Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Elevated circulating C-reactive protein concentration, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Inflammation of the large in... |
OMIM:615767 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting |
OMIM:142623 |
Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Colitis, Pyoderma, Crohn's disease |
OMIM:613148 |
Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Hypoalbuminemia, Obesity |
ORPHA:88643 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ulcerative colit... |
OMIM:617638 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Villous atrophy, Abdominal colic, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia... |
OMIM:615863 |
Diarrhea 9 |
|
Diarrhea, Failure to thrive, Villous atrophy |
OMIM:618168 |
Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... |
OMIM:618969 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... |
OMIM:606528 |
Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, B-cell lymphoma, Recurrent pneumonia |
OMIM:619164 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis |
OMIM:617006 |
Pseudomyxoma Peritonei |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... |
ORPHA:26790 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal reflux, Otitis m... |
OMIM:608971 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... |
OMIM:613217 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
Immunodeficiency 37 |
|
Colitis, Infectious encephalitis, Decreased circulating antibody level |
OMIM:616098 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... |
OMIM:618108 |
Immunodeficiency 14B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of the large... |
OMIM:619281 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Acne, Recurrent skin infections, Erythema nodosum, Increased circulating ferritin concentration, ... |
OMIM:300635 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
Epidermolysis Bullosa Acquisita |
|
Inflammation of the large intestine, Abdominal pain |
ORPHA:46487 |
Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... |
OMIM:612567 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Immunodeficiency 60 And Autoimmunity |
|
Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, Colitis, D... |
OMIM:618394 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Skin rash, Elevated circulating C-reactive protein concentration, Feeding diffic... |
OMIM:616050 |
Linear Iga Dermatosis |
|
Renal neoplasm, Inflammation of the large intestine, Bladder neoplasm |
ORPHA:46488 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Rabies |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:770 |
Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic ... |
OMIM:614602 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Anoperi... |
OMIM:613960 |
Immunodeficiency 48 |
|
Pneumonia, Diarrhea, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia |
OMIM:269840 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Hypo... |
OMIM:246700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abdominal distention, Diarrhea, Weight loss, Hematoch... |
ORPHA:103910 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level |
OMIM:614102 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elevated circulating C-reactive protein concentration, Sterile arthritis, Arthritis, Coliti... |
OMIM:604416 |
Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Allergic rhinitis, Elevated circulating C-reactive pro... |
ORPHA:2070 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... |
OMIM:209920 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis... |
OMIM:619445 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
Diarrhea 13 |
|
Hypoalbuminemia, Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... |
OMIM:121300 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Chroni... |
ORPHA:98813 |
Enterokinase Deficiency |
|
Diarrhea, Failure to thrive, Hypoproteinemia |
OMIM:226200 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... |
ORPHA:263665 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphoma, Lymphocytic i... |
ORPHA:436159 |
Reticular Dysgenesis |
|
Skin rash, Malabsorption, Diarrhea, Decreased circulating antibody level, Weight loss, Chronic ot... |
ORPHA:33355 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv... |
OMIM:601457 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... |
OMIM:301074 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a... |
OMIM:243150 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... |
ORPHA:411696 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Colitis, Recurrent sinusitis, Decreased circulating... |
OMIM:613101 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Skin rash, Anterior uveitis, Colitis, Ileal ulcer |
OMIM:616744 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Obesity, Feeding difficulties |
OMIM:620270 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Agammaglobulinemia, Absent isohemagglutinin level, Recurrent otitis media, Failure to t... |
OMIM:613501 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... |
OMIM:614700 |
Immunodeficiency 58 |
|
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... |
OMIM:618131 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Gastrointestinal dysmotility, Protracted diarrh... |
ORPHA:67 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Enterocolitis, Ulcerative colitis, Decreased circulating total IgM, Interstitial pneumonitis, Dec... |
OMIM:614878 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Conjunctivitis, Recurrent sinu... |
OMIM:240500 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... |
OMIM:616809 |
Immunodeficiency 40 |
|
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Interstitial pneumonitis, Chronic oral can... |
OMIM:616433 |
Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption |
OMIM:229050 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... |
OMIM:301220 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... |
ORPHA:33110 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co... |
OMIM:616100 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Diarrhea, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Conjunctiviti... |
OMIM:612692 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
Pyoderma Gangrenosum |
|
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Increased circulating ant... |
ORPHA:48104 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade... |
ORPHA:911 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption |
OMIM:277175 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis |
ORPHA:231 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... |
OMIM:614328 |
Immunodeficiency 15B |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Chronic oral candidia... |
OMIM:615592 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Esophageal stenosis, Decreased circulating antibody level |
OMIM:615190 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Diarrhea, Failure to thrive, Skin rash |
OMIM:618963 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Agammaglobulinemi... |
OMIM:300400 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
Complement Component 4B Deficiency |
|
Chronic active hepatitis, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent o... |
OMIM:614379 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Malabsorption, Diarrhea, ... |
ORPHA:229717 |
Esophagitis, Eosinophilic, 1 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Failure to thrive, Vomiting, Esophagitis, Dysphagia |
OMIM:613412 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent skin infections, Eczema, Abdominal pain, Increased circulating ferritin concentration, ... |
OMIM:619802 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Malabsorption |
ORPHA:83620 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... |
OMIM:619971 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia, Dec... |
