatus hernia, High palate, Hypoalbuminemia, Camptodactyly, Failure to thrive |
OMIM:617729 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... |
OMIM:615710 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Primary Biliary Cholangitis |
|
Celiac disease, Conjugated hyperbilirubinemia, Abdominal distention, Hepatic failure, Gastrointes... |
ORPHA:186 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hypoalbuminemia |
OMIM:618349 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorption, Failure... |
OMIM:211600 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Paralytic ileus, Failure to thrive, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia |
ORPHA:254930 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Elevated circulating alpha-... |
OMIM:276700 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Cervical lymphadenopathy, Recurrent pneumonia, Bloody diarrhea, Hematochezia, Lymphade... |
OMIM:617718 |
Fg Syndrome 3 |
|
Cryptorchidism, Pyloric stenosis, Feeding difficulties, Chronic constipation, Joint contracture |
OMIM:300406 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chronic diarrhea, ... |
OMIM:619858 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Bronchiectasis, Recurrent pneumonia |
OMIM:301220 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Hypogonadism, Constipation, Arthrogry... |
ORPHA:163746 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Acute hepatic failure, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalb... |
ORPHA:1667 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Cryptorchidism, Lipoatrophy, Congenital pyloric atresia, Shagreen patch |
ORPHA:2617 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Elevated circulating C-... |
ORPHA:900 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
Trigonocephaly 1 |
|
Omphalocele, High, narrow palate, Meckel diverticulum |
OMIM:190440 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Lymphoid nodular hyperplasia, Multiple lipomas |
ORPHA:210548 |
Mungan Syndrome |
|
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Galloway-Mowat Syndrome 1 |
|
Small for gestational age, Hiatus hernia, Feeding difficulties, High palate, Hypoalbuminemia, Cam... |
OMIM:251300 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly |
OMIM:614262 |
Absent Radius-Anogenital Anomalies Syndrome |
|
Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula |
ORPHA:3016 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, G... |
OMIM:613177 |
Cystic Fibrosis |
|
Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Gastroesophageal reflu... |
ORPHA:586 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
Iga Pemphigus |
|
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess |
ORPHA:555905 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Mucopolysaccharidosis-Plus Syndrome |
|
Thrombocytopenia, Splenomegaly, Flexion contracture, Macroglossia, Leukopenia, Hypoalbuminemia, N... |
OMIM:617303 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, T lymphocytopenia, Vomiting, Tub... |
OMIM:619510 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... |
OMIM:603041 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric atresia, Atroph... |
OMIM:226730 |
Bronchogenic Cyst |
|
Abdominal pain, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hematochezia, Decreased serum bile acid concentration, Hyperbilirubinemia, Fat m... |
OMIM:214950 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal eosinophil morphology, Abnormal large intesti... |
ORPHA:171 |
Thoraco-Abdominal Enteric Duplication |
|
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Wolfram Syndrome 2 |
|
Gastric ulcer, Oligomenorrhea, Primary amenorrhea |
OMIM:604928 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Lymphopenia, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficultie... |
OMIM:616395 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Malabsorption, Hypersplenism, Thrombocytopen... |
ORPHA:98850 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Duodenal atresia, Anemia, Intestinal atresia |
ORPHA:3405 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin concentration,... |
OMIM:618963 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating lipid concentration, Abnormality of body weight, Enlarged ... |
ORPHA:2298 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Scarring, Feeding difficulties, Atrophic scars, Smooth tongue, Hypoalbuminemia, Enamel hypoplasia... |
ORPHA:79396 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Conjugated hyperbilirubinemia, Abdominal distention, Hyperkalemia, Hyp... |
OMIM:618528 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Dysphagia |
OMIM:254900 |
Reni Syndrome |
|
Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Lymphopenia |
OMIM:617575 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Gastroesophageal reflux, Hernia |
ORPHA:98892 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding |
ORPHA:163961 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... |
ORPHA:309031 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Colonic Atresia |
|
Omphalocele, Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia |
