| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
| Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
| Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting, Failure to th... |
OMIM:606528 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... |
OMIM:620045 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy, Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
| Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
| Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... |
ORPHA:103907 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy, Failure to thrive, Anorexia |
ORPHA:79283 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... |
ORPHA:209964 |
| Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
| Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy, Failure to thrive, Vomiting |
ORPHA:622 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Depression, Lethargy, Failure to thrive |
ORPHA:178029 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
| Severe Canavan Disease |
|
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph... |
ORPHA:314911 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
| Early Myoclonic Encephalopathy |
|
Lethargy, Feeding difficulties, Poor suck, Dysphagia |
ORPHA:1935 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Vomiting, Failure to thrive |
OMIM:612075 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy, Malabsorption |
OMIM:238750 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy, Failure to thrive, Feeding difficulties |
ORPHA:26 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... |
ORPHA:298 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
| Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia, Depression |
ORPHA:770 |
| Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
| Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
| Idiopathic Achalasia |
|
Weight loss, Gastroesophageal reflux, Malnutrition, Dysphagia |
ORPHA:930 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... |
ORPHA:2494 |
| Spinocerebellar Ataxia 48 |
|
Depression, Cachexia, Dysphagia |
OMIM:618093 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Small for gestational age, Feeding difficulties |
OMIM:617065 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi... |
ORPHA:141152 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Lethargy, Small for gestational age, Feeding difficulties in infancy |
OMIM:610498 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Episodic vomiting, Feeding difficulties |
OMIM:618224 |
| Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
| Cyclic Vomiting Syndrome |
|
Anorexia, Abdominal pain, Gastrointestinal dysmotility, Vomiting, Lethargy, Nausea |
OMIM:500007 |
| Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
| Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
| Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, ... |
ORPHA:83469 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Dihydropyrimidinase Deficiency |
|
Feeding difficulties in infancy, Lethargy, Anal atresia |
OMIM:222748 |
| N-Acetylglutamate Synthase Deficiency |
|
Lethargy, Failure to thrive, Vomiting |
OMIM:237310 |
| Immunodeficiency 104 |
|
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy, Feeding difficulties |
OMIM:617829 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... |
ORPHA:2070 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
| Chronic Hiccup |
|
Weight loss, Malnutrition, Depression |
ORPHA:396 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive, Feeding difficulties |
ORPHA:26792 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Narrow palate, Feeding difficulties, Gastroesophageal reflux, Lethargy, Failure to thrive, Poor suck |
OMIM:611523 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption |
OMIM:229050 |
| Thyroid Dyshormonogenesis 1 |
|
Macroglossia, Constipation, Lethargy |
OMIM:274400 |
| Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Diarrhea, Malabsorption |
ORPHA:33355 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Nausea and vomiting, Lethargy, Failure to thrive |
ORPHA:28 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy, Failure to thrive |
OMIM:274270 |
| Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
| Citrullinemia Type I |
|
Feeding difficulties, Gastroesophageal reflux, Vomiting, Hepatic failure, Lethargy, Failure to th... |
ORPHA:247525 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
| Gaba-Transaminase Deficiency |
|
Lethargy, Feeding difficulties |
OMIM:613163 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Lethargy, Failure to thrive, Dysphagia |
OMIM:613561 |
| Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
| Idiopathic Intracranial Hypertension |
|
Obesity, Depression, Vomiting, Lethargy, Nausea |
ORPHA:238624 |
| Diencephalic Syndrome |
|
Cachexia, Decreased body weight |
ORPHA:1672 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Vomiting, Dysphagia, Lethargy, Failure to thrive, Episodic vomiting |
OMIM:618226 |
| Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Diarrhea, Vomiting, Decreased liver function, Lethargy |
ORPHA:42 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Failure to thrive, Vomiting, Weight loss |
OMIM:143880 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
| Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
| Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
| Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy |
OMIM:618683 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Lethargy, F... |
ORPHA:927 |
| Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Fatal liver failure in infancy |
ORPHA:254857 |
| X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
| Typhoid |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Lethargy |
ORPHA:99745 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
| Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Weight loss, Malabsorption |
ORPHA:42642 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia, Narrow palate, Gastroesophageal reflux, High palate, Neonatal death |
OMIM:618186 |
| Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Neonatal death, Lethargy, Feeding difficulties |
OMIM:618232 |
| Renpenning Syndrome |
|
Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
| Huntington Disease-Like 2 |
|
Weight loss, Bradykinesia, Depression, Apathy, Inertia |
OMIM:606438 |
| Idiopathic Congenital Hypothyroidism |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy |
ORPHA:95717 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Lethargy, Failure to thrive, Vomiting |
OMIM:618228 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Nausea and vomiting, Anorexia, Abdominal pain, Feeding difficulties, Lethargy, Failure to thrive |
ORPHA:79312 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy, Constipation, Feeding difficulties |
ORPHA:101150 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Abnormality of the gastrointestinal tract, Lethargy, Failure to thrive |
ORPHA:2089 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Anorexia, Cachexia, Malabsorption, Abdominal pain, Diarrhea, Depression |
ORPHA:3452 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Decreased liver function, Feeding difficulties |
OMIM:246900 |
| Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
| Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Obesity, Feeding difficulties |
OMIM:620270 |
| Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Failure to thrive, Feeding difficulties, Vomiting, Lethargy, Hepatic failure |
ORPHA:2394 |
| Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... |
ORPHA:319218 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
| Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Lethargy, Diarrhea, Anorexia |
ORPHA:49827 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
| Riboflavin Deficiency |
|
Lethargy, Poor suck |
OMIM:615026 |
| Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... |
ORPHA:79319 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Central Neurocytoma |
|
Nausea and vomiting, Lethargy, Depression |
ORPHA:73256 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Vomiting |
OMIM:618225 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Lethargy, Failure to thrive, Feeding difficulties |
OMIM:250620 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Lethargy |
ORPHA:99828 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive |
OMIM:618108 |
| Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy, Dysphagia |
OMIM:233910 |
| Immunodeficiency 48 |
|
Diarrhea, Failure to thrive |
OMIM:269840 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Protein avoidance, Lethargy, Failure to thrive, Vomiting |
