Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Diarrhea 9 |
|
Villous atrophy, Failure to thrive, Diarrhea |
OMIM:618168 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive |
OMIM:615863 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Diarrhea 11, Malabsorptive, Congenital |
|
Villous atrophy, Diarrhea |
OMIM:618662 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... |
OMIM:613662 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Nephrolithiasis, Malabsorption |
OMIM:222900 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... |
OMIM:619079 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, ... |
OMIM:606528 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... |
OMIM:620045 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
5-Oxoprolinase Deficiency |
|
Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-py... |
OMIM:260005 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit... |
OMIM:612075 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Small Bowel Atresia |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... |
ORPHA:1201 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... |
OMIM:175500 |
Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... |
ORPHA:2290 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Diarrhea, Malabsorption |
OMIM:600955 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
Idiopathic Achalasia |
|
Weight loss, Gastroesophageal reflux, Malnutrition, Dysphagia |
ORPHA:930 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea |
OMIM:614328 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Wolman Disease |
|
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... |
ORPHA:75233 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Diarrhea, Hepatic failure, Renal cyst, Proximal tubulopathy, Protein-losing ente... |
OMIM:602579 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... |
ORPHA:298 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria |
OMIM:614265 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:52416 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Fail... |
OMIM:606824 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
Alexander Disease Type I |
|
Failure to thrive, Vomiting, Cachexia, Dysphagia |
ORPHA:363717 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... |
ORPHA:2070 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
Isolated Congenital Hypoglossia/Aglossia |
|
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi... |
ORPHA:141152 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, Failure to t... |
OMIM:616050 |
Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Spinocerebellar Ataxia 48 |
|
Urinary incontinence, Cachexia, Dysphagia |
OMIM:618093 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... |
ORPHA:263665 |
Desmoplastic Small Round Cell Tumor |
|
Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, ... |
ORPHA:83469 |
Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Immunodeficiency 104 |
|
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss, Prot... |
ORPHA:398063 |
Jejunal Atresia |
|
Jejunal atresia |
OMIM:243600 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding |
OMIM:619510 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption |
OMIM:229050 |
Hypercholanemia, Familial 1 |
|
Fat malabsorption, Failure to thrive, Steatorrhea |
OMIM:607748 |
Reticular Dysgenesis |
|
Failure to thrive, Diarrhea, Weight loss, Malabsorption |
ORPHA:33355 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
Volvulus Of Midgut |
|
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... |
OMIM:193250 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... |
OMIM:155310 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... |
OMIM:300048 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... |
OMIM:174900 |
Immunodeficiency, Common Variable, 11 |
|
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea |
OMIM:615767 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Laryngotracheoesophageal Cleft Type 4 |
|
Tracheoesophageal fistula, Cachexia, Intestinal atresia |
ORPHA:93941 |
Attrv30M Amyloidosis |
|
Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Christianson Syndrome |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia |
ORPHA:85278 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive, Nocturia |
ORPHA:178029 |
Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Feeding difficulties |
ORPHA:157973 |
Alpha-Heavy Chain Disease |
|
Abnormal small intestine morphology, Abdominal pain, Malabsorption |
ORPHA:100025 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... |
ORPHA:35710 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... |
ORPHA:79319 |
Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive |
OMIM:209920 |
X-Linked Creatine Transporter Deficiency |
|
Constipation, Ileus, Aganglionic megacolon, Cachexia |
ORPHA:52503 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea |
OMIM:614102 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Obesity, Feeding difficulties |
OMIM:620270 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... |
ORPHA:79076 |
Pancreatic Lipase Deficiency |
|
Fat malabsorption, Steatorrhea |
OMIM:614338 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cachexia, Diarrhea, Vomiting, Decr... |
ORPHA:42 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... |
ORPHA:90362 |
Immunodeficiency 48 |
|
Diarrhea, Failure to thrive |
OMIM:269840 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Failure to thrive |
OMIM:304790 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties |
OMIM:616801 |
Malignant Peritoneal Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss |
ORPHA:168811 |
Renpenning Syndrome |
|
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia |
ORPHA:3242 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Protein-losing enteropathy, Lacticaciduria |
OMIM:619063 |
Riboflavin Transporter Deficiency |
|
Cachexia, Dysphagia |
ORPHA:97229 |
Sandhoff Disease, Juvenile Form |
|
Urinary incontinence, Diarrhea, Constipation, Dysphagia, Failure to thrive |
ORPHA:309162 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss, Anorexia, Oral-pharyngeal dysphagia |
ORPHA:100083 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma |
OMIM:601847 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
Pfapa Syndrome |
|
Nausea and vomiting, Abdominal pain, Weight loss, Malabsorption |
ORPHA:42642 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive |
ORPHA:314 |
Galactose Epimerase Deficiency |
|
Nausea and vomiting, Aminoaciduria, Feeding difficulties, Weight loss |
ORPHA:79238 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive |
OMIM:618108 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration |
OMIM:221400 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Chronic diarrhea, Nephrotic syndr... |
ORPHA:79327 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea |
OMIM:235555 |
Mungan Syndrome |
|
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Mcdonough Syndrome |
|
Cryptorchidism, Cachexia |
ORPHA:2471 |
Peritoneal Cystic Mesothelioma |
|
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation |
ORPHA:168816 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:607765 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:71 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Abdominal pain... |
ORPHA:275761 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomi... |
OMIM:143880 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Aa Amyloidosis |
|
Proteinuria, Malabsorption, Abdominal pain, Chronic diarrhea, Chronic kidney disease, Malnutritio... |
ORPHA:85445 |
Tetrasomy 12P |
|
Abnormal soft palate morphology, Cachexia, Anal atresia |
ORPHA:884 |
Ring Chromosome 10 Syndrome |
|
Aganglionic megacolon, Cachexia |
ORPHA:1438 |
Chronic Hiccup |
|
Malnutrition, Weight loss |
ORPHA:396 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
Undifferentiated Pleomorphic Sarcoma |
|
Anorexia, Weight loss |
ORPHA:2023 |
Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100082 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa... |
ORPHA:85450 |
Porphyria, Acute Intermittent |
|
Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting,... |