ORPHA:1198 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Hypercalcemia, Cryptorchidism, Splenomegaly, Elbow flexion contracture... |
OMIM:618440 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer, Anemia |
OMIM:208060 |
Acute Intermittent Porphyria |
|
Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudob... |
ORPHA:79276 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Feeding difficulties in infancy, Splenomega... |
OMIM:251880 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Thrombocytopenia, Chronic diarrhea, Neutropenia, Weight loss, Glossoptosis, Hypoca... |
ORPHA:47 |
Familial Melanoma |
|
Neoplasm of the pancreas, Neoplasm of the stomach |
ORPHA:618 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Hepatic failure, Abnormal serum bile... |
ORPHA:79303 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow... |
OMIM:278000 |
Xfe Progeroid Syndrome |
|
Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Corneal scarring, Hypoalb... |
OMIM:610965 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux |
OMIM:201475 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Elevated circulating creatine kinase concentration, Abdominal pain, Diarrhea, Peritoni... |
ORPHA:36234 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Hypog... |
ORPHA:3463 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Small for gestational a... |
OMIM:557000 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Feeding difficulties in infancy, Abdominal distention, Vomiting, Hypoalbum... |
OMIM:613070 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Flexion contracture, Malnutrition, Corn... |
OMIM:226600 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Failure to thrive, Diarrhea, Flexion contracture, High palate, Vomiting, Arthrog... |
OMIM:601110 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation |
ORPHA:79405 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Splenomegaly, Inflammation of the large intestine, Chronic diarrhea, Esophageal varix |
OMIM:614576 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Conjunctivitis, Rectal absces... |
OMIM:601495 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Abdominal pain, Lymphadenitis, Splenomegaly, Chronic diarrhea, Lymphadenopathy, Hematoche... |
OMIM:615895 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Autoimmune hemolytic anemia, Eczema, Autoi... |
ORPHA:391487 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatosplenomegaly, Weight loss, Feeding difficulties, Hypoalbuminemia, Failure... |
OMIM:619487 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... |
OMIM:239300 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abdominal pain, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnorma... |
ORPHA:567548 |
Immunodeficiency 92 |
|
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... |
OMIM:619652 |
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Pyloric stenosis |
OMIM:133705 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Bloody diarrhea, Leuko... |
ORPHA:99826 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Bile duct proliferation, Hyperbilirubinemia, Fat malabsorption, Hepatic failure |
ORPHA:79302 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Feeding difficulties, Bile duct proliferation, Hypoalbuminemia, Decreased liver function, Hyperal... |
OMIM:618329 |
Fanconi Anemia, Complementation Group O |
|
Rectal atresia, Anal atresia |
OMIM:613390 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation |
ORPHA:79406 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Pyloric stenosis, Elbow flexion contracture, Knee flexion contracture,... |
OMIM:619461 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Aganglionic megacolon, Short-segment aganglionic megacolon, Cryptorchidism, Ileus, Long-segment a... |
OMIM:609136 |
Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Macroglossia, Leukopenia, Hypoalbumine... |
ORPHA:505248 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Feeding difficulties, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H... |
OMIM:617093 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... |
ORPHA:29207 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Villous atrophy, Autoimmune hemolytic... |
OMIM:614162 |
Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Pylo... |
OMIM:270400 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Generalized lymphadenopathy, Cholangitis, Eczema, Abdominal... |
ORPHA:3260 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Tr... |
OMIM:601346 |
Sepsis In Premature Infants |
|
Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Splenomegaly, Enterocolitis, Functi... |
ORPHA:90051 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Gastrointestinal inflammation |
ORPHA:79411 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... |
ORPHA:220460 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... |
ORPHA:2908 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Abdominal distention,... |
OMIM:235255 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Duodenal stenosis |
ORPHA:2547 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Peritonitis, Hypoalbuminemia, Abdominal pain |
ORPHA:656 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Progressive flexion contractures, Abnormal large intestine morphology, Malrotati... |