OMIM:237300 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy |
ORPHA:163703 |
| Tuberculosis |
|
Weight loss |
ORPHA:3389 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
| Classic Galactosemia |
|
Cryptorchidism, Diarrhea, Depression, Feeding difficulties, Vomiting, Lethargy, Hepatic failure |
ORPHA:79239 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Lethargy, Feeding difficulties, Small for gestational age, Large for gestational age |
ORPHA:324575 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Protein avoidance, Decreased liver function, Lethargy, Failure to thrive, Episodic vomiting |
OMIM:238970 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Depression, Apa... |
ORPHA:100924 |
| Majeed Syndrome |
|
Weight loss, Failure to thrive, Cachexia, Malabsorption |
ORPHA:77297 |
| Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Feeding difficulties, Gastroesophageal reflux, Lethargy, Failure to thrive |
OMIM:614857 |
| Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
| Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Depression, Paralytic ileus, Vomiting, Constipation, Hepatocellular car... |
OMIM:176000 |
| Carnitine Deficiency, Systemic Primary |
|
Lethargy, Diarrhea, Failure to thrive, Vomiting |
OMIM:212140 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Abdominal distention, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased l... |
OMIM:608104 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Hepatic failure, Protein-losing enteropathy, Vomiting, Steatorrhea, Fa... |
OMIM:602579 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Lethargy |
ORPHA:71277 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
| Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Lethargy, Anorexia, Weight loss |
ORPHA:79242 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Feeding difficulties, Large for gestational age |
ORPHA:276556 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Increased body weight |
ORPHA:276608 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting... |
ORPHA:391673 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Abdominal pain, Abdominal distenti... |
ORPHA:275761 |
| Rett Syndrome |
|
Constipation, Gastroesophageal reflux, Cachexia |
OMIM:312750 |
| Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Hematochezia, Melena,... |
ORPHA:100082 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficulties, Gastroesop... |
ORPHA:813 |
| Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
| Cirrhosis, Familial |
|
Lethargy, Fulminant hepatitis, Esophageal varix, Abdominal distention |
OMIM:215600 |
| Propionic Acidemia |
|
Poor appetite, Feeding difficulties in infancy, Vomiting, Constipation, Lethargy, Failure to thrive |
OMIM:606054 |
| Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight loss, Constipatio... |
ORPHA:199299 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Feeding difficulties, Large for gestational age |
ORPHA:276575 |
| Galactose Epimerase Deficiency |
|
Nausea and vomiting, Feeding difficulties, Weight loss |
ORPHA:79238 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Feeding difficulties, Large for gestational age |
ORPHA:276580 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Small for gestational age |
OMIM:312170 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea |
OMIM:235555 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607765 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Lethargy, Failure to thrive in infancy |
OMIM:619064 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy, Failure to thrive |
OMIM:236270 |
| Cog7-Cdg |
|
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties |
ORPHA:79333 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Coli... |
ORPHA:37042 |
| Isolated Agammaglobulinemia |
|
Diarrhea, Failure to thrive, Malabsorption |
ORPHA:229717 |
| Hemochromatosis, Type 2A |
|
Azoospermia, Lethargy |
OMIM:602390 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Bloody diarrhea, ... |
ORPHA:67 |
| Susac Syndrome |
|
Nausea and vomiting, Lethargy, Apathy |
ORPHA:838 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Anorexia |
OMIM:619386 |
| Familial Thyroid Dyshormonogenesis |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy |
ORPHA:95716 |
| Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Neonatal death, Lethargy, Failure to thrive, Feeding difficulties |
OMIM:605711 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:71 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Feeding difficulties in infancy, Lethargy, Failure to thrive, Vomiting |
OMIM:210200 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Lethargy, Necrotizing enterocolitis, Episodic vomiting, Gastroesophageal reflux |
OMIM:201475 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, Failure to t... |
OMIM:616050 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Lethargy, Failure to thrive, Anorexia |
OMIM:611590 |
| Pelizaeus-Merzbacher Disease |
|
Bowel incontinence, Failure to thrive in infancy, Cachexia |
ORPHA:702 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia... |
OMIM:557000 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
| Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom... |
ORPHA:206436 |
| Infantile Liver Failure Syndrome 2 |
|
Acute hepatic failure, Lethargy, Vomiting |
OMIM:616483 |
| Neuroendocrine Tumor Of The Colon |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Melena, Weight lo... |
ORPHA:100080 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis |
OMIM:617638 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Small for gestational age, Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatit... |
OMIM:277380 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
| Isovaleric Acidemia |
|
Lethargy, Vomiting |
OMIM:243500 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Poor appetite, Diarrhea, Lethargy, Failure to thrive, Decreased testicular size |
OMIM:201100 |
| Glutaric Acidemia Type 3 |
|
Lethargy, Failure to thrive |
ORPHA:35706 |
| Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss, Prot... |
ORPHA:398063 |
| Pyruvate Dehydrogenase Deficiency |
|
Feeding difficulties in infancy, Lethargy, High palate |
ORPHA:765 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Abdominal pain, Weight loss, Apathy, Hepatocellular carcinoma, Lethargy, Test... |
ORPHA:465508 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy |
ORPHA:324581 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Diarrhea, Increased body weight, Vomiting, Lethargy |
ORPHA:263455 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Lethargy, Diarrhea, Feeding difficulties |
OMIM:255120 |
| Microvillus Inclusion Disease |
|
Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea |
ORPHA:2290 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Nausea and vomiting, Lethargy |
ORPHA:289916 |
| Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties, Lethargy, Failure to thrive |
ORPHA:427 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Lethargy, Vomiting |
OMIM:600649 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Failure to thrive, Diarrhea |
OMIM:211600 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... |
ORPHA:85450 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Obesity, Dysphagia, Gastroesophageal reflux, Constipation, ... |
ORPHA:589821 |
| Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive |
OMIM:613501 |
| Citrullinemia Type Ii |
|
Diarrhea, Vomiting, Hepatocellular carcinoma, Lethargy, Mania, Decreased body mass index |
ORPHA:247585 |
| Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... |
ORPHA:1333 |
| Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Colitis |
OMIM:619164 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Feeding difficulties, Stillbirth, Decreased liver function, Neonatal death, Lethargy |
OMIM:614922 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... |
OMIM:226300 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy |
OMIM:610006 |
| Multifocal Atrial Tachycardia |
|
Feeding difficulties in infancy, Cryptorchidism, Lethargy |
ORPHA:3282 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Perry Syndrome |
|
Weight loss, Apathy, Depression |
ORPHA:178509 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy, Feeding difficulties |
OMIM:617105 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Overweight, Obesity, Feeding difficulties, Anteriorly placed anus, Vom... |
ORPHA:26793 |
| Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Diarrhea, Weight loss, Abdo... |
ORPHA:98850 |
| Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Depression, Weight loss, Vomiting... |