OMIM:176000 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic ac... |
OMIM:248360 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Cachexia, High palate, Narrow palate |
OMIM:618186 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... |
ORPHA:371364 |
Majeed Syndrome |
|
Proteinuria, Microscopic hematuria, Cachexia, Malabsorption, Weight loss, Failure to thrive |
ORPHA:77297 |
Silver-Russell Syndrome |
|
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficultie... |
ORPHA:813 |
Immunodeficiency 19 |
|
Failure to thrive, Chronic diarrhea |
OMIM:615617 |
Rett Syndrome |
|
Constipation, Gastroesophageal reflux, Cachexia |
OMIM:312750 |
Netherton Syndrome |
|
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... |
OMIM:256500 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Anorexia, Cachexia, Malabsorption, Abdominal pain, Diarrhea |
ORPHA:3452 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Tubu... |
ORPHA:37042 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Failure to thrive |
OMIM:613501 |
Cog7-Cdg |
|
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties |
ORPHA:79333 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia... |
OMIM:557000 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Pelizaeus-Merzbacher Disease |
|
Cachexia, Failure to thrive in infancy, Bowel incontinence |
ORPHA:702 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to thrive |
OMIM:264350 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Fat malabsorption, Failure to thrive, Diarrhea |
OMIM:211600 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Cryptorchidism, Diarrhea, Abdominal distention, Protein-losing enteropathy, Vomiting, Decreased l... |
OMIM:608104 |
Yao Syndrome |
|
Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis, Weight loss |
OMIM:617321 |
Neuroendocrine Tumor Of The Colon |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Melena, Protracted di... |
ORPHA:100080 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic aciduria, Methylmalonic aciduria, Vomiting, Intermittent diarrhea, Failure to thrive... |
ORPHA:289504 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections |
OMIM:601457 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... |
ORPHA:131 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy... |
OMIM:614162 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Obesity, Enuresis, Constipation, Gastroesophageal reflux, D... |
ORPHA:589821 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Aminoaciduria, Methylmalonic aciduria |
ORPHA:1933 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:228600 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis |
OMIM:617638 |
Isolated Agammaglobulinemia |
|
Diarrhea, Failure to thrive, Malabsorption |
ORPHA:229717 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis |
ORPHA:2221 |
Alg6-Cdg |
|
Macroglossia, Failure to thrive, Protein-losing enteropathy, Feeding difficulties |
ORPHA:79320 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chronic diarrhea,... |
OMIM:619858 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea, Enlarged kidney |
OMIM:615285 |
Infantile Krabbe Disease |
|
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom... |
ORPHA:206436 |
Immunodeficiency 69 |
|
Diarrhea, Failure to thrive |
OMIM:618963 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... |
ORPHA:1267 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Pancreas, Annular |
|
High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Nephropathy, Proteinuria, Cachexia |
ORPHA:2774 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Purple urine, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, I... |
ORPHA:100924 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colit... |
OMIM:614700 |
Dracunculiasis |
|
Nausea and vomiting, Diarrhea |
ORPHA:231 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Proteinuria, Feeding difficulties in infancy, Diarrhea, Renal cyst, Nephrotic sy... |
OMIM:212065 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:620137 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis |
OMIM:619164 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... |
ORPHA:1333 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Poor appetite, Diarrhea, Nephrolithiasis, Dysphagia, Nausea |
ORPHA:352447 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:616069 |
Galactosemia I |
|
Diarrhea, Albuminuria, Aminoaciduria, Vomiting, Galactosuria, Increased level of galactitol in ur... |
OMIM:230400 |
Methionine Malabsorption Syndrome |
|
Diarrhea, Aminoaciduria |
OMIM:250900 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... |
OMIM:226300 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... |
ORPHA:228371 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Gastrostomy tube feeding in infancy, Urinary incontinence, Cachexia, Dysphagia |
ORPHA:300605 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, B... |
ORPHA:100075 |
19Q13.11 Microdeletion Syndrome |
|
Hypospadias, Cachexia, Cryptorchidism, Feeding difficulties, Failure to thrive |
ORPHA:217346 |
Immunodeficiency 15B |
|
Failure to thrive, Chronic diarrhea |
OMIM:615592 |
Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy |
OMIM:606367 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... |
ORPHA:927 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis |
OMIM:613960 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties |
OMIM:618154 |
Inflammatory Pseudotumor Of The Liver |
|
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea |
ORPHA:90003 |
Wild Type Attr Amyloidosis |
|
Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr... |
ORPHA:330001 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Weight loss, Dysphagia |
ORPHA:1332 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss |
ORPHA:33276 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Protein-losing enteropathy |
OMIM:613502 |
Immunodeficiency 46 |
|
Failure to thrive, Chronic diarrhea |
OMIM:616740 |
Rhabdoid Tumor |
|
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver |
ORPHA:69077 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Weight loss, Abdo... |
ORPHA:98850 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Blue Diaper Syndrome |
|
Nephrocalcinosis, Blue urine, Diarrhea, Increased body weight |
ORPHA:94086 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney... |
ORPHA:1018 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties |
OMIM:177735 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal... |
OMIM:270420 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Acute kidney injury |
ORPHA:54057 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation |
ORPHA:254504 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive |
OMIM:242860 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive, Glossitis |
ORPHA:90045 |
Aredyld Syndrome |
|
Abnormality of the ureter, Cachexia |
ORPHA:1133 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... |
OMIM:613489 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... |
OMIM:617788 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding |
ORPHA:163961 |
Colonic Atresia |
|
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Diarrhea, Hepatic failure, Hematochezia, Acholic stools, Steatorrhea, Failure to thrive |
OMIM:613812 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,... |
OMIM:301074 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Small for gestational age, Renal hypoplasia, Bloody diarrhea, Colitis... |
ORPHA:84064 |
Autosomal Agammaglobulinemia |
|
Diarrhea, Failure to thrive, High palate, Malabsorption |
ORPHA:33110 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome |
ORPHA:2575 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ... |
OMIM:212750 |
Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy |
ORPHA:858 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate, Micropenis, Decreased testicular size |
OMIM:300215 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Microsporidiosis |
|
Cachexia, Anorexia, Abdominal pain, Nephritis, Peritonitis, Chronic diarrhea, Urethritis, Weight ... |
ORPHA:2552 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive, Ethylmalonic aciduria |
ORPHA:51188 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... |
