| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
| Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
| Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
| Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Nephrolithiasis, Malabsorption |
OMIM:222900 |
| Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, ... |
OMIM:606528 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... |
OMIM:620045 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
| 5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-py... |
OMIM:260005 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit... |
OMIM:612075 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
| Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... |
ORPHA:2290 |
| Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
| Idiopathic Achalasia |
|
Weight loss, Gastroesophageal reflux, Malnutrition, Dysphagia |
ORPHA:930 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Hepatic failure, Renal cyst, Proximal tubulopathy, Protein-losing ente... |
OMIM:602579 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... |
ORPHA:298 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria |
OMIM:614265 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Fail... |
OMIM:606824 |
| Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
| Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
| Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... |
ORPHA:2070 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi... |
ORPHA:141152 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, Failure to t... |
OMIM:616050 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, ... |
ORPHA:83469 |
| Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
| Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
| Immunodeficiency 104 |
|
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss, Prot... |
ORPHA:398063 |
| Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding |
OMIM:619510 |
| Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption |
OMIM:229050 |
| Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
| Reticular Dysgenesis |
|
Failure to thrive, Diarrhea, Weight loss, Malabsorption |
ORPHA:33355 |
| Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
| Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... |
OMIM:619377 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
| Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
| Attrv30M Amyloidosis |
|
Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
| Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive, Nocturia |
ORPHA:178029 |
| Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
| Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Abdominal pain, Malabsorption |
ORPHA:100025 |
| Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... |
ORPHA:35710 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... |
ORPHA:79319 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive |
OMIM:209920 |
| X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Obesity, Feeding difficulties |
OMIM:620270 |
| Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
| Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cachexia, Diarrhea, Vomiting, Decr... |
ORPHA:42 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
| Immunodeficiency 48 |
|
Diarrhea, Failure to thrive |
OMIM:269840 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Failure to thrive |
OMIM:304790 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
| Renpenning Syndrome |
|
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
| Sandhoff Disease, Juvenile Form |
|
Urinary incontinence, Diarrhea, Constipation, Dysphagia, Failure to thrive |
ORPHA:309162 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
| Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
| Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Weight loss, Malabsorption |
ORPHA:42642 |
| Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive |
ORPHA:314 |
| Galactose Epimerase Deficiency |
|
Nausea and vomiting, Aminoaciduria, Feeding difficulties, Weight loss |
ORPHA:79238 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive |
OMIM:618108 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Chronic diarrhea, Nephrotic syndr... |
ORPHA:79327 |
| Glutaric Aciduria Iii |
|
Glutaric aciduria, Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea |
OMIM:235555 |
| Mungan Syndrome |
|
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607765 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:71 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Abdominal pain... |
ORPHA:275761 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomi... |
OMIM:143880 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Aa Amyloidosis |
|
Proteinuria, Malabsorption, Abdominal pain, Chronic diarrhea, Chronic kidney disease, Malnutritio... |
ORPHA:85445 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
| Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
| Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100082 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa... |
ORPHA:85450 |
| Porphyria, Acute Intermittent |
|
Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting,... |
OMIM:176000 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic ac... |
OMIM:248360 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Cachexia, High palate, Narrow palate |
OMIM:618186 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
| Majeed Syndrome |
|
Proteinuria, Microscopic hematuria, Cachexia, Malabsorption, Weight loss, Failure to thrive |
ORPHA:77297 |
| Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficultie... |
ORPHA:813 |
| Immunodeficiency 19 |
|
Failure to thrive, Chronic diarrhea |
OMIM:615617 |
| Rett Syndrome |
|
Constipation, Gastroesophageal reflux, Cachexia |
OMIM:312750 |
| Netherton Syndrome |
|
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... |