OMIM:212750 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Lethargy |
OMIM:608643 |
| 19Q13.11 Microdeletion Syndrome |
|
Cryptorchidism, Failure to thrive, Cachexia, Feeding difficulties |
ORPHA:217346 |
| Immunodeficiency 19 |
|
Chronic diarrhea, Failure to thrive |
OMIM:615617 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Lethargy |
ORPHA:79230 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
| Insulinoma |
|
Lethargy, Zollinger-Ellison syndrome, Increased body weight |
ORPHA:97279 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Feeding difficulties, Stomatitis, Lethargy, Failure to thrive, Glossitis |
ORPHA:79284 |
| Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia |
ORPHA:300605 |
| 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 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive |
OMIM:242860 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Adiposis Dolorosa |
|
Diarrhea, Xerostomia, Obesity, Depression, Constipation |
ORPHA:36397 |
| Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
| Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, W... |
ORPHA:100075 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Lethargy, Failure to t... |
OMIM:620233 |
| Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive |
ORPHA:314 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss |
ORPHA:33276 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Diarrhea, Failure to thrive, Vomiting |
OMIM:275350 |
| Autosomal Agammaglobulinemia |
|
Diarrhea, Failure to thrive, High palate, Malabsorption |
ORPHA:33110 |
| Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
| Maple Syrup Urine Disease |
|
Feeding difficulties in infancy, Lethargy, Vomiting |
OMIM:248600 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Lethargy, High palate, Feeding difficulties |
OMIM:604377 |
| Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
| Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
| Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
| Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Depression, Feeding difficulties, Dysphagia |
ORPHA:79101 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease... |
ORPHA:79327 |
| Methylcobalamin Deficiency Type Cble |
|
Lethargy, Failure to thrive, Vomiting, Feeding difficulties |
ORPHA:2169 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Neoplasm of the liver |
ORPHA:69077 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
| Yao Syndrome |
|
Abdominal pain, Diarrhea, Xerostomia, Weight loss |
OMIM:617321 |
| Immunodeficiency 69 |
|
Diarrhea, Failure to thrive |
OMIM:618963 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Nausea and vomiting, Lethargy |
ORPHA:27 |
| Genetic Transient Congenital Hypothyroidism |
|
Macroglossia, Constipation, Lethargy, Feeding difficulties |
ORPHA:226316 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Failure to thrive, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent infection o... |
OMIM:613489 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Lethargy, Failure to thrive, Vomiting |
OMIM:251000 |
| Dracunculiasis |
|
Nausea and vomiting, Diarrhea |
ORPHA:231 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting, Lethargy, Failure to ... |
ORPHA:71212 |
| Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
| Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding |
OMIM:619510 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy |
OMIM:618120 |
| Glutaric Aciduria Iii |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
| Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting, Lethargy |
ORPHA:173 |
| Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
| Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis |
OMIM:613960 |
| Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,... |
OMIM:301074 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Lethargy, Failure to thrive, Small for gestational age, Feeding difficulties |
OMIM:609015 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
| Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
| Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
| Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive, Glossitis |
ORPHA:90045 |
| Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Lethargy, Vomiting |
OMIM:614299 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Xerostomia, Increased body weight, Feeding difficulties, Chronic constipation, Ab... |
ORPHA:398069 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Small for gestational age, Cryptorchidism, Feeding difficulties, Lethargy, Failure to thrive, Poo... |
OMIM:607143 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Vomiting |
OMIM:201450 |
| Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... |
ORPHA:109 |
| Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
| Juvenile Huntington Disease |
|
Bradykinesia, Weight loss, Depression |
ORPHA:248111 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Failure to thrive |
OMIM:615838 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Poor appetite, Diarrhea, Dysphagia, Nausea |
ORPHA:352447 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Chronic diarrhea, Failure to thrive, Intestinal inflammation |
OMIM:619858 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:620137 |
| Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Depression, Bradykinesia, Weight loss, Apathy, Decreased body mass index |
ORPHA:399 |
| Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:616069 |
| Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting |
OMIM:264350 |
| Aredyld Syndrome |
|
Cachexia |
ORPHA:1133 |
| Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy |
ORPHA:858 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Lethargy, Vomiting, Dysphagia |
OMIM:607483 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Feeding difficulties in infancy, Depression, Macroglossia, Constipation, Macroorchidism, Lethargy... |
ORPHA:90674 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Steatorrhea, Hematochezia, Acholic stools, Hepatic failure, Failure to thrive |
OMIM:613812 |
| Methylmalonic Aciduria, Cblb Type |
|
Feeding difficulties in infancy, Lethargy, Failure to thrive, Vomiting |
OMIM:251110 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive |
OMIM:209920 |
| X-Linked Intellectual Disability, Cabezas Type |
|
High palate, Decreased testicular size, Cachexia, Obesity |
ORPHA:85293 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Lethargy, Hepatic failure |
ORPHA:156 |
| Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... |
ORPHA:79325 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
| Renal Hypoplasia, Bilateral |
|
Small for gestational age, Cryptorchidism, Feeding difficulties, Lethargy, Failure to thrive |
ORPHA:97362 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Inflammation of the large intestine, Colitis |
OMIM:619281 |
| Microsporidiosis |
|
Anorexia, Cachexia, Abdominal pain, Peritonitis, Chronic diarrhea, Weight loss, Vomiting, Intermi... |
ORPHA:2552 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Apathy, Lethargy, Episodic vomiting |
ORPHA:20 |
| Immunodeficiency 15B |
|
Chronic diarrhea, Failure to thrive |
OMIM:615592 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
| X-Linked Agammaglobulinemia |
|
Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive |
ORPHA:47 |
| Immunodeficiency 46 |
|
Chronic diarrhea, Failure to thrive |
OMIM:616740 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Failure to thrive, Vomiting, Feeding difficulties |
OMIM:210210 |
| Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size |
OMIM:300215 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Hepatic failure, Esophageal varix, Vomiting, Protuberant abdomen... |
OMIM:278000 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss |
ORPHA:1842 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Lethargy, Failure to thrive, Feeding difficulties |
OMIM:201470 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Weight loss, Furrowed tongue, Failure t... |
ORPHA:37 |
| Scrub Typhus |
|
Nausea and vomiting, Lethargy, Abdominal pain |
ORPHA:83317 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Anal atresia |
ORPHA:647 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... |
ORPHA:100078 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Malabsorption |
OMIM:602347 |
| Immunodeficiency 27A |
|
Diarrhea, Anorexia, Weight loss |
OMIM:209950 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esoph... |
ORPHA:1018 |
| Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... |