ORPHA:100078 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... |
OMIM:619381 |
Hyperprolinemia Type 2 |
|
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abdominal pain, Diarrhea,... |
ORPHA:79101 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ... |
OMIM:256700 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Anorexia, Weight loss |
ORPHA:86893 |
Oculopharyngodistal Myopathy |
|
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... |
ORPHA:98897 |
Pleural Mesothelioma |
|
Weight loss, Dysphagia |
ORPHA:50251 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... |
ORPHA:100079 |
Nephroblastoma |
|
Hematuria, Neoplasm of the liver, Abdominal pain, Weight loss |
ORPHA:654 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97278 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Fat malabsorption, Failure to thrive, Hepatic failure |
OMIM:214950 |
Immunodeficiency 27A |
|
Diarrhea, Anorexia, Weight loss |
OMIM:209950 |
Typhoid |
|
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain |
ORPHA:99745 |
Shigellosis |
|
Failure to thrive in infancy, Anorexia, Abdominal pain, Intestinal perforation, Hemolytic-uremic ... |
ORPHA:810 |
Fatal Familial Insomnia |
|
Urinary retention, Weight loss, Constipation, Dysphagia |
OMIM:600072 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Anuria, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peri... |
ORPHA:90038 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss |
ORPHA:1842 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain |
OMIM:615399 |
Complement Component 4B Deficiency |
|
Chronic diarrhea |
OMIM:614379 |
Primary Myelofibrosis |
|
Cachexia, Anorexia |
ORPHA:824 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hypoplasia of penis, Cachexia, Obesity, High palate, Decreased testicular size |
ORPHA:85293 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abdominal pain, Diarrhea, Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypospadias, Small for gestational age, Galactosuria, Hepatic failure, Intractab... |
OMIM:222470 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... |
ORPHA:79325 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Diarrhea, Failure to thrive |
ORPHA:277 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Hepatic failure, Esophageal varix, Vomiting, Protuberant abdomen... |
OMIM:278000 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive |
OMIM:560000 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Inflammation of the large intestine, Colitis |
OMIM:619281 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Trigonocephaly 1 |
|
High, narrow palate, Meckel diverticulum, Long penis |
OMIM:190440 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Renal salt wasting, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight los... |
ORPHA:361 |
Liposarcoma |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:69078 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... |
ORPHA:319218 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... |
ORPHA:90291 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Chronic diarrhea, Ethylmalonic aciduria, Feeding difficulties |
OMIM:602473 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Pollakisuria, Anal at... |
ORPHA:647 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... |
ORPHA:263501 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... |
ORPHA:109 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Diarrhea, Failure to thrive |
OMIM:618495 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
Parenteral Nutrition-Associated Cholestasis |
|
Villous atrophy, Hepatic failure, Small for gestational age, Abdominal pain |
ORPHA:567983 |
Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
X-Linked Agammaglobulinemia |
|
Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive |
ORPHA:47 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss |
ORPHA:411703 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t... |
ORPHA:37 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Malabsorption |
OMIM:602347 |
Adiposis Dolorosa |
|
Constipation, Xerostomia, Obesity, Diarrhea |
ORPHA:36397 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... |
ORPHA:913 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97283 |
Immunodeficiency 17 |
|
Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, ... |
OMIM:615607 |
Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... |
ORPHA:144 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Diarrhea, Dicarboxylic aciduria, Vomiting |
OMIM:212140 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Ileal ulcer |
OMIM:616744 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Bloody diarr... |
OMIM:175200 |
Mednik Syndrome |
|
Volvulus, Jejunal atresia, Microcolon, Diarrhea |
OMIM:609313 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease |
OMIM:616100 |
Snakebite Envenomation |
|
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Acute kidney injury |
ORPHA:449285 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... |
OMIM:619573 |
Grfoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97261 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... |
OMIM:601346 |
Congenital Myopathy 20 |
|
Failure to thrive, Chronic diarrhea, High palate |
OMIM:620310 |
Caspase 8 Deficiency |
|
Failure to thrive, Chronic diarrhea |
OMIM:607271 |
Trisomy 18 |
|
Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Hydronephrosis, Anal a... |
ORPHA:3380 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Abdominal pain, Diarrhea, Oliguria, Weight loss |
ORPHA:188 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Cog8-Cdg |
|
Failure to thrive, Protein-losing enteropathy |
ORPHA:95428 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... |
ORPHA:679 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Anorexia, Diarrhea, Failure to thrive secondary to recurrent infections, Protracted diarrhea |
ORPHA:169160 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Diarrhea, Esophageal carcinoma, Functional abnormality of the bladder, Enterocol... |
ORPHA:391487 |
Immunodeficiency 56 |
|
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic f... |
OMIM:615207 |
Necrotizing Enterocolitis |
|
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight loss, Constipatio... |
ORPHA:199299 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis |
OMIM:618394 |
Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... |
ORPHA:440437 |
Igg4-Related Aortitis |
|
Abdominal pain, Intestinal obstruction, Hydronephrosis, Weight loss |
ORPHA:449400 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Diarrhea, High palate |
OMIM:614069 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting |
ORPHA:79456 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatic failure, Renal cyst, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:79303 |
Sepsis In Premature Infants |
|
Small for gestational age, Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Enteroco... |
ORPHA:90051 |
Acute Intermittent Porphyria |
|
Dark urine, Nausea and vomiting, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pa... |
ORPHA:79276 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Malabsorption, O... |
ORPHA:342 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... |
ORPHA:97280 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Short hard palate, Cachexia, Anorexia |
ORPHA:1969 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Urethrovesical occlusion, Congenital pyloric atresia |
OMIM:226730 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... |
ORPHA:94080 |
Mu-Heavy Chain Disease |
|
Nephropathy, Bence Jones Proteinuria, Weight loss |
ORPHA:100024 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Chronic diarrhea |
OMIM:300400 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
Immunodeficiency 40 |
|
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula |
OMIM:616433 |
Immunodeficiency 7 |
|
Diarrhea, Failure to thrive |
OMIM:615387 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Abnormal urinary color, Diarrhea |
ORPHA:56425 |
Classic Galactosemia |
|
Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
Trichothiodystrophy 3, Photosensitive |
|
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficulties, Failure to... |