OMIM:256500 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Anorexia, Cachexia, Malabsorption, Abdominal pain, Diarrhea |
ORPHA:3452 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Tubu... |
ORPHA:37042 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive |
OMIM:613501 |
| Cog7-Cdg |
|
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties |
ORPHA:79333 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia... |
OMIM:557000 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
| Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy, Bowel incontinence |
ORPHA:702 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to thrive |
OMIM:264350 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Failure to thrive, Diarrhea |
OMIM:211600 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Diarrhea, Abdominal distention, Protein-losing enteropathy, Vomiting, Decreased l... |
OMIM:608104 |
| Yao Syndrome |
|
Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis, Weight loss |
OMIM:617321 |
| Neuroendocrine Tumor Of The Colon |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Melena, Protracted di... |
ORPHA:100080 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic aciduria, Methylmalonic aciduria, Vomiting, Intermittent diarrhea, Failure to thrive... |
ORPHA:289504 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections |
OMIM:601457 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
| Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
| Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy... |
OMIM:614162 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Obesity, Enuresis, Constipation, Gastroesophageal reflux, D... |
ORPHA:589821 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
| Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis |
OMIM:617638 |
| Isolated Agammaglobulinemia |
|
Diarrhea, Failure to thrive, Malabsorption |
ORPHA:229717 |
| Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
| Alg6-Cdg |
|
Macroglossia, Failure to thrive, Protein-losing enteropathy, Feeding difficulties |
ORPHA:79320 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chronic diarrhea,... |
OMIM:619858 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea, Enlarged kidney |
OMIM:615285 |
| Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom... |
ORPHA:206436 |
| Immunodeficiency 69 |
|
Diarrhea, Failure to thrive |
OMIM:618963 |
| Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
| Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... |
ORPHA:1267 |
| Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
| Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, I... |
ORPHA:100924 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colit... |
OMIM:614700 |
| Dracunculiasis |
|
Nausea and vomiting, Diarrhea |
ORPHA:231 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Proteinuria, Feeding difficulties in infancy, Diarrhea, Renal cyst, Nephrotic sy... |
OMIM:212065 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:620137 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Colitis |
OMIM:619164 |
| Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... |
ORPHA:1333 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Poor appetite, Diarrhea, Nephrolithiasis, Dysphagia, Nausea |
ORPHA:352447 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:616069 |
| Galactosemia I |
|
Diarrhea, Albuminuria, Aminoaciduria, Vomiting, Galactosuria, Increased level of galactitol in ur... |
OMIM:230400 |
| Methionine Malabsorption Syndrome |
|
Diarrhea, Aminoaciduria |
OMIM:250900 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... |
OMIM:226300 |
| Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... |
ORPHA:228371 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, B... |
ORPHA:100075 |
| 19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Cachexia, Cryptorchidism, Feeding difficulties, Failure to thrive |
ORPHA:217346 |
| Immunodeficiency 15B |
|
Failure to thrive, Chronic diarrhea |
OMIM:615592 |
| Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy |
OMIM:606367 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... |
ORPHA:927 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis |
OMIM:613960 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
| Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr... |
ORPHA:330001 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
| Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss |
ORPHA:33276 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
| Immunodeficiency 46 |
|
Failure to thrive, Chronic diarrhea |
OMIM:616740 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver |
ORPHA:69077 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Weight loss, Abdo... |
ORPHA:98850 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Diarrhea, Increased body weight |
ORPHA:94086 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney... |
ORPHA:1018 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties |
OMIM:177735 |
| Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal... |
OMIM:270420 |
| Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Acute kidney injury |
ORPHA:54057 |
| Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation |
ORPHA:254504 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive |
OMIM:242860 |
| Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive, Glossitis |
ORPHA:90045 |
| Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia |
ORPHA:1133 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... |
OMIM:613489 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
| Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding |
ORPHA:163961 |
| Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatic failure, Hematochezia, Acholic stools, Steatorrhea, Failure to thrive |
OMIM:613812 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,... |
OMIM:301074 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Small for gestational age, Renal hypoplasia, Bloody diarrhea, Colitis... |
ORPHA:84064 |