ORPHA:330001 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Cryptorchidism, Xerostomia, Obesity, Abdominal obesity, Lethargy, Failure to thrive, Decreased te... |
ORPHA:398079 |
| Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
| Meningococcal Meningitis |
|
Lethargy, Projectile vomiting, Anorexia |
ORPHA:33475 |
| Alobar Holoprosencephaly |
|
Cleft palate, Depression, Feeding difficulties, Gastroesophageal reflux, High palate, Apathy, Dys... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Cleft palate, Depression, Feeding difficulties, Gastroesophageal reflux, High palate, Apathy, Dys... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Cleft palate, Depression, Feeding difficulties, Gastroesophageal reflux, High palate, Apathy, Dys... |
ORPHA:93924 |
| Cog4-Cdg |
|
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... |
ORPHA:263501 |
| Semilobar Holoprosencephaly |
|
Cleft palate, Depression, Feeding difficulties, Gastroesophageal reflux, High palate, Apathy, Dys... |
ORPHA:220386 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Narrow palate, High palate, Vomiting, Lethargy |
OMIM:608836 |
| Young-Onset Parkinson Disease |
|
Gastroparesis, Diarrhea, Depression, Bradykinesia, Constipation, Apathy, Nausea |
ORPHA:2828 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease |
OMIM:616100 |
| Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
| Nephroblastoma |
|
Neoplasm of the liver, Abdominal pain, Weight loss |
ORPHA:654 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Abdominal pain, Protein avoidance, Vomiting, Lethargy, Failure to thrive |
OMIM:311250 |
| Citrullinemia, Classic |
|
Protein avoidance, Lethargy, Failure to thrive, Vomiting |
OMIM:215700 |
| Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties |
OMIM:177735 |
| Biotinidase Deficiency |
|
Feeding difficulties in infancy, Lethargy, Diarrhea, Vomiting |
OMIM:253260 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Bipolar affective disorder, Gastroparesis, Depression, Bradykinesia, Gastroesophageal reflux, Con... |
ORPHA:254892 |
| Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Depression, Weight loss, Feeding difficulties |
ORPHA:221098 |
| Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
| Immunodeficiency 17 |
|
Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, ... |
OMIM:615607 |
| Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Chronic diarrhea, Failure to thrive |
OMIM:615285 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Lethargy, Poor suck, Chronic hepat... |
ORPHA:746 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... |
ORPHA:679 |
| Shigellosis |
|
Failure to thrive in infancy, Anorexia, Abdominal pain, Intestinal perforation, Peritonitis, Ulce... |
ORPHA:810 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy |
ORPHA:90673 |
| Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Lethargy, Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
| Trisomy 18 |
|
Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia |
ORPHA:3380 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
| Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Malnutrition, Depression, Decreased body weight, Fat malabsorption |
ORPHA:96180 |
| Oromandibular Dystonia |
|
Depression, Weight loss, Dysphagia |
ORPHA:93958 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Failure to thrive |
ORPHA:277 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Isolated Atp Synthase Deficiency |
|
Lethargy |
ORPHA:254913 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peritonitis,... |
ORPHA:90038 |
| Ogden Syndrome |
|
High, narrow palate, Lethargy, Cryptorchidism |
ORPHA:276432 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
| Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
| Evans Syndrome |
|
Lethargy |
ORPHA:1959 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
| Medulloblastoma |
|
Nausea and vomiting, Lethargy, Adenomatous colonic polyposis |
ORPHA:616 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
| Galactosemia I |
|
Diarrhea, Failure to thrive, Vomiting, Decreased liver function |
OMIM:230400 |
| Methylmalonic Aciduria, Cbla Type |
|
Feeding difficulties in infancy, Lethargy, Failure to thrive, Vomiting |
OMIM:251100 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Diarrhea, Abnormal testis morphology, Weight loss |
ORPHA:54251 |
| Congenital Myopathy 20 |
|
Chronic diarrhea, Failure to thrive, High palate |
OMIM:620310 |
| Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
| Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight loss, Episodic abdomina... |
ORPHA:361 |
| Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Depression, Melena... |
ORPHA:652 |
| Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Weight loss |
ORPHA:767 |
| Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis |
OMIM:618394 |
| Argininosuccinic Aciduria |
|
Feeding difficulties in infancy, Protein avoidance, Vomiting, Lethargy, Failure to thrive |
OMIM:207900 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
| Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
| Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
| Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
| Holocarboxylase Synthetase Deficiency |
|
Feeding difficulties in infancy, Lethargy, Vomiting |
OMIM:253270 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, High palate |
OMIM:614069 |
| Immunodeficiency 40 |
|
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula |
OMIM:616433 |
| Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
| Fatal Familial Insomnia |
|
Weight loss, Constipation, Dysphagia |
OMIM:600072 |
| Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi... |
OMIM:175200 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Failure to thrive |
OMIM:618495 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Overweight, Lethargy, Depression |
ORPHA:99832 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss |
ORPHA:411703 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
| Snakebite Envenomation |
|
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea |
ORPHA:449285 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting |
ORPHA:79456 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... |
ORPHA:436159 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Chronic diarrhea, Inflammation of the large intestine, Failure t... |
ORPHA:98813 |
| Immunodeficiency 56 |
|
Chronic diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Hepatic f... |
OMIM:615207 |
| Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Weig... |
ORPHA:913 |
| Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
| Complement Component 4B Deficiency |
|
Chronic diarrhea |
OMIM:614379 |
| Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Depression, Pseudobul... |
ORPHA:79276 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Villous atrophy, Ileus, Chronic diarrhea |
OMIM:304790 |
| Hereditary Late-Onset Parkinson Disease |
|
Depression, Bradykinesia, Weight loss, Chronic constipation, Apathy, Dysphagia |
ORPHA:411602 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Protein avoidance, Feeding difficulties, Decreased liver function, Hepatic failure, Lethargy, Fai... |
ORPHA:415 |
| Caspase 8 Deficiency |
|
Chronic diarrhea, Failure to thrive |
OMIM:607271 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Diarrhea, Protracted diarrhea, Failure to thrive secondary to recurrent infections, Anorexia |
ORPHA:169160 |
| Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy... |
OMIM:614162 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Lethargy, Failure to thrive,... |
OMIM:229600 |
| Sepsis In Premature Infants |
|
Small for gestational age, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enteroco... |
ORPHA:90051 |
| Isolated Complex I Deficiency |
|
Lethargy, Failure to thrive, Vomiting, Feeding difficulties |
ORPHA:2609 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Small for gestational age, Feeding difficulties in infancy, Cryptorchidism, Cleft palate, High pa... |
OMIM:614866 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Weight loss, Neoplasm of the l... |
ORPHA:100085 |
| Perry Syndrome |
|
Bradykinesia, Weight loss, Apathy, Depression |
OMIM:168605 |
| Igg4-Related Aortitis |
|
Abdominal pain, Intestinal obstruction, Weight loss |
ORPHA:449400 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... |
ORPHA:2176 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Chronic diarrhea |
OMIM:618523 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Esophageal varix, Increased body weight, Hepatocellular adenoma, Vomiting, Failure to t... |
ORPHA:264580 |
| Schwartz-Jampel Syndrome |
|