ORPHA:93932 |
Poliomyelitis |
|
Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea |
ORPHA:2912 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Pancolitis, Bloody di... |
OMIM:618213 |
Osteogenesis Imperfecta |
|
Intestinal obstruction, Inguinal hernia, Small for gestational age, Abnormal dental enamel morpho... |
ORPHA:666 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Increas... |
ORPHA:98870 |
Mirage Syndrome |
|
Hyponatremia, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, Chronic diarr... |
OMIM:617053 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... |
OMIM:277380 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Esophagitis, Feeding difficulties |
ORPHA:79350 |
Icf Syndrome |
|
Abnormality of neutrophils, Malabsorption, Protruding tongue, Macroglossia, Umbilical hernia, Lym... |
ORPHA:2268 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Failure to thrive in infancy, Dec... |
OMIM:606367 |
Muir-Torre Syndrome |
|
Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ... |
ORPHA:587 |
Serkal Syndrome |
|
Malrotation of small bowel, Congenital diaphragmatic hernia |
ORPHA:139466 |
Thymoma |
|
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Neoplasm of the gastroint... |
ORPHA:99867 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... |
ORPHA:811 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233710 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure |
ORPHA:331 |
Plague |
|
Glossitis, Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hem... |
ORPHA:707 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste... |
ORPHA:2470 |
Infection-Related Hemolytic Uremic Syndrome |
|
Pneumonia, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Pancreatitis, Secretory... |
ORPHA:544482 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... |
ORPHA:2847 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation |
ORPHA:79409 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Feeding difficulties in infancy, Leukopenia, Thrombocytopenia, Megarectum |
OMIM:301056 |
Glycogen Storage Disease Ib |
|
Pancreatic fibrosis, Splenomegaly, Gout, Inflammation of the large intestine, Protuberant abdomen... |
OMIM:232220 |
Metachromatic Leukodystrophy |
|
Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal gallbladde... |
ORPHA:512 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Splenomegaly, Bloody diarrhea, Colitis, Hypoplasia of... |
ORPHA:84064 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Feeding difficulties, Meconium ileus, Knee flexion contracture |
OMIM:617239 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... |
OMIM:619055 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Splenomegaly, Abdominal distention,... |
ORPHA:1655 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Hypoalbuminemia |
OMIM:614441 |
Microgastria-Limb Reduction Defect Syndrome |
|
Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the ... |
ORPHA:2538 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... |
ORPHA:3202 |
Netherton Syndrome |
|
Villous atrophy, Hypereosinophilia, Failure to thrive, Recurrent infection of the gastrointestina... |
OMIM:256500 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:3197 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:233690 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Leukocytosis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess,... |
OMIM:116920 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Eczema, Rectal prolapse, Feeding difficulties, Gastroesophageal reflux, High palate |
OMIM:617157 |
Johanson-Blizzard Syndrome |
|
Malabsorption, Anteriorly placed anus, Anemia, Failure to thrive, Hypoproteinemia, Anal atresia, ... |
ORPHA:2315 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Mal... |
OMIM:240300 |
Leprechaunism |
|
Abdominal distention, Rectal prolapse, Megarectum |
ORPHA:508 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... |
ORPHA:562639 |
Isolated Biliary Atresia |
|
Small for gestational age, Atretic gallbladder, Splenomegaly, Conjugated hyperbilirubinemia, Acho... |
ORPHA:30391 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Crohn's disease |
OMIM:619705 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejunoileal ulcerat... |
ORPHA:436252 |
Cystic Fibrosis, Modifier Of, 1 |
|
Meconium ileus |
OMIM:603855 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hype... |
OMIM:620358 |
Duodenal Ulcer, Hyperpepsinogenemic I |
|
Hyperpepsinogenemia I, Duodenal ulcer |
OMIM:126850 |
Selective Igm Deficiency |
|
Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re... |
ORPHA:331235 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Azoo... |
OMIM:615234 |
Multiple Osteochondromas |
|
Intestinal obstruction, Dysphagia |
ORPHA:321 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Dysmenorrhea, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Classical Ehlers-Danlos Syndrome |
|
Hiatus hernia, Rectal prolapse, Osteoarthritis, Chronic constipation, Gastroesophageal reflux, Vo... |
ORPHA:287 |
Cocaine Intoxication |
|
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... |
ORPHA:90068 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Duodenal atresia, Intestinal malrotation, Polysplenia, Reduced progressive sperm motility |