OMIM:616395 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... |
ORPHA:36426 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Abdominal pain |
ORPHA:99828 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Chronic diarrhea |
OMIM:619484 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea |
OMIM:612692 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Neurogenic bladder, Diarrhea, Malnutrition, Decreased body weight, Fat malabsorption |
ORPHA:96180 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Large for gestational age, Diarrhea, Increased body weight, Renal Fanconi syndrome, ... |
ORPHA:263455 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia |
OMIM:610965 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting, Glome... |
OMIM:223900 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Decreased urinary potassium, Renal salt wasting, Diarrhea, Proximal renal tu... |
ORPHA:427 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Failure to thrive in infancy |
OMIM:618805 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Duodenal stenosis |
ORPHA:2547 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria, Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis |
ORPHA:35858 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis... |
ORPHA:264580 |
Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Duodenal stenosis |
ORPHA:1759 |
Alg9-Cdg |
|
Villous atrophy, Ureteral hypoplasia, Diarrhea, Hydronephrosis, Gastroesophageal reflux, Vomiting... |
ORPHA:79328 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria |
ORPHA:90035 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Oliguria, Dysphagia |
ORPHA:99824 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Weight loss, Episodic abdominal pain, Neoplasm of the l... |
ORPHA:100085 |
Polyarteritis Nodosa |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Weight loss |
ORPHA:767 |
Anaplastic Thyroid Carcinoma |
|
Weight loss, Tracheoesophageal fistula, Dysphagia |
ORPHA:142 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Macroglossia, Chronic diarrhea |
OMIM:618523 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea |
OMIM:240500 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... |
ORPHA:2929 |
Malakoplakia |
|
Proteinuria, Dysuria, Abdominal pain, Orchitis, Urinary bladder inflammation, Diarrhea, Neoplasm ... |
ORPHA:556 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Failure to thrive, Inflammation of the large intestine, Chronic ... |
ORPHA:98813 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Poor appetite, Weight loss |
ORPHA:312 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... |
ORPHA:436159 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... |
ORPHA:90363 |
Shwachman-Diamond Syndrome 2 |
|
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:617941 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Cons... |
ORPHA:469 |
Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroenteritis, Sto... |
ORPHA:39812 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Urethral stricture, Chronic diarrhea, Colitis, Failure to thrive in infancy |
OMIM:301220 |
Boutonneuse Fever |
|
Renal insufficiency, Diarrhea, Nausea, Abdominal pain |
ORPHA:83313 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Abdomina... |
ORPHA:93552 |
Schwartz-Jampel Syndrome |
|
Cachexia, Feeding difficulties in infancy, Abnormality of the ureter, Nephrolithiasis, Cleft pala... |
ORPHA:800 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Inflammation of the large intestin... |
OMIM:614576 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... |
ORPHA:2176 |
B4Galt1-Cdg |
|
Diarrhea, Small for gestational age |
ORPHA:79332 |
Gallbladder Neuroendocrine Tumor |
|
Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea |
ORPHA:100086 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... |
ORPHA:100093 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Chronic diarrhea, Failure to thrive in infancy, Abdominal pain |
OMIM:617099 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-u... |
OMIM:619644 |
Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
Immunodeficiency 9 |
|
Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis |
OMIM:612782 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Vom... |
OMIM:301500 |
Metachromatic Leukodystrophy |
|
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde... |
ORPHA:512 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Abdominal pain, Peritoniti... |
ORPHA:727 |
Developmental And Epileptic Encephalopathy 50 |
|
Failure to thrive, Diarrhea, Renal tubular acidosis, Dysphagia, Oroticaciduria |
OMIM:616457 |
Turcot Syndrome With Polyposis |
|
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... |
ORPHA:99818 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent aphthous stomatitis |
OMIM:150550 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci... |
ORPHA:47159 |
Klatskin Tumor |
|
Cholangiocarcinoma, Abdominal pain, Weight loss |
ORPHA:99978 |
Erythrokeratodermia Variabilis |
|
Abnormal testis morphology, Weight loss |
ORPHA:317 |
Immunodeficiency, Common Variable, 7 |
|
Chronic diarrhea |
OMIM:614699 |
Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyuria, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing ... |
OMIM:618183 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Renal insufficiency, Intestinal o... |
ORPHA:160 |
Carnitine Palmitoyltransferase I Deficiency |
|
Renal tubular acidosis, Diarrhea, Dicarboxylic aciduria, Feeding difficulties |
OMIM:255120 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, R... |
ORPHA:18 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Nausea, Abdominal pain, Intestinal perforation, Diarrhea, Secretory diarrhea, Oliguria, B... |
ORPHA:544482 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis, Vomiting, Hepato... |
ORPHA:79240 |
Oculoskeletodental Syndrome |
|
Small for gestational age, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, P... |
OMIM:618440 |
Polymyositis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Constipation, Gastroesophagea... |
ORPHA:732 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... |
ORPHA:486 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Nausea, Poor appetite, Diarrhea, Vomiting, Acute kidney injury, Decreased urine output |
ORPHA:542323 |
Serkal Syndrome |
|
Abnormal penis morphology, Malrotation of small bowel, Hypospadias |
ORPHA:139466 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
Familial Mediterranean Fever |
|
Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Episodic abdomin... |
OMIM:249100 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... |
ORPHA:537 |
Immunodeficiency, Common Variable, 1 |
|
Diarrhea |
OMIM:607594 |
Specific Granule Deficiency 2 |
|
Intractable diarrhea, Failure to thrive |
OMIM:617475 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Steatorrhea, Failure to thrive,... |
OMIM:219700 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Protracted diarrhea |
ORPHA:572 |
Classic Hodgkin Lymphoma |
|
Poor appetite, Anorexia, Weight loss |
ORPHA:391 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Cryptorchidism, Abdominal distention, Cleft palate, High palate, Protein-losing enteropathy, Micr... |
OMIM:235255 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Proteinuria, Malabsorption, Abd... |
ORPHA:183 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea |
OMIM:619824 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria |
OMIM:275350 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Esophageal stricture, Chronic diarrhea, Failure to thrive, Oral leukoplakia |
OMIM:613989 |
Cat Eye Syndrome |
|
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Horseshoe ki... |
OMIM:115470 |
Caroli Disease |
|
Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdominal rigidity, ... |
ORPHA:53035 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea |
OMIM:615084 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Feeding difficulties in infancy, Vomiting, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Pemphigus Vulgaris |
|
Feeding difficulties in infancy, Weight loss |
ORPHA:704 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation, Urinary incontinence |