Cachexia, Feeding difficulties in infancy, Cleft palate, High palate, Decreased body weight, Test... |
ORPHA:800 |
| Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroenteritis, Sto... |
ORPHA:39812 |
| Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Severe Combined Immunodeficiency, X-Linked |
|
Chronic diarrhea, Failure to thrive |
OMIM:300400 |
| Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Failure to thrive, Feeding difficulties |
OMIM:602473 |
| Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Feeding difficulties in infancy, Lethargy, Failure to thrive |
ORPHA:395 |
| Trichinellosis |
|
Lethargy, Apathy, Nausea, Dysphagia |
ORPHA:863 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
| Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Cachexia |
OMIM:610965 |
| Neuroblastoma, Susceptibility To, 1 |
|
Abdominal pain, Diarrhea, Failure to thrive, Weight loss |
OMIM:256700 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Weight loss |
ORPHA:312 |
| Immunodeficiency, Common Variable, 2 |
|
Diarrhea |
OMIM:240500 |
| Klatskin Tumor |
|
Cholangiocarcinoma, Abdominal pain, Weight loss |
ORPHA:99978 |
| Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
| Takayasu Arteritis |
|
Gastrointestinal infarctions, Anorexia, Weight loss |
ORPHA:3287 |
| Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... |
ORPHA:100093 |
| Huntington Disease-Like 1 |
|
Bradykinesia, Weight loss, Depression |
ORPHA:157941 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Esophage... |
ORPHA:36426 |
| Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
| Encephalitis Lethargica |
|
Lethargy, Bowel incontinence |
ORPHA:83600 |
| Immunodeficiency 7 |
|
Diarrhea, Failure to thrive |
OMIM:615387 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Orchitis, Abdo... |
ORPHA:342 |
| Shwachman-Diamond Syndrome 2 |
|
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:617941 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea |
OMIM:612692 |
| Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Dysphagia |
ORPHA:99824 |
| Pseudo-Torch Syndrome 2 |
|
Lethargy |
OMIM:617397 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... |
ORPHA:486 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Failure to thrive in infancy |
OMIM:618805 |
| B4Galt1-Cdg |
|
Diarrhea, Small for gestational age |
ORPHA:79332 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Gastroesophageal reflux, Cons... |
ORPHA:732 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Chronic diarrhea, Inflammation of the large intestine, Failure to thrive, Esophageal varix |
OMIM:614576 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Weight loss, Apathy, Vomiting |
ORPHA:134 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Feeding difficulties in infancy, Abdominal distention, Macroglossia, Constipation, Lethargy |
OMIM:218700 |
| Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Protracted diarrhea |
ORPHA:572 |
| Imerslund-Gräsbeck Syndrome |
|
Poor appetite, Weight loss, Vomiting, Constipation, Failure to thrive, Glossitis |
ORPHA:35858 |
| Systemic Capillary Leak Syndrome |
|
Abdominal pain, Diarrhea, Weight loss |
ORPHA:188 |
| 19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy, Hepatic failure |
ORPHA:159 |
| Classic Hodgkin Lymphoma |
|
Poor appetite, Anorexia, Weight loss |
ORPHA:391 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Depression, Vomiting, Nausea |
ORPHA:324636 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Poor appetite, Weight loss |
ORPHA:324964 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Esophageal varix, Feeding difficulties, Azoospermia, Gastric ulcer |
ORPHA:2072 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Lethargy, Failure to thrive, Abdominal distention, Hepatic failure |
OMIM:617156 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Lethargy |
OMIM:212138 |
| Staphylococcal Necrotizing Pneumonia |
|
Lethargy |
ORPHA:36238 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Feeding difficulties in infancy, Lethargy, Failure to thrive |
OMIM:277400 |
| Melas |
|
Bipolar affective disorder, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea... |
ORPHA:550 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Colitis, Failure to thrive in infancy |
OMIM:301220 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Colitis, Enterocolitis, Abdominal pain |
OMIM:619802 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Lethargy |
OMIM:229700 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Episodic abdominal pain, Weight loss, Nausea |
ORPHA:100086 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea, Failure to thrive |
OMIM:619484 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Feeding difficulties, Stomatitis, Lethargy, Failure to thrive, Glossitis |
ORPHA:79282 |
| Specific Granule Deficiency 2 |
|
Intractable diarrhea, Failure to thrive |
OMIM:617475 |
| Lysinuric Protein Intolerance |
|
Diarrhea, Hepatic failure, Feeding difficulties, Vomiting, Steatorrhea, Lethargy, Failure to thrive |
ORPHA:470 |
| Wilson Disease |
|
Acute hepatic failure, Increased body weight, Weight loss, Depression, Failure to thrive |
ORPHA:905 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea, Failure to thrive |
OMIM:618050 |
| Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Weight loss, Hem... |
ORPHA:97282 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Chronic diarrhea, Failure to thrive in infancy, Abdominal pain |
OMIM:617099 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent aphthous stomatitis |
OMIM:150550 |
| Glycerol Kinase Deficiency |
|
Cryptorchidism, Episodic vomiting, Small for gestational age, Lethargy |
OMIM:307030 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain, Weight loss, Gastroes... |
ORPHA:183 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Malabsorption |
ORPHA:83471 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Increased body weight, Hepatocellular adenoma, Vomiting, Hepatocellular carcinoma, Nausea |
ORPHA:79240 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea, Failure to thrive |
OMIM:212065 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
| Complete Atrioventricular Septal Defect |
|
Lethargy, Failure to thrive, Feeding difficulties |
ORPHA:1329 |
| Immunodeficiency 9 |
|
Stomatitis, Chronic diarrhea, Failure to thrive, Recurrent aphthous stomatitis |
OMIM:612782 |
| Immunodeficiency, Common Variable, 1 |
|
Diarrhea |
OMIM:607594 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
| Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
| Kufor-Rakeb Syndrome |
|
Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy |
ORPHA:306674 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... |
ORPHA:500055 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Diarrhea, Peritonitis, Gastroin... |
ORPHA:727 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Diarrhea, Malabsorption |
OMIM:240300 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic diarrhea |
OMIM:614699 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting |
OMIM:223900 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Chronic diarrhea, Failure to thrive |
OMIM:619824 |
| Histiocytoid Cardiomyopathy |
|
Lethargy, Failure to thrive, Vomiting, Cleft palate |
ORPHA:137675 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Nausea, Abdominal pain, Intestinal perforation, Diarrhea, Secretory diarrhea, Bloody diarrhea, Ga... |
ORPHA:544482 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Malabsorption, Intestina... |
ORPHA:537 |
| Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Vomiting |
ORPHA:93552 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Chronic diarrhea, Esophageal stricture, Failure to thrive, Oral leukoplakia |
OMIM:613989 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
| Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Steatorrhea, Failure to thrive, Exocrine pancre... |
OMIM:219700 |
| Non-Functioning Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:94080 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Episodic vomiting |
OMIM:615751 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
| Reactive Arthritis |
|
Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st... |
ORPHA:29207 |
| Mirage Syndrome |
|
Cryptorchidism, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Decreased body w... |
OMIM:617053 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Anorexia, Abdominal pain, Orchitis, Odynophagia, Diarr... |
ORPHA:99826 |
| Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:704 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colit... |