OMIM:619608 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Abdominal distention, Hepatic failure, Hypoalbum... |
OMIM:617156 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me... |
OMIM:115470 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
Spastic Paraplegia 84, Autosomal Recessive |
|
Crohn's disease |
OMIM:619621 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure... |
OMIM:616457 |
Acute Transverse Myelitis |
|
Gastroparesis, Decreased circulating copper concentration, Paralytic ileus, Constipation, Abnorma... |
ORPHA:139417 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Necrotizing e... |
OMIM:619573 |
Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Abnormal neutrophil morphology, Neutropenia, Ce... |
ORPHA:51636 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma |
OMIM:617100 |
Williams Syndrome |
|
Colonic diverticula, Nausea and vomiting, Peptic ulcer, Malabsorption, Abdominal pain, Abnormal g... |
ORPHA:904 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Inflammat... |
ORPHA:79259 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D... |
OMIM:131100 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Duodenal adenocarcinoma, Adenomatous colonic polyposis, Colon cancer |
ORPHA:454840 |
Familial Mediterranean Fever |
|
Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Peritonitis, Episodic abdominal p... |
OMIM:249100 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdominal pain, Hepatospl... |
ORPHA:275761 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Small for gestational age, Abdominal pain, Biliary hyperplasia, Splenomegaly, Co... |
ORPHA:567983 |
Coffin-Lowry Syndrome |
|
Rectal prolapse, High palate, Narrow palate |
OMIM:303600 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... |
ORPHA:210122 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Thrombocytopenia, Steatorrhea, P... |
OMIM:260400 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Increased circulating very long-chain fatty acid concentration, Volvul... |
OMIM:609313 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the rectum, Acute lymphoblastic leukemia, Colorectal polyposi... |
ORPHA:524 |
Glycogen Storage Disease Ic |
|
Stomatitis, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular carci... |
OMIM:232240 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, Aganglionic megacolon, Malabsorption, Lymphopenia, Anemia |
ORPHA:935 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Muir-Torre Syndrome |
|
Colonic diverticula, Ovarian neoplasm, Colon cancer, Adenoma sebaceum, Benign gastrointestinal tr... |
OMIM:158320 |
Sarcoidosis, Susceptibility To, 1 |
|
Generalized lymphadenopathy, Anorexia, Iridocyclitis, Mediastinal lymphadenopathy, Splenomegaly, ... |
OMIM:181000 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Dyspareunia, Acute hepatic failure, Nausea and vomiting, Abnormality... |
ORPHA:36426 |
Williams-Beuren Syndrome |
|
Colonic diverticula, Feeding difficulties in infancy, Celiac disease, Rectal prolapse, Chronic co... |
OMIM:194050 |
Duodenal Atresia |
|
Duodenal atresia |
OMIM:223400 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Hyperlipidemia, Hypoalbuminemia, Abdominal pain |
ORPHA:567546 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Elevated circulating creatine kinase concentration, Scarring alopecia of scalp, Abdominal distent... |
ORPHA:158684 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent pneumonia, Pneumonia, Esophagitis |
ORPHA:3348 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Colonic diverticula |
OMIM:173900 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Vomiting, Lymphoc... |
OMIM:619991 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Osteomyelitis, Liver abscess, Discoid lupus rash, Lymphadeni... |
OMIM:306400 |
Fumarase Deficiency |
|
Mitochondrial swelling, Necrotizing enterocolitis, Hepatic failure, High palate |
OMIM:606812 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Gastritis, Splenomegaly, Xerostomia, Leukopenia, G... |
ORPHA:809 |
Dextrocardia |
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Pancreatic hypoplasia, Abnormality of the spleen, Meckel diverticulum, Intestinal malrotation |
ORPHA:1666 |
Immunodeficiency 89 And Autoimmunity |
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Bronchiectasis, Crohn's disease |
OMIM:619632 |
Toxic Epidermal Necrolysis |
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Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... |
ORPHA:537 |
Hemochromatosis, Type 5 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Acrocephalopolydactylous Dysplasia |
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Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Hypoplasia of the small intestine, Polysplenia |
OMIM:200995 |
Bannayan-Riley-Ruvalcaba Syndrome |
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Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... |
ORPHA:109 |
Tarp Syndrome |
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Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Meck... |
OMIM:311900 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