OMIM:608654 |
Glossopharyngeal Neuralgia |
|
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties |
ORPHA:221098 |
Huntington Disease |
|
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia |
ORPHA:399 |
Relapsing Fever |
|
Abdominal pain, Diarrhea, Hematuria, Vomiting, Acute kidney injury |
ORPHA:91547 |
Mucopolysaccharidosis, Type Iiic |
|
Heparan sulfate excretion in urine, Diarrhea, Dysphagia |
OMIM:252930 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... |
ORPHA:500055 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Diarrhea, Vomiting... |
ORPHA:71212 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Nephrocalcinosis, Atrophic gastritis, Diarrhea, Malabsorption |
OMIM:240300 |
Takayasu Arteritis |
|
Gastrointestinal infarctions, Anorexia, Weight loss |
ORPHA:3287 |
Cholera |
|
Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Vomiting, Abdominal cramp... |
ORPHA:173 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Decreased testicular size, Poor appetite |
OMIM:201100 |
Mirage Syndrome |
|
Hypospadias, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Mic... |
OMIM:617053 |
Addison Disease |
|
Nausea and vomiting, Primary testicular failure, Anorexia, Decreased urinary potassium, Celiac di... |
ORPHA:85138 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Urinary retention, Constipation, Weight loss |
ORPHA:2126 |
Citrullinemia Type Ii |
|
Diarrhea, Enuresis, Vomiting, Hepatocellular carcinoma, Decreased body mass index |
ORPHA:247585 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Chronic diarrhea, Nephrotic syndrome, Colitis, Stomatitis, Failure to thrive, Recurrent infection... |
ORPHA:911 |
Matthew-Wood Syndrome |
|
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Fai... |
ORPHA:2470 |
Beta-Ketothiolase Deficiency |
|
Ketonuria, Anorexia, Diarrhea, Weight loss, Vomiting |
ORPHA:134 |
Holocarboxylase Synthetase Deficiency |
|
Nausea and vomiting, Organic aciduria, Anorexia, Weight loss |
ORPHA:79242 |
Cockayne Syndrome |
|
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... |
ORPHA:191 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea, Failure to thrive |
OMIM:618050 |
Abetalipoproteinemia |
|
Fat malabsorption |
OMIM:200100 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea |
ORPHA:98849 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610768 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Poor appetite, Weight loss |
ORPHA:324964 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High palate, Hep... |
OMIM:311900 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Feeding difficulties... |
OMIM:608836 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Renal insufficiency, Gastritis, Abdominal pain, Hematemesis, Diarrhe... |
ORPHA:73263 |
Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Colitis, Enterocolitis, Abdominal pain |
OMIM:619802 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss, Dysphagia |
ORPHA:216866 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Fat malabsorption, Hepatic failure |
ORPHA:79302 |
Igg4-Related Retroperitoneal Fibrosis |
|
Nausea and vomiting, Renal insufficiency, Dysuria, Anorexia, Abdominal pain, Renovascular hyperte... |
ORPHA:49041 |
Oromandibular Dystonia |
|
Weight loss, Dysphagia |
ORPHA:93958 |
Isolated Succinate-Coq Reductase Deficiency |
|
Vesicoureteral reflux, Feeding difficulties in infancy, Weight loss |
ORPHA:3208 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Tropical Pancreatitis |
|
Malnutrition, Vomiting, Nausea, Weight loss |
ORPHA:103918 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Esophageal varix, Feeding difficulties, Azoospermia, Gastric ulcer |
ORPHA:2072 |
Vipoma |
|
Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Weight loss, Hem... |
ORPHA:97282 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Renal insufficiency, Peptic ulcer, Renal hamartoma, Testicular neoplasm, Nep... |
ORPHA:143 |
Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Weight loss, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria |
ORPHA:36412 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Reactive Arthritis |
|
Abdominal pain, Diarrhea, Weight loss, Inflammation of the large intestine, Recurrent aphthous st... |
ORPHA:29207 |
Acquired Central Diabetes Insipidus |
|
Pollakisuria, Weight loss |
ORPHA:95626 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Immunodeficiency 22 |
|
Diarrhea, Failure to thrive, Protracted diarrhea |
OMIM:615758 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Renal insufficiency, Anorexia, Decreased urinary potassium, Renal salt wasti... |
ORPHA:95409 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:276621 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Melas |
|
Intestinal pseudo-obstruction, Proteinuria, Gastrointestinal dysmotility, Diarrhea, Focal segment... |
ORPHA:550 |
Mucopolysaccharidosis, Type Iiib |
|
Heparan sulfate excretion in urine, Diarrhea |
OMIM:252920 |
Al Amyloidosis |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Gast... |
ORPHA:85443 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Malabsorption |
ORPHA:83471 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Intestinal obstruction, Chronic diarrhea |
OMIM:600802 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Diarrhea, Dermatan sulfate exc... |
OMIM:309900 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... |
ORPHA:436252 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia |
ORPHA:220295 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea, Rectal abscess |
OMIM:601495 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation, Urinary incontinence |
OMIM:105210 |
Isolated Biliary Atresia |
|
Small for gestational age, Dark yellow urine, Acholic stools, Decreased liver function, Severe fa... |
ORPHA:30391 |
Legionnaires Disease |
|
Nausea and vomiting, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Diarrhea, Hematuria |
ORPHA:549 |
Mevalonic Aciduria |
|
Failure to thrive in infancy, Diarrhea, Vomiting, Failure to thrive, Elevated urine mevalonic aci... |
OMIM:610377 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Cryptorchidism, Abdominal distention, High palate, Protein-losing enteropathy, Micropenis, Hepati... |
ORPHA:1655 |
Mucopolysaccharidosis, Type Iiia |
|
Heparan sulfate excretion in urine, Diarrhea |
OMIM:252900 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Protein avoidance, Diarrhea, Malnutrition, Stage 5 chronic kidney disease, Tru... |
OMIM:222700 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Dysuria, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis,... |
OMIM:618131 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Hematuria, Vomiting, Nausea |
ORPHA:324636 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Anorexia, Malabsorption, Diarrhea |
ORPHA:33226 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea |
OMIM:619849 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Oroticaciduria, Chronic diarrhea, Feeding difficulties, Dysphagia, Failure to thrive |
OMIM:620358 |
Stickler Syndrome |
|
Slender build, Cachexia, Feeding difficulties in infancy, Cleft palate, Macroglossia, Glossoptosi... |
ORPHA:828 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Vesicoureter... |
OMIM:615895 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Diarrhea, Failure to thrive |
ORPHA:525731 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Orchitis, Peritonitis, Diarrhea, Vomiting, Constipation |
ORPHA:32960 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Cryptorchidism, Rectal prolapse, Narrow palate, Horseshoe kidney, Protein-losing ... |
OMIM:235510 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... |
ORPHA:210122 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Diarrhea, Urinary retention, Recurrent gastroenteritis, Chronic hep... |
ORPHA:79124 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Odynophagia, Diarrhea, Fulminant hepatitis, Oliguria, Vomiting, Abdominal cr... |
ORPHA:319213 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, 3-Methylglutaric aciduri... |
ORPHA:20 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Bloody diarrhea, Hematochezia, Inflammation of the large intestine, Colonic eosinophilia, Failure... |