OMIM:614700 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic diarrhea, Colitis, Stomatitis, Failure to thrive, Recurrent infection of the gastrointest... |
ORPHA:911 |
| Boutonneuse Fever |
|
Diarrhea, Nausea, Abdominal pain |
ORPHA:83313 |
| Caroli Disease |
|
Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdominal rigidity, ... |
ORPHA:53035 |
| Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia |
OMIM:252930 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
| Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal... |
ORPHA:160 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Chronic diarrhea, Intestinal obstruction, Failure to thrive |
OMIM:600802 |
| Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:56425 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Lethargy |
OMIM:277410 |
| Stickler Syndrome |
|
Slender build, Cachexia, Feeding difficulties in infancy, Cleft palate, Macroglossia, Glossoptosi... |
ORPHA:828 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea |
OMIM:615084 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
| Focal Myositis |
|
Weight loss |
ORPHA:48918 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Feeding difficulties in infancy, Vomiting, Hepatic failure, Lethargy, Failure to thrive |
OMIM:252010 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Overweight, Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy |
ORPHA:226307 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Addison Disease |
|
Nausea and vomiting, Primary testicular failure, Anorexia, Abdominal pain, Celiac disease, Diarrh... |
ORPHA:85138 |
| Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
| Malakoplakia |
|
Abdominal pain, Orchitis, Diarrhea, Neoplasm of the rectum, Neoplasm of the colon |
ORPHA:556 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Gastritis, Abdominal pain, Hematemesis, Diarrhea, Peritonitis, Enter... |
ORPHA:73263 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Failure to thrive, Rectal abscess |
OMIM:601495 |
| Familial Mediterranean Fever |
|
Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, V... |
OMIM:249100 |
| Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Dysphagia |
OMIM:616457 |
| Solitary Fibrous Tumor |
|
Neoplasm of the liver, Constipation, Weight loss |
ORPHA:2126 |
| Cockayne Syndrome |
|
Cachexia, Feeding difficulties in infancy, Cryptorchidism, Gastroesophageal reflux, Gastrostomy t... |
ORPHA:191 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Feeding difficulties in infancy, Failure to thrive in infancy, Vomiting, Weight loss |
ORPHA:171876 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... |
ORPHA:436252 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Malabsorption |
ORPHA:33226 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Small for gestational age, Malabsorption |
OMIM:601675 |
| Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Weight loss, Hepatic failure |
ORPHA:97287 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Nausea, Poor appetite |
ORPHA:542323 |
| Glycine Encephalopathy |
|
Lethargy, Poor suck |
ORPHA:407 |
| Giant Cell Arteritis |
|
Anorexia, Abdominal pain, Weight loss, Depression, Gastrointestinal infarctions, Hepatic failure,... |
ORPHA:397 |
| Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Diarrhea, Intestinal pseudo-obstruction |
OMIM:309900 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Lethargy |
OMIM:620306 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610768 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Intermittent diarrhea, Failure to thrive |
OMIM:619644 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy |
OMIM:606367 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal... |
OMIM:613385 |
| Immunodeficiency 58 |
|
Helicobacter pylori infection, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis, Esophagi... |
OMIM:618131 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Constipation, Vomiting |
ORPHA:32960 |
| Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Diarrhea, Failure to thrive |
ORPHA:525731 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:2902 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Hematochezia, Inflammation of the large intestine, Colonic eosinophilia, Failure... |
OMIM:617718 |
| Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
OMIM:131100 |
| Immunodeficiency 59 And Hypoglycemia |
|
Chronic diarrhea, High palate, Recurrent aphthous stomatitis, Malabsorption |
OMIM:233600 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Failure to t... |
OMIM:615895 |
| Immunodeficiency 22 |
|
Diarrhea, Failure to thrive, Protracted diarrhea |
OMIM:615758 |
| Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
| Marfan Syndrome |
|
High, narrow palate, Cachexia, Slender build, Cleft palate |
ORPHA:558 |
| Relapsing Fever |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:91547 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
| Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
| Gm1 Gangliosidosis |
|
Weight loss, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Dysphagia, Failure to t... |
ORPHA:354 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation |
OMIM:608654 |
| Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Gastroparesis, Abdominal ... |
ORPHA:85443 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
| Mevalonic Aciduria |
|
Diarrhea, Failure to thrive, Failure to thrive in infancy, Vomiting |
OMIM:610377 |
| Camurati-Engelmann Disease |
|
Feeding difficulties in infancy, Slender build, Cachexia, Anorexia |
ORPHA:1328 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Diarrhea, Failure to thrive in infancy, Chronic hepatic failure, Recurrent gastroenteritis |
ORPHA:79124 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
| Leishmaniasis |
|
Anorexia, Weight loss |
ORPHA:507 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ... |
ORPHA:464321 |
| Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Diarrhea, Abdominal pain |
ORPHA:36412 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
| Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Failure to th... |
ORPHA:95409 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Hepatic failu... |
OMIM:256810 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Weight loss |
ORPHA:3226 |
| Lujo Hemorrhagic Fever |
|
Odynophagia, Fulminant hepatitis, Diarrhea, Vomiting, Abdominal cramps, Dysphagia, Nausea |
ORPHA:319213 |
| Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:33577 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Weight loss, Hematochezia, Bloody diarrhea, Feeding di... |
OMIM:615846 |
| Dominant Beta-Thalassemia |
|
Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma |
ORPHA:231226 |
| Diamond-Blackfan Anemia |
|
Small for gestational age, Cleft soft palate, High palate, Adenocarcinoma of the colon, Lethargy |
ORPHA:124 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Failure to thrive, Feeding difficulties, Dysphagia |
OMIM:620358 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy |
OMIM:618183 |
| Amoebiasis Due To Free-Living Amoebae |
|
Lethargy, Vomiting, Nausea |
ORPHA:68 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Weight loss, Depression |
OMIM:137440 |
| Legionnaires Disease |
|
Nausea and vomiting, Diarrhea, Anorexia, Abdominal pain |
ORPHA:549 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea |
OMIM:619849 |
| Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
| Immunodeficiency 92 |
|
Chronic diarrhea, Esophagitis |
OMIM:619652 |
| Chronic Graft Versus Host Disease |
|
Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Weight loss, Abnormal esoph... |
ORPHA:99921 |
| Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea |
ORPHA:90035 |
| Mucopolysaccharidosis, Type Iiib |
|
Diarrhea |
OMIM:252920 |
| Thymoma |
|
Neoplasm of the gastrointestinal tract, Ulcerative colitis, Weight loss |
ORPHA:99867 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Intestinal pseudo-obstruction, Depression, Weight loss, Dysphagia |
OMIM:607459 |
| Mucopolysaccharidosis, Type Iiia |
|
Diarrhea |
OMIM:252900 |
| Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Small for gestational age, Bloody diarrhea, Colitis, Hepatoblastoma, ... |
ORPHA:84064 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Diarrhea, Failure to thrive |
OMIM:308230 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea |
ORPHA:457279 |
| Sapho Syndrome |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea |
ORPHA:793 |
| Posterior Urethral Valve |
|
Lethargy |
ORPHA:93110 |
| Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
| Avian Influenza |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:454836 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Malabsorption, Weight loss |