| Autosomal Agammaglobulinemia |
|
Diarrhea, Failure to thrive, High palate, Malabsorption |
ORPHA:33110 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome |
ORPHA:2575 |
| Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ... |
OMIM:212750 |
| Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy |
ORPHA:858 |
| Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
| Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
| Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Micropenis, Decreased testicular size |
OMIM:300215 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Microsporidiosis |
|
Cachexia, Anorexia, Abdominal pain, Nephritis, Peritonitis, Chronic diarrhea, Urethritis, Weight ... |
ORPHA:2552 |
| Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive, Ethylmalonic aciduria |
ORPHA:51188 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... |
ORPHA:100078 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
| Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abdominal pain, Diarrhea,... |
ORPHA:79101 |
| Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ... |
OMIM:256700 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
| Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
| Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
| Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Abdominal pain, Weight loss |
ORPHA:654 |
| Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Failure to thrive, Hepatic failure |
OMIM:214950 |
| Immunodeficiency 27A |
|
Diarrhea, Anorexia, Weight loss |
OMIM:209950 |
| Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain |
ORPHA:99745 |
| Shigellosis |
|
Failure to thrive in infancy, Anorexia, Abdominal pain, Intestinal perforation, Hemolytic-uremic ... |
ORPHA:810 |
| Fatal Familial Insomnia |
|
Urinary retention, Weight loss, Constipation, Dysphagia |
OMIM:600072 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peri... |
ORPHA:90038 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss |
ORPHA:1842 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain |
OMIM:615399 |
| Complement Component 4B Deficiency |
|
Chronic diarrhea |
OMIM:614379 |
| Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Obesity, High palate, Decreased testicular size |
ORPHA:85293 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Diarrhea, Abnormal testis morphology, Weight loss |
ORPHA:54251 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypospadias, Small for gestational age, Galactosuria, Hepatic failure, Intractab... |
OMIM:222470 |
| Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... |
ORPHA:79325 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Failure to thrive |
ORPHA:277 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Hepatic failure, Esophageal varix, Vomiting, Protuberant abdomen... |
OMIM:278000 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive |
OMIM:560000 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Inflammation of the large intestine, Colitis |
OMIM:619281 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Renal salt wasting, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight los... |
ORPHA:361 |
| Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... |
ORPHA:319218 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
| Encephalopathy, Ethylmalonic |
|
Failure to thrive, Chronic diarrhea, Ethylmalonic aciduria, Feeding difficulties |
OMIM:602473 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Pollakisuria, Anal at... |
ORPHA:647 |
| Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
| Cog4-Cdg |
|
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... |
ORPHA:263501 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... |
ORPHA:109 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Failure to thrive |
OMIM:618495 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
| Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Hepatic failure, Small for gestational age, Abdominal pain |
ORPHA:567983 |
| Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
| X-Linked Agammaglobulinemia |
|
Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive |
ORPHA:47 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss |
ORPHA:411703 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t... |
ORPHA:37 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Malabsorption |
OMIM:602347 |
| Adiposis Dolorosa |
|
Constipation, Xerostomia, Obesity, Diarrhea |
ORPHA:36397 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... |
ORPHA:913 |
| Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
| Immunodeficiency 17 |
|
Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, ... |
OMIM:615607 |
| Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Diarrhea, Dicarboxylic aciduria, Vomiting |
OMIM:212140 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
| Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Bloody diarr... |
OMIM:175200 |
| Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease |
OMIM:616100 |
| Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Acute kidney injury |
ORPHA:449285 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... |
OMIM:619573 |
| Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
| Congenital Myopathy 20 |
|
Failure to thrive, Chronic diarrhea, High palate |
OMIM:620310 |
| Caspase 8 Deficiency |
|
Failure to thrive, Chronic diarrhea |
OMIM:607271 |
| Trisomy 18 |
|
Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Hydronephrosis, Anal a... |
ORPHA:3380 |
| Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Abdominal pain, Diarrhea, Oliguria, Weight loss |
ORPHA:188 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
| Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... |
ORPHA:679 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Diarrhea, Failure to thrive secondary to recurrent infections, Protracted diarrhea |
ORPHA:169160 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Diarrhea, Esophageal carcinoma, Functional abnormality of the bladder, Enterocol... |