OMIM:617718 |
Camurati-Engelmann Disease |
|
Cachexia, Anorexia, Feeding difficulties in infancy, Urinary retention, Slender build |
ORPHA:1328 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Abdominal pain, Hematemesis, Diarrhea, Chronic kidney di... |
ORPHA:340 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Hypospadias, Small for gestational age, Nasogastric tu... |
ORPHA:1708 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Diarrhea, Hepatocellular adenoma, Enterocolitis, Ulcerative colitis, Nephrocalcinosi... |
ORPHA:79259 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal... |
OMIM:613385 |
Chronic Graft Versus Host Disease |
|
Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea,... |
ORPHA:99921 |
Avian Influenza |
|
Diarrhea, Acute kidney injury, Vomiting, Abdominal pain |
ORPHA:454836 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Cryptorchidism, Malrotation of small bowel, Functional abnormality of the bladder, Nephrolithiasi... |
ORPHA:2953 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Small for gestational age, Malabsorption |
OMIM:601675 |
Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis |
OMIM:131100 |
Omenn Syndrome |
|
Nephrotic syndrome, Failure to thrive, Chronic diarrhea |
ORPHA:39041 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Increased urinary glycerol, Vomiting |
ORPHA:348 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
Nodular Non-Suppurative Panniculitis |
|
Nausea and vomiting, Abdominal pain, Weight loss |
ORPHA:33577 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Nephrolithiasis, H... |
ORPHA:652 |
Thymoma |
|
Neoplasm of the gastrointestinal tract, Glomerulonephritis, Ulcerative colitis, Weight loss |
ORPHA:99867 |
Serotonin Syndrome |
|
Diarrhea, Acute kidney injury, Nausea, Hepatic failure |
ORPHA:43116 |
Renal Nutcracker Syndrome |
|
Proteinuria, Abdominal pain, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria... |
ORPHA:71273 |
Biotinidase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Organic aciduria, Vomiting |
OMIM:253260 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea |
OMIM:617765 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper... |
OMIM:618213 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Protuberant abdomen, Hepatocell... |
OMIM:232200 |
Malt Lymphoma |
|
Nausea and vomiting, Abdominal pain, Constipation, Weight loss |
ORPHA:52417 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Nephrotic syndrome, Wei... |
OMIM:615846 |
Leishmaniasis |
|
Anorexia, Weight loss |
ORPHA:507 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... |
OMIM:601678 |
Scedosporiosis |
|
Abnormal jejunum morphology |
ORPHA:449280 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Failure to thrive |
OMIM:620233 |
Immunodeficiency 59 And Hypoglycemia |
|
Chronic diarrhea, High palate, Recurrent aphthous stomatitis, Malabsorption |
OMIM:233600 |
Gm1 Gangliosidosis |
|
Weight loss, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Dysphagia, Failure to t... |
ORPHA:354 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Elevated urinary catecholamine level, Elevated urinary norepinephrine leve... |
ORPHA:653 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Hepatic failu... |
OMIM:256810 |
Hereditary Late-Onset Parkinson Disease |
|
Chronic constipation, Weight loss, Spastic/hyperactive bladder, Dysphagia |
ORPHA:411602 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Nausea and vomiting, Weight loss |
ORPHA:3226 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Memb... |
ORPHA:91139 |
Marfan Syndrome |
|
High, narrow palate, Cachexia, Slender build, Cleft palate |
ORPHA:558 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ... |
ORPHA:464321 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting |
ORPHA:454831 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormality of the gastrointestinal tract, Weight loss |
ORPHA:2902 |
Hyper-Igd Syndrome |
|
Abdominal pain, Diarrhea, Chronic diarrhea, Vomiting, Renal angiomyolipoma, Elevated urine mevalo... |
OMIM:260920 |
Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Glomerulonephritis, Abdominal pain, Diarrhea, Peritonitis, Vomiting, Nausea |
ORPHA:36234 |
Omenn Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:603554 |
Dominant Beta-Thalassemia |
|
Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma |
ORPHA:231226 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Proteinuria, Glomerulonephritis, Ornithinuria, Diarrhea, Argininuria, Hepatic ... |
ORPHA:470 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Stomatitis, Diarrhea, Failure to thrive |
OMIM:308230 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Chronic diarrhea |
OMIM:242700 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Tarp Syndrome |
|
Failure to thrive, Cryptorchidism, Cleft palate, Horseshoe kidney, Glossoptosis, Abnormal duodenu... |
ORPHA:2886 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Abdominal pain, Weight loss, Hepatocellular carcinoma, Testicular atrophy, Ch... |
ORPHA:465508 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Micropenis, Chronic diarrhea, Decreased testicular size |
OMIM:300953 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Failure to thrive |
ORPHA:276 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Wilson Disease |
|
Acute hepatic failure, Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Rat-Bite Fever |
|
Diarrhea, Vomiting, Parotitis, Weight loss |
ORPHA:31205 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... |
ORPHA:29072 |
Immunodeficiency 92 |
|
Chronic diarrhea, Esophagitis |
OMIM:619652 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Giant Cell Arteritis |
|
Renal insufficiency, Anorexia, Abdominal pain, Weight loss, Hematuria, Gastrointestinal infarctio... |
ORPHA:397 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria, Anorexia, Weight loss |
ORPHA:514 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ... |
ORPHA:731 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Anal stenosis, Hypospadias, Cryptorchidism, Cleft palate, Duodenal stenosis, ... |
OMIM:617063 |
Cryptogenic Organizing Pneumonia |
|
Anorexia, Weight loss |
ORPHA:1302 |
Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Renal insufficiency, Anorexia, Malabsorption, Abdominal pain, Weight... |
ORPHA:79430 |
Acute Promyelocytic Leukemia |
|
Anorexia, Abdominal pain, Weight loss, Hematuria, Stomatitis |
ORPHA:520 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Failure to thrive, Diarrhea, Chronic diarrhea |
OMIM:102700 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Elevated urinary dopamine level, Vomiting, Nocturia |
ORPHA:230 |
Deeah Syndrome |
|
Malabsorption, Cryptorchidism, Chronic diarrhea, Narrow palate, Chronic constipation, High palate... |
OMIM:619004 |
Sapho Syndrome |
|
Malabsorption, Abdominal pain, Chronic diarrhea, Inflammation of the large intestine, Steatorrhea |
ORPHA:793 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Small for gestational age, Polyuria, Renal salt wasting, Increased urinary pota... |
OMIM:241200 |
Cockayne Syndrome Type 1 |
|
Renal insufficiency, Proteinuria, Cryptorchidism, Diarrhea, Failure to thrive |
ORPHA:90321 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Hematur... |
ORPHA:90068 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Chronic diarrhea |
ORPHA:169154 |
Colchicine Poisoning |
|
Renal insufficiency, Diarrhea, Oliguria, Vomiting, Nausea |
ORPHA:31824 |
Good Syndrome |
|
Diarrhea, Dysphagia |
ORPHA:169105 |
Congenital Tracheal Stenosis |
|
Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophageal fistula, Duodenal steno... |
ORPHA:141127 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... |
ORPHA:221016 |
Mucopolysaccharidosis, Type Iiid |
|
Heparan sulfate excretion in urine, Diarrhea, Dysphagia, Macroglossia, Tube feeding |
OMIM:252940 |
Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Decre... |
OMIM:618268 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea |
ORPHA:457279 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Diarrhea, Gastroesophageal reflux, Unilateral renal agenesis, Nasogastric tube feeding |
ORPHA:221139 |
Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Weight loss, Feeding difficulti... |