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Gastrointestinal inflammation |
ORPHA:79410 |
Hardikar Syndrome |
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Vomiting, Cleft soft palate, Abdominal pain, Hepatosplenomegaly, Decreased liver function, Hyperb... |
OMIM:301068 |
Multiple Endocrine Neoplasia, Type Iib |
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Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Malakoplakia |
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Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... |
ORPHA:556 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... |
ORPHA:2072 |
Tarp Syndrome |
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Failure to thrive, Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Glossoptosis, Abno... |
ORPHA:2886 |
Frontometaphyseal Dysplasia 2 |
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Feeding difficulties in infancy, Pyloric stenosis, Cryptorchidism, Cleft palate, Ulcerative colit... |
OMIM:617137 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Splenomegaly, Incr... |
OMIM:619534 |
Autoimmune Polyendocrinopathy Type 4 |
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Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni... |
ORPHA:227990 |
Autoimmune Polyendocrinopathy Type 3 |
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Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid... |
ORPHA:227982 |
Pgm3-Cdg |
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Lactose intolerance, Membranoproliferative glomerulonephritis, Osteomyelitis, Eczema, Allergic rh... |
ORPHA:443811 |
Fraser Syndrome 2 |
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Intestinal malrotation, Abdominal distention, Rectal atresia, Hypoplasia of the thymus, Anal atresia |
OMIM:617666 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
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Nausea and vomiting, Abdominal distention, Congenital pyloric atresia, Enamel hypoplasia, Intesti... |
ORPHA:79403 |
Omenn Syndrome |
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Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Diarrhea, Thrombocytopenia, Hypoplasia of t... |
OMIM:603554 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Hyponatremia, Biliary hyperplasia, Pancreatic cy... |
ORPHA:731 |
Esophageal Atresia |
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Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Pyloric stenosis, Gas... |
ORPHA:1199 |
Musculocontractural Ehlers-Danlos Syndrome |
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Inguinal hernia, Cryptorchidism, Malrotation of small bowel, Cleft palate, Atrophic scars, High p... |
ORPHA:2953 |
Fryns Syndrome |
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Omphalocele, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Large for ... |
OMIM:229850 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
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Intestinal malrotation, Scarring, Hiatus hernia, Cryptorchidism, Cleft palate, Atrophic scars, Di... |
OMIM:601776 |
Fanconi Anemia |
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Pyridoxine-responsive sideroblastic anemia, Meckel diverticulum, Aganglionic megacolon, Aplasia/H... |
ORPHA:84 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma... |
ORPHA:447 |
Mosaic Trisomy 16 |
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Abnormality of the gastrointestinal tract, Small for gestational age, Nasogastric tube feeding in... |
ORPHA:1708 |
Microphthalmia, Syndromic 1 |
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Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, High palate, Recur... |
OMIM:309800 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
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Hepatosplenomegaly, Hepatic failure, Esophagitis, Feeding difficulties |
ORPHA:541423 |
Postinfectious Vasculitis |
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Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Meier-Gorlin Syndrome 7 |
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Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala... |
OMIM:617063 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Omphalocele, Intestinal malrotation, Asplenia, Esophageal atresia, Tracheoesophageal fistula, Cle... |
OMIM:265380 |
Dermatosparaxis Ehlers-Danlos Syndrome |
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Gastroesophageal reflux, Esophagitis, Hiatus hernia |
ORPHA:1901 |
Chronic Thromboembolic Pulmonary Hypertension |
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Inflammation of the large intestine, Osteomyelitis |
ORPHA:70591 |
Diamond-Blackfan Anemia 7 |
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Recurrent otitis media, Esophagitis, Cleft palate |
OMIM:612562 |
Multiple Endocrine Neoplasia Type 4 |
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Hyperparathyroidism, Peptic ulcer, Testicular neoplasm, Pituitary corticotropic cell adenoma, Pit... |
ORPHA:276152 |
Microphthalmia With Linear Skin Defects Syndrome |
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Feeding difficulties, Abnormal rectum morphology, Abnormality of the anus |
ORPHA:2556 |
Pmm2-Cdg |