ORPHA:391487 |
| Immunodeficiency 56 |
|
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic f... |
OMIM:615207 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight loss, Constipatio... |
ORPHA:199299 |
| Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis |
OMIM:618394 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
| Igg4-Related Aortitis |
|
Abdominal pain, Intestinal obstruction, Hydronephrosis, Weight loss |
ORPHA:449400 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, High palate |
OMIM:614069 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting |
ORPHA:79456 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatic failure, Renal cyst, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:79303 |
| Sepsis In Premature Infants |
|
Small for gestational age, Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Enteroco... |
ORPHA:90051 |
| Acute Intermittent Porphyria |
|
Dark urine, Nausea and vomiting, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pa... |
ORPHA:79276 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Malabsorption, O... |
ORPHA:342 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Urethrovesical occlusion, Congenital pyloric atresia |
OMIM:226730 |
| Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
ORPHA:94080 |
| Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
| Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Chronic diarrhea |
OMIM:300400 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
| Immunodeficiency 40 |
|
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula |
OMIM:616433 |
| Immunodeficiency 7 |
|
Diarrhea, Failure to thrive |
OMIM:615387 |
| Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
| Cold Agglutinin Disease |
|
Nausea and vomiting, Abnormal urinary color, Diarrhea |
ORPHA:56425 |
| Classic Galactosemia |
|
Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
| Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficulties, Failure to... |
OMIM:616395 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... |
ORPHA:36426 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Abdominal pain |
ORPHA:99828 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Chronic diarrhea |
OMIM:619484 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea |
OMIM:612692 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Diarrhea, Malnutrition, Decreased body weight, Fat malabsorption |
ORPHA:96180 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Diarrhea, Increased body weight, Renal Fanconi syndrome, ... |
ORPHA:263455 |
| Xfe Progeroid Syndrome |
|
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia |
OMIM:610965 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting, Glome... |
OMIM:223900 |
| Familial Hypoaldosteronism |
|
Nausea and vomiting, Decreased urinary potassium, Renal salt wasting, Diarrhea, Proximal renal tu... |
ORPHA:427 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Failure to thrive in infancy |
OMIM:618805 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Duodenal stenosis |
ORPHA:2547 |
| Imerslund-Gräsbeck Syndrome |
|
Proteinuria, Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis |
ORPHA:35858 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis... |
ORPHA:264580 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
| Alg9-Cdg |
|
Villous atrophy, Ureteral hypoplasia, Diarrhea, Hydronephrosis, Gastroesophageal reflux, Vomiting... |
ORPHA:79328 |
| Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria |
ORPHA:90035 |
| Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Oliguria, Dysphagia |
ORPHA:99824 |
| Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Weight loss, Episodic abdominal pain, Neoplasm of the l... |
ORPHA:100085 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Weight loss |
ORPHA:767 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Chronic diarrhea |
OMIM:618523 |
| Immunodeficiency, Common Variable, 2 |
|
Diarrhea |
OMIM:240500 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
| Malakoplakia |
|
Proteinuria, Dysuria, Abdominal pain, Orchitis, Urinary bladder inflammation, Diarrhea, Neoplasm ... |
ORPHA:556 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Failure to thrive, Inflammation of the large intestine, Chronic ... |
ORPHA:98813 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Weight loss |
ORPHA:312 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... |
ORPHA:436159 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
| Shwachman-Diamond Syndrome 2 |
|
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:617941 |
| Hereditary Fructose Intolerance |
|
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Cons... |
ORPHA:469 |
| Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroenteritis, Sto... |
ORPHA:39812 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Chronic diarrhea, Colitis, Failure to thrive in infancy |
OMIM:301220 |
| Boutonneuse Fever |
|
Renal insufficiency, Diarrhea, Nausea, Abdominal pain |
ORPHA:83313 |
| Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Abdomina... |
ORPHA:93552 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Feeding difficulties in infancy, Abnormality of the ureter, Nephrolithiasis, Cleft pala... |
ORPHA:800 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Inflammation of the large intestin... |
OMIM:614576 |
| Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... |
ORPHA:2176 |
| B4Galt1-Cdg |
|
Diarrhea, Small for gestational age |
ORPHA:79332 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea |
ORPHA:100086 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
| Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... |
ORPHA:100093 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Chronic diarrhea, Failure to thrive in infancy, Abdominal pain |
OMIM:617099 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-u... |
OMIM:619644 |
| Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
| Immunodeficiency 9 |
|
Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis |
OMIM:612782 |
| Fabry Disease |
|
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Vom... |
OMIM:301500 |
| Metachromatic Leukodystrophy |
|
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde... |
ORPHA:512 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Abdominal pain, Peritoniti... |
ORPHA:727 |
| Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Diarrhea, Renal tubular acidosis, Dysphagia, Oroticaciduria |
OMIM:616457 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent aphthous stomatitis |
OMIM:150550 |
| Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci... |
ORPHA:47159 |
| Klatskin Tumor |
|
Cholangiocarcinoma, Abdominal pain, Weight loss |
ORPHA:99978 |
| Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic diarrhea |
OMIM:614699 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing ... |
OMIM:618183 |
| Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Renal insufficiency, Intestinal o... |
ORPHA:160 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Diarrhea, Dicarboxylic aciduria, Feeding difficulties |
OMIM:255120 |
| Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, R... |
ORPHA:18 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Nausea, Abdominal pain, Intestinal perforation, Diarrhea, Secretory diarrhea, Oliguria, B... |
ORPHA:544482 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis, Vomiting, Hepato... |
ORPHA:79240 |
| Oculoskeletodental Syndrome |
|
Small for gestational age, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, P... |
OMIM:618440 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Constipation, Gastroesophagea... |
ORPHA:732 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... |
ORPHA:486 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Nausea, Poor appetite, Diarrhea, Vomiting, Acute kidney injury, Decreased urine output |
ORPHA:542323 |
| Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypospadias |
ORPHA:139466 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
| Familial Mediterranean Fever |
|
Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Episodic abdomin... |
OMIM:249100 |
| Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... |
ORPHA:537 |
| Immunodeficiency, Common Variable, 1 |
|
Diarrhea |
OMIM:607594 |
| Specific Granule Deficiency 2 |
|
Intractable diarrhea, Failure to thrive |
OMIM:617475 |
| Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Steatorrhea, Failure to thrive,... |
OMIM:219700 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Protracted diarrhea |
ORPHA:572 |
| Classic Hodgkin Lymphoma |
|
Poor appetite, Anorexia, Weight loss |
ORPHA:391 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Abdominal distention, Cleft palate, High palate, Protein-losing enteropathy, Micr... |
OMIM:235255 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Proteinuria, Malabsorption, Abd... |
ORPHA:183 |
| 19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea |
OMIM:619824 |
| Transcobalamin Ii Deficiency |
|
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria |
OMIM:275350 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Esophageal stricture, Chronic diarrhea, Failure to thrive, Oral leukoplakia |
OMIM:613989 |
| Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Horseshoe ki... |
OMIM:115470 |
| Caroli Disease |
|
Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdominal rigidity, ... |
ORPHA:53035 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea |
OMIM:615084 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Feeding difficulties in infancy, Vomiting, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:704 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation, Urinary incontinence |
OMIM:608654 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties |
ORPHA:221098 |
| Huntington Disease |
|
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia |
ORPHA:399 |
| Relapsing Fever |
|
Abdominal pain, Diarrhea, Hematuria, Vomiting, Acute kidney injury |
ORPHA:91547 |
| Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Diarrhea, Dysphagia |
OMIM:252930 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... |
ORPHA:500055 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Diarrhea, Vomiting... |
ORPHA:71212 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Atrophic gastritis, Diarrhea, Malabsorption |
OMIM:240300 |
| Takayasu Arteritis |
|
Gastrointestinal infarctions, Anorexia, Weight loss |
ORPHA:3287 |
| Cholera |
|
Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Vomiting, Abdominal cramp... |
ORPHA:173 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Decreased testicular size, Poor appetite |
OMIM:201100 |
| Mirage Syndrome |
|
Hypospadias, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Mic... |
OMIM:617053 |
| Addison Disease |
|
Nausea and vomiting, Primary testicular failure, Anorexia, Decreased urinary potassium, Celiac di... |
ORPHA:85138 |
| Solitary Fibrous Tumor |
|
Neoplasm of the liver, Urinary retention, Constipation, Weight loss |
ORPHA:2126 |
| Citrullinemia Type Ii |
|
Diarrhea, Enuresis, Vomiting, Hepatocellular carcinoma, Decreased body mass index |
ORPHA:247585 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic diarrhea, Nephrotic syndrome, Colitis, Stomatitis, Failure to thrive, Recurrent infection... |
ORPHA:911 |
| Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Fai... |
ORPHA:2470 |
| Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Diarrhea, Weight loss, Vomiting |
ORPHA:134 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Organic aciduria, Anorexia, Weight loss |
ORPHA:79242 |
| Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea, Failure to thrive |
OMIM:618050 |
| Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610768 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Poor appetite, Weight loss |
ORPHA:324964 |
| Tarp Syndrome |
|