OMIM:619487 |
Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestin... |
ORPHA:221008 |
Peripheral Primitive Neuroectodermal Tumor |
|
Nausea and vomiting, Anorexia, Abdominal distention, Episodic abdominal pain, Weight loss |
ORPHA:370348 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Cryptorchidism, Chronic diarrhea, Chronic constipation, High palate, Decreased body weight, Micro... |
OMIM:619005 |
Beta-Thalassemia Major |
|
Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma |
ORPHA:231214 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Diarrhea, Cleft palate, Recurrent infection of the gastrointestinal tract, Hydrone... |
OMIM:251260 |
Dextrocardia |
|
Meckel diverticulum, Abnormality of the ureter, Intestinal malrotation |
ORPHA:1666 |
Sandhoff Disease |
|
Macroglossia, Chronic diarrhea, Urinary incontinence, Episodic abdominal pain |
OMIM:268800 |
Immunodeficiency 25 |
|
Protracted diarrhea |
OMIM:610163 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss |
ORPHA:729 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Abdominal pain, Weight loss, Constipation, Dysphagia |
ORPHA:93672 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Diarrhea |
OMIM:619313 |
Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea, Rectal abscess |
OMIM:116920 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hemolytic-uremic syndrome, Diarrhea, Anuria, Acute kidney injury |
OMIM:235400 |
Abetalipoproteinemia |
|
Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:14 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Riddle Syndrome |
|
Abdominal pain, Diarrhea, Weight loss, Enuresis nocturna |
ORPHA:420741 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Renal insufficiency, Abnormal large intestine physiolo... |
ORPHA:171 |
Congenital Disorder Of Glycosylation, Type It |
|
Chronic diarrhea, Cleft palate, Bifid uvula, Vomiting, Hydronephrosis |
OMIM:614921 |
Fryns Syndrome |
|
Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Large for gesta... |
OMIM:229850 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Abdominal pain, Increased body weight, Weight loss, Abnormality... |
ORPHA:1501 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea |
ORPHA:294023 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Cryptorchidism, Obesity, Weight loss, High palate |
ORPHA:251071 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased urinary cortisol level, Peptic ulcer, Testicular neoplasm, Diarrhea, Episodic abdominal... |
ORPHA:276152 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Intestinal malrotation, Hiatus hernia, Cryptorchidism, Cleft palate, Nephrotic syndrome, High pal... |
OMIM:601776 |
Cystic Echinococcosis |
|
Abdominal symptom, Abnormality of the testis size, Renal cyst, Weight loss, Membranous nephropathy |
ORPHA:400 |
Whim Syndrome |
|
Abnormal small intestine morphology, Parotitis |
ORPHA:51636 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria, Weight loss |
ORPHA:90060 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Tracheoesophageal fistula, ... |
OMIM:265380 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Hematuria, Furrowed tongue |
OMIM:158310 |
Cerebrotendinous Xanthomatosis |
|
Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Renal insufficiency, Weight loss, Tubulointerstitial nephritis, Nephrotic ... |
ORPHA:139402 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Rectovaginal fistula, Failur... |
ORPHA:35078 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Melena, Inflammation of the large in... |
OMIM:301000 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Increased urinary glycerol, Ketonuria, Failure to thrive in infancy,... |
ORPHA:247598 |
Gitelman Syndrome |
|
Nausea and vomiting, Proteinuria, Urinary incontinence, Decreased urinary potassium, Abdominal pa... |
ORPHA:358 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea, Elevated urinary prostaglandin E2 level |
OMIM:167100 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Dubowitz Syndrome |
|
Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, Submucous cleft hard ... |
ORPHA:235 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Hypospadias, Abdominal distention, Diarrhea, Peritonitis, Dependency on parent... |
OMIM:619991 |
Short Syndrome |
|
Poor appetite, Weight loss |
ORPHA:3163 |
Japanese Encephalitis |
|
Diarrhea, Vomiting, Anorexia, Abdominal pain |
ORPHA:79139 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Urethral stricture, Abnormal tongue morphology, Chronic diarrhea, Anoperineal fistula, Failure to... |
ORPHA:158668 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Farber Disease |
|
Failure to thrive, Chronic diarrhea, Hepatic failure, Feeding difficulties |
ORPHA:333 |
Idiopathic Hypereosinophilic Syndrome |
|
Malabsorption, Feeding difficulties in infancy, Abdominal pain, Abdominal distention, Chronic dia... |
ORPHA:3260 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Gastroparesis, Weight loss, Intestinal pseudo-obstruction, Dysphagia |
OMIM:607459 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Chronic diarrhea |
OMIM:602450 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Protracted diarrhea |
ORPHA:331206 |
Rothmund-Thomson Syndrome |
|
Small for gestational age, Nasogastric tube feeding in infancy, Diarrhea, Vomiting |
ORPHA:2909 |
Proteus Syndrome |
|
Cachexia, Testicular neoplasm, Long penis, Renal cyst, Macroorchidism |
ORPHA:744 |
Trisomy 8P |
|
Cryptorchidism, Malrotation of small bowel, Cleft palate, Nephrocalcinosis, Hydronephrosis, Const... |
ORPHA:264450 |
Fanconi Anemia |
|
Renal insufficiency, Hydroureter, Aganglionic megacolon, Hypospadias, Abnormal preputium morpholo... |
ORPHA:84 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Weight loss |
ORPHA:97289 |
Pearson Syndrome |
|
Renal insufficiency, Median cleft lip and palate, Proteinuria, Small for gestational age, Chronic... |
ORPHA:699 |
Dubowitz Syndrome |
|
Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submu... |
OMIM:223370 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract |
OMIM:612132 |
Zttk Syndrome |
|
Polyuria, Unilateral renal agenesis, Feeding difficulties in infancy, Chronic diarrhea, Submucous... |
OMIM:617140 |
Plague |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, Bloody diarrhea, Inflammation of ... |
ORPHA:707 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Cryptorchidism, Chronic diarrhea, Episodic vomiting, Obesity, Enuresis noctu... |
OMIM:615873 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Alveolar Echinococcosis |
|
Abdominal pain, Renal cyst, Weight loss, Vomiting, Decreased liver function |
ORPHA:284 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Ur... |
ORPHA:900 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, ... |
ORPHA:95455 |
Shwachman-Diamond Syndrome |
|
Abnormality of the gastrointestinal tract, Malnutrition, Steatorrhea, Fat malabsorption, Failure ... |
ORPHA:811 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Leukocyte Adhesion Deficiency Type Ii |
|
Small for gestational age, Protruding tongue, Chronic diarrhea, Narrow palate, Recurrent gastroen... |
ORPHA:99843 |
Brucellosis |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Glomerulonephritis, Anorexi... |
ORPHA:1304 |
Cystinosis, Nephropathic |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Failure to thrive in infancy, Oral... |
OMIM:219800 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Small for gestational age, Intestinal malrotation, Feeding difficulties, In... |
ORPHA:2255 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Anorexia, Abdominal pain, Orchiti... |
ORPHA:99826 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Ogden Syndrome |
|
Tube feeding, Global glomerulosclerosis, Cryptorchidism, Diarrhea, Narrow palate, Feeding difficu... |
OMIM:300855 |
Multiple Myeloma |
|
Functional abnormality of the gastrointestinal tract, Weight loss, Nephrotic syndrome, Nephropath... |
ORPHA:29073 |
Behçet Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Anorexia, Malabsorption, O... |
ORPHA:117 |
Kawasaki Disease |
|
Nausea and vomiting, Proteinuria, Abdominal pain, Diarrhea, Sterile pyuria, Glossitis |
ORPHA:2331 |
Mucopolysaccharidosis Type 3 |
|