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Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated circulating g... |
ORPHA:79318 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Inguinal hernia, Hernia, Small bowel diverticula |
ORPHA:90349 |
Ethylene Glycol Poisoning |
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Gastritis, Hyperkalemia, Vomiting, Hypocalcemia, Nausea |
ORPHA:31826 |
Trisomy 8P |
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Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Cleft palate, Constipati... |
ORPHA:264450 |
Localized Scleroderma |
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Fasciitis, Uveitis, Arthritis, Gastroesophageal reflux, Esophagitis, Hashimoto thyroiditis |
ORPHA:90289 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:99413 |
Turner Syndrome |
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Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:881 |
Mosaic Monosomy X |
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Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:99228 |
Monosomy X |
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Celiac disease, High, narrow palate, Increased circulating gonadotropin level, Thyroiditis, Abnor... |
ORPHA:99226 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
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Gastroesophageal reflux, Vomiting, Esophagitis, Feeding difficulties |
ORPHA:79351 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Decreased response to growth hormone stimulation test, Poor appetite, Feeding difficulties in inf... |
ORPHA:96182 |
Fraser Syndrome 1 |
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Cryptorchidism, Abnormal small intestine morphology, Cleft palate, Abnormality of the anus |
OMIM:219000 |
Coffin-Siris Syndrome 1 |
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Inguinal hernia, Duodenal ulcer, Intestinal malrotation, Congenital diaphragmatic hernia, Feeding... |
OMIM:135900 |
Tropical Endomyocardial Fibrosis |
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Eosinophilia, Cachexia, Splenomegaly, Malnutrition, Hypoalbuminemia |
ORPHA:75565 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
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Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla... |
ORPHA:79408 |
Pitt-Hopkins Syndrome |
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Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... |
ORPHA:2896 |
Severe Generalized Junctional Epidermolysis Bullosa |
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Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Gastrointestinal inflam... |
ORPHA:79404 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
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Juvenile gastrointestinal polyposis, Hematochezia, Hamartomatous polyposis, Gastrointestinal carc... |
OMIM:175050 |
Orofaciodigital Syndrome Type 4 |
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High, narrow palate, Submucous cleft hard palate, Rectal atresia, Cleft palate, Perineal fistula,... |
ORPHA:2753 |
Thrombocytopenia-Absent Radius Syndrome |
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Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Cleft palate, Hepatosplenomegaly,... |
OMIM:274000 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Anal stenosis, Feeding difficulties in infancy, High palate, Gastroesophageal reflux, Blepharitis... |
ORPHA:280633 |
Mowat-Wilson Syndrome |
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Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric stenosis, Gastrointestinal ... |
ORPHA:2152 |
Sacral Defect With Anterior Meningocele |
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Constipation, Rectal abscess |
OMIM:600145 |
Down Syndrome |
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Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Acute megakaryocytic leukemia, Macro... |
OMIM:190685 |
Autosomal Dominant Cutis Laxa |
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Inguinal hernia, Feeding difficulties, Vomiting, Hernia, Small bowel diverticula |
ORPHA:90348 |
Genitopatellar Syndrome |
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Hip contracture, Anal stenosis, Cryptorchidism, Malrotation of small bowel, Knee flexion contract... |
OMIM:606170 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Small for gestational age, Cryptorchidism, Malrotation of small bowel, Cleft pa... |
OMIM:194190 |
Penile Agenesis |
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Anorectal anomaly, Tracheoesophageal fistula, Anal atresia, Rectal fistula |
ORPHA:49 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Exaggerated median tongue furrow, Inguinal hernia, Intestinal malrotation, Congenital diaphragmat... |
OMIM:312870 |
Carney Complex |
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Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Hepatocellular carcinoma, T... |
ORPHA:1359 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
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Abdominal distention, Leukocytosis, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Failure ... |
OMIM:620233 |