ORPHA:79430 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Failure to thrive |
ORPHA:276 |
| Biotinidase Deficiency |
|
Lethargy |
ORPHA:79241 |
| Deeah Syndrome |
|
Malabsorption, Cryptorchidism, Chronic diarrhea, Narrow palate, Chronic constipation, High palate... |
OMIM:619004 |
| Tropical Pancreatitis |
|
Malnutrition, Vomiting, Nausea, Weight loss |
ORPHA:103918 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Parathyroid Carcinoma |
|
Nausea and vomiting, Peptic ulcer, Testicular neoplasm, Episodic abdominal pain, Weight loss, Con... |
ORPHA:143 |
| Rat-Bite Fever |
|
Diarrhea, Vomiting, Parotitis, Weight loss |
ORPHA:31205 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
| Cocaine Intoxication |
|
Abdominal pain, Intestinal perforation, Bloody diarrhea, Gastrointestinal infarctions, Colitis, V... |
ORPHA:90068 |
| Lysinuric Protein Intolerance |
|
Protein avoidance, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to thrive, Nausea |
OMIM:222700 |
| Beta-Thalassemia Major |
|
Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma |
ORPHA:231214 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
| Omenn Syndrome |
|
Chronic diarrhea, Failure to thrive |
ORPHA:39041 |
| Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Steatorrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High ... |
OMIM:618268 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss |
ORPHA:370348 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Inflammation of the large in... |
ORPHA:79259 |
| Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... |
ORPHA:221016 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Diarrhea, Esophageal carcinoma, Enterocolitis, Abnormal intestine morphology |
ORPHA:391487 |
| Plague |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Depression, Bloody diarrhea, Infl... |
ORPHA:707 |
| Omenn Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:603554 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss |
ORPHA:729 |
| Good Syndrome |
|
Diarrhea, Dysphagia |
ORPHA:169105 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... |
ORPHA:221008 |
| Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea, Rectal abscess |
OMIM:116920 |
| Mucopolysaccharidosis, Type Iiid |
|
Macroglossia, Diarrhea, Tube feeding, Dysphagia |
OMIM:252940 |
| Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Decreased testicular size |
OMIM:300953 |
| Acute Radiation Syndrome |
|
Diarrhea, Vomiting |
ORPHA:454831 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
| Proximal Renal Tubular Acidosis |
|
Diarrhea, Failure to thrive, Vomiting, Malabsorption |
ORPHA:47159 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation, Dysphagia |
ORPHA:93672 |
| Exercise-Induced Malignant Hyperthermia |
|
Vomiting, Decreased liver function, Lethargy, Hepatic failure, Nausea |
ORPHA:466650 |
| Malt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Constipation, Weight loss |
ORPHA:52417 |
| Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea |
OMIM:617765 |
| Cockayne Syndrome Type 1 |
|
Cryptorchidism, Diarrhea, Failure to thrive |
ORPHA:90321 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... |
OMIM:619573 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Chronic diarrhea, Failure to thrive |
ORPHA:169154 |
| Bacterial Toxic-Shock Syndrome |
|
Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea |
ORPHA:36234 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding |
ORPHA:221139 |
| Acute Monoblastic/Monocytic Leukemia |
|
Anorexia, Weight loss |
ORPHA:514 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Neoplasm of th... |
ORPHA:653 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Chronic diarrhea, Failure to thrive |
OMIM:242700 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Small for gestational age, Hepatic failure, Intractable diarrhea, Failure to thr... |
OMIM:222470 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
| Acute Promyelocytic Leukemia |
|
Stomatitis, Abdominal pain, Anorexia, Weight loss |
ORPHA:520 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Diarrhea, Cleft palate, Recurrent infection of the gastrointestinal tract, Anal at... |
OMIM:251260 |
| 8P23.1 Microdeletion Syndrome |
|
Cryptorchidism, High palate, Obesity, Weight loss |
ORPHA:251071 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Chronic diarrhea, Chronic constipation, High palate, Decreased body weight |
OMIM:619005 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea |
ORPHA:294023 |
| Hemorrhagic Fever-Renal Syndrome |
|
Abdominal pain, Hematemesis, Diarrhea, Melena, Vomiting, Decreased body weight, Nausea |
ORPHA:340 |
| Alg9-Cdg |
|
Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula |
ORPHA:79328 |
| Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Gastrointestinal hemorrhage, Weight loss |
ORPHA:91139 |
| Short Syndrome |
|
Poor appetite, Weight loss |
ORPHA:3163 |
| Sandhoff Disease |
|
Macroglossia, Chronic diarrhea, Episodic abdominal pain |
OMIM:268800 |
| Idiopathic Hypereosinophilic Syndrome |
|
Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, Chronic dia... |
ORPHA:3260 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:276621 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Esophageal spasms, Odynophagia, Episodic abdominal pain, Dysphagia, Lethargy |
ORPHA:447 |
| Distal Renal Tubular Acidosis |
|
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Rectovaginal fistula, Failur... |
ORPHA:35078 |
| Immunodeficiency 25 |
|
Protracted diarrhea |
OMIM:610163 |
| Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
| Multiple Endocrine Neoplasia Type 4 |
|
Peptic ulcer, Testicular neoplasm, Diarrhea, Episodic abdominal pain, Zollinger-Ellison syndrome,... |
ORPHA:276152 |
| Cerebrotendinous Xanthomatosis |
|
Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Brucellosis |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Anorexia, Abdominal pain, O... |
ORPHA:1304 |
| Hyper-Igd Syndrome |
|
Diarrhea, Chronic diarrhea, Vomiting, Abdominal pain |
OMIM:260920 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Diarrhea |
OMIM:619313 |
| Abetalipoproteinemia |
|
Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:14 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Chronic diarrhea, Diarrhea, Failure to thrive |
OMIM:102700 |
| Dubowitz Syndrome |
|
Anal stenosis, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard palate, Chron... |
ORPHA:235 |
| Japanese Encephalitis |
|
Diarrhea, Vomiting, Anorexia, Abdominal pain |
ORPHA:79139 |
| Wiskott-Aldrich Syndrome |
|
Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in... |
OMIM:301000 |
| Riddle Syndrome |
|
Abdominal pain, Diarrhea, Weight loss |
ORPHA:420741 |
| Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormality of the tongue muscle, Nasog... |
ORPHA:273 |
| Farber Disease |
|
Chronic diarrhea, Hepatic failure, Failure to thrive, Feeding difficulties |
ORPHA:333 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Weight loss, Hydrocele testis, Constipation |
ORPHA:49041 |
| Proteus Syndrome |
|
Macroorchidism, Cachexia, Testicular neoplasm |
ORPHA:744 |
| Hurler Syndrome |
|
Macroglossia, Chronic diarrhea, Feeding difficulties, Depression |
ORPHA:93473 |
| Congenital Disorder Of Glycosylation, Type It |
|
Chronic diarrhea, Vomiting, Bifid uvula, Cleft palate |
OMIM:614921 |
| Aicardi-Goutieres Syndrome 9 |
|
Failure to thrive, Feeding difficulties, Weight loss |
OMIM:619487 |
| Hydranencephaly |
|
Lethargy |
ORPHA:2177 |
| Adrenocortical Carcinoma |
|
Abdominal pain, Increased body weight, Weight loss |
ORPHA:1501 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Furrowed tongue |
OMIM:158310 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Small for gestational age, Protruding tongue, Chronic diarrhea, Narrow palate, Recurrent gastroen... |
ORPHA:99843 |
| Cystic Echinococcosis |
|
Abdominal symptom, Abnormality of the testis size, Weight loss |
ORPHA:400 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Diarrhea, Failure to thrive in infancy, Poor appetite |
ORPHA:247598 |
| Rothmund-Thomson Syndrome |
|
Nasogastric tube feeding in infancy, Diarrhea, Small for gestational age, Vomiting |
ORPHA:2909 |
| Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting |
ORPHA:230 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Malabsorption, Orchitis, Abdominal pa... |
ORPHA:117 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Protracted diarrhea |
ORPHA:331206 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| Dubowitz Syndrome |
|
Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submucous cleft ha... |