Malabsorption, Heparan sulfate excretion in urine, Macroglossia, Mucopolysacchariduria, Constipat... |
ORPHA:581 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Fraser Syndrome 1 |
|
Abnormal small intestine morphology, Hypospadias, Cryptorchidism, Renal hypoplasia, Cleft palate,... |
OMIM:219000 |
Listeriosis |
|
Abdominal pain, Diarrhea, Peritonitis, Pyelonephritis, Vomiting, Acute kidney injury, Nausea |
ORPHA:533 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Anorexia, Abdominal pa... |
ORPHA:48435 |
Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Polyuria, Diarrhea, Feeding difficulties, Vomiting, Dysphagia, Failure... |
OMIM:606721 |
Congenital Fiber-Type Disproportion Myopathy |
|
Poor appetite, Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, High palat... |
ORPHA:2020 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Diarrhea, Failure to thrive, Feeding difficulties |
OMIM:618278 |
Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea, Obesity |
OMIM:620072 |
Tropical Endomyocardial Fibrosis |
|
Malnutrition, Cachexia |
ORPHA:75565 |
Immunodeficiency 36 With Lymphoproliferation |
|
Chronic diarrhea |
OMIM:616005 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Weight loss, Hydronephrosis |
ORPHA:35687 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Abnormality of the tongue muscle, Nasog... |
ORPHA:273 |
Thyrotoxic Periodic Paralysis |
|
Decreased urinary potassium, Obesity, Weight loss, Urinary retention, Constipation |
ORPHA:79102 |
Hurler Syndrome |
|
Macroglossia, Mucopolysacchariduria, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Abnormality of body weight, Increased body weight, Weight loss, Glycosuria, Abnormal... |
ORPHA:2298 |
Norrie Disease |
|
Cryptorchidism, Failure to thrive, Cachexia |
ORPHA:649 |
Selective Igm Deficiency |
|
Stomach cancer, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Crohn's disease |
ORPHA:331235 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Yellow Fever |
|
Renal insufficiency, Anuria, Abdominal pain, Hematemesis, Diarrhea, Vomiting, Acute kidney injury... |
ORPHA:99829 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Diarrhea |
OMIM:307200 |
Igg4-Related Kidney Disease |
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Renal insufficiency, Proteinuria, Abdominal pain, Urinary bladder inflammation, Chronic kidney di... |
ORPHA:449395 |
Occipital Horn Syndrome |
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Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticulum, High palate, Hydrone... |
OMIM:304150 |
Crimean-Congo Hemorrhagic Fever |
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Nausea and vomiting, Proteinuria, Anorexia, Abdominal pain, Hematemesis, Orchitis, Diarrhea, Mele... |
ORPHA:99827 |
Viss Syndrome |
|
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... |
OMIM:619472 |
Immunodeficiency 55 |
|
Diarrhea |
OMIM:617827 |
Immunodeficiency 47 |
|
Failure to thrive, Chronic diarrhea, Exocrine pancreatic insufficiency |
OMIM:300972 |
Autosomal Dominant Cutis Laxa |
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Unilateral renal agenesis, Pyelonephritis, Feeding difficulties, Bladder diverticulum, Vomiting, ... |
ORPHA:90348 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Increased urinary cortisol level, Neoplasm of the stomac... |
ORPHA:99889 |
Autosomal Recessive Cutis Laxa Type 1 |
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Pyloric stenosis, Pyelonephritis, Urethral diverticulum, Multiple bladder diverticula, Small bowe... |
ORPHA:90349 |
Acute Liver Failure |
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Gastrointestinal hemorrhage, Diarrhea, Vomiting, Acute kidney injury, Nausea |
ORPHA:90062 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss, High palate, Dysphagia |
OMIM:164310 |
Pyomyositis |
|
Renal insufficiency, Weight loss, Testicular teratoma |
ORPHA:764 |
Scorpion Envenomation |
|
Ketonuria, Abdominal pain, Diarrhea, Vomiting, Glycosuria, Acute kidney injury |
ORPHA:466677 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Wiskott-Aldrich Syndrome |
|
Hematemesis, Chronic diarrhea, Hematochezia, Inflammation of the large intestine, Nephropathy |
ORPHA:906 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Genitopatellar Syndrome |
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Anal stenosis, Multicystic kidney dysplasia, Cryptorchidism, Malrotation of small bowel, Feeding ... |
OMIM:606170 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Micropenis, Hypospadias, Weight loss |
OMIM:613673 |
Sarcoidosis, Susceptibility To, 1 |
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Anorexia, Hypercalciuria, Weight loss, Inflammation of the large intestine, Abnormal salivary gla... |
OMIM:181000 |
Q Fever |
|
Hematuria, Anorexia, Weight loss |
ORPHA:781 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Weight loss, Renal tubular dysfunction, Glycosuria, Moderate albumi... |
ORPHA:99885 |
Ataxia-Telangiectasia |
|
Failure to thrive, Chronic diarrhea |
OMIM:208900 |
Thrombocytopenia-Absent Radius Syndrome |
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Ureteral duplication, Cleft palate, Horseshoe kidney, Vesicoureteral reflux, Meckel diverticulum |
OMIM:274000 |
Poems Syndrome |
|
Weight loss |
ORPHA:2905 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Renal salt wasting, Long penis, Testicular adrenal rest tumor, Elevated urinary epinephrine level... |
ORPHA:90794 |
Agammaglobulinemia, X-Linked |
|
Chronic diarrhea, Hepatocellular carcinoma |
OMIM:300755 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Failure to thrive in infancy, Unilateral renal agenesis, Feeding difficulties in i... |
ORPHA:500150 |
Wolf-Hirschhorn Syndrome |
|
Hypospadias, Small for gestational age, Cryptorchidism, Malrotation of small bowel, Cleft palate,... |
OMIM:194190 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Weight loss, Enlargement of parotid gland, Tubulointerstitial nephritis, Abnormal sal... |
ORPHA:79078 |
Mucolipidosis Type Ii |
|
Gastrostomy tube feeding in infancy, Protuberant abdomen, Weight loss |
ORPHA:576 |
African Trypanosomiasis |
|
Renal insufficiency, Urinary incontinence, Diarrhea, Weight loss, Vomiting, Nausea |
ORPHA:3385 |
Chikungunya |
|
Diarrhea, Vomiting |
ORPHA:324625 |
Leptospirosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Cellular urinary casts, Diarrhea, Acute kidney injury |
ORPHA:509 |
Nocardiosis |
|
Peritonitis, Vomiting, Anorexia, Weight loss |
ORPHA:31204 |
Tsh-Secreting Pituitary Adenoma |
|
Nausea and vomiting, Vomiting, Weight loss |
ORPHA:91347 |
Dermatomyositis |
|
Gastrointestinal stroma tumor, Feeding difficulties in infancy, Weight loss |
ORPHA:221 |
Familial Thrombocytosis |
|
Weight loss |
ORPHA:71493 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Anorexia, Abdominal pain, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglobulin... |
ORPHA:91500 |
Nmda Receptor Encephalitis |
|
Diarrhea, Vomiting, Testicular teratoma |
ORPHA:217253 |
Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Abnormality of the gastrointestinal tract, Anorexia, Weight loss |
ORPHA:50918 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Renal insufficiency, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:797 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Cleft pala... |
OMIM:312870 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Macroglossia, Chronic diarrhea, Dermatan sulfate excretion in... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Macroglossia, Chronic diarrhea, Dermatan sulfate excretion in... |
ORPHA:217093 |
Aspartylglucosaminuria |
|
Macroorchidism, Macroglossia, Diarrhea, Aspartylglucosaminuria |
OMIM:208400 |
Pulmonary Alveolar Microlithiasis |
|
Hematuria, Calcium nephrolithiasis, Testicular microlithiasis, Weight loss |
ORPHA:60025 |
Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
Mucopolysaccharidosis Type 2 |
|
Macroglossia, Chronic diarrhea |
ORPHA:580 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss |
ORPHA:85408 |
Choreoacanthocytosis |
|
Weight loss, Dysphagia, Protruding tongue |
ORPHA:2388 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, High palate, Ankyloglossia, Weight loss |
ORPHA:740 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... |
OMIM:233450 |