OMIM:223370 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... |
ORPHA:95455 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Cryptorchidism, Chronic diarrhea, Episodic vomiting, Obesity, Feeding diffic... |
OMIM:615873 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... |
ORPHA:2020 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Chronic diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract |
OMIM:612132 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
| Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen, Hepatocellular carcinoma |
OMIM:232200 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chronic diarrhea, Abnormal tongue morphology, Failure to thrive, Anoperineal fistula |
ORPHA:158668 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Chronic diarrhea, Failure to thrive |
OMIM:602450 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Abdominal distention, Diarrhea, Malnutrition, Dependency on parenteral nutriti... |
OMIM:619991 |
| Mucopolysaccharidosis Type 3 |
|
Malabsorption, Macroglossia, Constipation, Protuberant abdomen, Dysphagia, Intermittent diarrhea |
ORPHA:581 |
| Zttk Syndrome |
|
Feeding difficulties in infancy, Submucous cleft hard palate, Chronic diarrhea, Feeding difficult... |
OMIM:617140 |
| Tropical Endomyocardial Fibrosis |
|
Malnutrition, Cachexia |
ORPHA:75565 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Intestinal malrotation, Feeding difficulties, Intermittent diarrhea, F... |
ORPHA:2255 |
| Selective Igm Deficiency |
|
Stomach cancer, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Crohn's disease |
ORPHA:331235 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Diarrhea, Increased b... |
ORPHA:99889 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Weight loss |
ORPHA:139402 |
| Fanconi Anemia |
|
Meckel diverticulum, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Cryptorchidism, Trac... |
ORPHA:84 |
| Renal Nutcracker Syndrome |
|
Abdominal pain, Nausea, Weight loss |
ORPHA:71273 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Episodic abdominal pain, Nausea, Weight loss |
ORPHA:29072 |
| Ogden Syndrome |
|
Tube feeding, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficulties, Hydrocele testis, Hi... |
OMIM:300855 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Depression, Vomiting, Nausea |
ORPHA:90062 |
| Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive |
OMIM:601678 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Diarrhea, Feeding difficulties, Vomiting, Dysphagia, Failure to thrive |
OMIM:606721 |
| Chikungunya |
|
Diminished motivation, Vomiting, Diarrhea, Depression |
ORPHA:324625 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Failure to thrive, Feeding difficulties |
OMIM:618278 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight ... |
ORPHA:900 |
| Pearson Syndrome |
|
Small for gestational age, Exocrine pancreatic insufficiency, Chronic diarrhea, Dysphagia, Steato... |
ORPHA:699 |
| Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Obesity |
OMIM:620072 |
| Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea |
OMIM:235400 |
| Kawasaki Disease |
|
Nausea and vomiting, Diarrhea, Glossitis, Abdominal pain |
ORPHA:2331 |
| Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Weight loss |
ORPHA:29073 |
| Listeriosis |
|
Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea |
ORPHA:533 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Weight loss |
ORPHA:79128 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Increased body weight, Weight loss, Decreased body weight, Abnormal s... |
ORPHA:2298 |
| Alveolar Echinococcosis |
|
Abdominal pain, Vomiting, Decreased liver function, Weight loss |
ORPHA:284 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Chronic diarrhea |
OMIM:616005 |
| Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Diarrhea, Constipation, Vomiting, Failure to thrive |
OMIM:241200 |
| Gitelman Syndrome |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Constipation, Failure to thrive |
ORPHA:358 |
| Oculopharyngodistal Myopathy 1 |
|
Weight loss, High palate, Dysphagia |
OMIM:164310 |
| Crimean-Congo Hemorrhagic Fever |
|
Nausea and vomiting, Anorexia, Abdominal pain, Orchitis, Hematemesis, Diarrhea, Melena, Hepatic f... |
ORPHA:99827 |
| Nmda Receptor Encephalitis |
|
Diarrhea, Depression, Vomiting, Testicular teratoma, Mania |
ORPHA:217253 |
| Postinfectious Vasculitis |
|
Anorexia, Abdominal pain, Orchitis, Weight loss, Gastrointestinal inflammation, Unusual gastroint... |
ORPHA:48435 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Diarrhea |
OMIM:307200 |
| Eisenmenger Syndrome |
|
Lethargy, Abdominal distention |
ORPHA:97214 |
| Immunodeficiency 47 |
|
Chronic diarrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:300972 |
| Thyrotoxic Periodic Paralysis |
|
Constipation, Obesity, Weight loss |
ORPHA:79102 |
| Wiskott-Aldrich Syndrome |
|
Hematochezia, Inflammation of the large intestine, Chronic diarrhea, Hematemesis |
ORPHA:906 |
| Erdheim-Chester Disease |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:35687 |
| Viss Syndrome |
|
Chronic gastritis, Failure to thrive, Duodenitis, Intestinal malrotation, Cleft soft palate, Subm... |
OMIM:619472 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
| Yellow Fever |
|
Abdominal pain, Hematemesis, Diarrhea, Vomiting, Nausea |
ORPHA:99829 |
| Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
| Occipital Horn Syndrome |
|
Chronic diarrhea, High palate, Hiatus hernia |
OMIM:304150 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Weight loss, Anorexia, Abnormal salivary gland morphology |
OMIM:181000 |
| Immunodeficiency 55 |
|
Diarrhea |
OMIM:617827 |
| Agammaglobulinemia, X-Linked |
|
Chronic diarrhea, Hepatocellular carcinoma |
OMIM:300755 |
| Choreoacanthocytosis |
|
Protruding tongue, Dysphagia, Depression, Bradykinesia, Weight loss, Apathy, Self-neglect |
ORPHA:2388 |
| Q Fever |
|
Anorexia, Weight loss |
ORPHA:781 |
| African Trypanosomiasis |
|
Diarrhea, Weight loss, Apathy, Vomiting, Nausea |
ORPHA:3385 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Mucolipidosis Type Ii |
|
Gastrostomy tube feeding in infancy, Protuberant abdomen, Weight loss |
ORPHA:576 |
| Ataxia-Telangiectasia |
|
Chronic diarrhea, Failure to thrive |
OMIM:208900 |
| Pyomyositis |
|
Weight loss, Testicular teratoma |
ORPHA:764 |
| Dermatomyositis |
|
Gastrointestinal stroma tumor, Feeding difficulties in infancy, Weight loss |
ORPHA:221 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Weight loss, Dysphagia, Exocrine pancrea... |
OMIM:219800 |
| Scorpion Envenomation |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:466677 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dy... |
ORPHA:500150 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Weight loss, Enlargement of parotid gland, Abnormal salivary gland morphology, Abnorm... |
ORPHA:79078 |
| Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:50918 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
| Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea, Depression |
ORPHA:909 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
| Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Vomiting, Weight loss |
ORPHA:91347 |
| Nocardiosis |
|
Peritonitis, Vomiting, Anorexia, Weight loss |
ORPHA:31204 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss |
ORPHA:99885 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Testicular adrenal rest tumor, Weight loss, Feeding difficulties, Vomiting, Failure to thrive, De... |
ORPHA:90794 |
| Igg4-Related Kidney Disease |
|
Abdominal pain, Sialadenitis, Decreased liver function, Weight loss |
ORPHA:449395 |
| Leptospirosis |
|
Nausea and vomiting, Diarrhea, Anorexia, Abdominal pain |
ORPHA:509 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Chronic diarrhea |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2 |
|
Macroglossia, Chronic diarrhea |
ORPHA:580 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Chronic diarrhea |
ORPHA:217093 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
| Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Weight loss, Enlargement of parotid gland, Decreased l... |
ORPHA:797 |
| Pulmonary Alveolar Microlithiasis |
|
Testicular microlithiasis, Weight loss |
ORPHA:60025 |
| Aspartylglucosaminuria |
|
Macroorchidism, Macroglossia, Diarrhea |
OMIM:208400 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, High palate, Ankyloglossia, Weight loss |
ORPHA:740 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Abdominal pain, Anorexia, Weight loss |
ORPHA:91500 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