ORPHA:79319 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiting, Hypoalbuminemia, P... |
ORPHA:37042 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythroderma, Protracted diarrhea,... |
ORPHA:169160 |
Cog7-Cdg |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Feeding ... |
ORPHA:79333 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomat... |
OMIM:175500 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin level, Chronic... |
OMIM:614699 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... |
ORPHA:324964 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive, Gingival fibromatosis |
OMIM:228600 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
Shigellosis |
|
Failure to thrive in infancy, Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocar... |
ORPHA:810 |
Thymoma |
|
Myositis, Glomerulonephritis, Neoplasm of head and neck, Ulcerative colitis, Decreased circulatin... |
ORPHA:99867 |
Immunodeficiency 46 |
|
Chronic diarrhea, Decreased circulating antibody level, Conjunctivitis, Chronic oral candidiasis,... |
OMIM:616740 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Elevated circulating C-reactive protein concentration, Anorexia, Colitis, Vomiti... |
OMIM:619381 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Fail... |
OMIM:616069 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Immunodeficiency 85 And Autoimmunity |
|
Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthritis, Decrease... |
OMIM:619510 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm ... |
ORPHA:2221 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive, Seborrheic dermatitis |
ORPHA:314 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Increased ... |
ORPHA:540 |
Immunodeficiency 19 |
|
Recurrent otitis media, Failure to thrive, Chronic diarrhea |
OMIM:615617 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Diarrhea, Increased circulating IgE level, Recur... |
ORPHA:277 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
Immunodeficiency 27A |
|
Increased inflammatory response, Pneumonia, Anorexia, Diarrhea, Weight loss, Increased circulatin... |
OMIM:209950 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Malabsorption, Obesity, Villous atrophy |
OMIM:600955 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... |
ORPHA:99818 |
Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Pancreatitis... |
OMIM:155310 |
Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating total IgM, Conjun... |
OMIM:607594 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation, Weight loss |
ORPHA:85447 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
Immunodeficiency 56 |
|
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... |
OMIM:615207 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Hypoalbuminemia, Protein-losing enteropat... |
OMIM:602579 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Skin rash, Lymphoproliferative disorder, Neoplasm by a... |
ORPHA:33276 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Abdominal pain, Fulminant hepat... |
ORPHA:2137 |
Neuroendocrine Tumor Of The Rectum |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,... |
ORPHA:100082 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ... |
OMIM:619858 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, I... |
OMIM:242860 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulating antibody l... |
OMIM:226300 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, B Acute Lymphoblastic Leukemia, Chronic diarrhea, Recurrent pneumonia, Agammag... |
OMIM:619824 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Pancreatitis, Abdominal pain |
OMIM:620137 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... |
ORPHA:793 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Chroni... |
ORPHA:47 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Diarrhea, Weight loss, Neoplasm of the lung, Pheochromocytoma, D... |
ORPHA:1332 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia,... |
OMIM:618999 |
Refractory Celiac Disease |
|
Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia... |
ORPHA:398063 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... |
OMIM:617321 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... |
OMIM:614069 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Lymphocytic interstitial pneumonia, Diarrhea, Increased circulating IgG level, Recurrent otitis m... |
OMIM:618495 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Bloody dia... |
OMIM:617718 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eczema, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasis, Macroglossi... |
OMIM:618523 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Myelodysplasia, Abdominal pain, Dia... |
ORPHA:486 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Diarrhea, Patent duct... |
ORPHA:79076 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomit... |
ORPHA:927 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Patent ductus arteriosus, Diarrhea, Protein-losing enteropathy, Vomiting, H... |
OMIM:608104 |
Neuroendocrine Tumor Of The Colon |
|
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Melena, Blood... |
ORPHA:100080 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Chronic diarrhea, Increased circulating antibody level |
OMIM:615285 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Keratoconjunctivitis sicca, Colitis,... |
ORPHA:309031 |
Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... |
OMIM:131100 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Hepatic necrosis, Protracted diarrhea, Episodic abdomi... |
ORPHA:100093 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Diarrhea, Encopresis, Patent ductus arteriosus, Obesity, Gastroesophageal reflux,... |
ORPHA:589821 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Cheilitis, Decreased circulating antibody level, Gastroe... |
ORPHA:90045 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated circulating creatine kinase concentration, Patent ductus arteriosus, Chronic diarrhea, D... |
OMIM:614576 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... |
ORPHA:319218 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Chronic diarrhea, Decreased circulating total IgM, Recurrent sinusitis, ... |
OMIM:617765 |
Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Small for gestational age, Elevated circulatin... |
ORPHA:90051 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hepatocellular nec... |
OMIM:201475 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Abdominal pain, Perianal abscess, Peritonitis, Enterocoliti... |
ORPHA:2686 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Intestinal perforation, Pancreatitis, Diarrhea, Peritonitis, Rectal prolapse, Col... |
ORPHA:90038 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Feeding difficulties, Vomiting, Increased circulating renin level, Failure to thrive |
OMIM:177735 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Failure to thrive, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... |
ORPHA:913 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... |
ORPHA:39812 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption... |
OMIM:607765 |
Glutaric Aciduria Iii |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... |
ORPHA:73263 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
Satoyoshi Syndrome |
|
Diarrhea, Mildly elevated creatine kinase, Malabsorption |
OMIM:600705 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, M... |
ORPHA:100924 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Sinusitis, Skin rash, Diarrhea, Acute otitis m... |
ORPHA:572 |
Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Hypoalbuminemia, Protein-losing ente... |
ORPHA:79327 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Increased circula... |
ORPHA:555905 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Increased circulating IgE level, Pa... |
OMIM:618213 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Maculopapular exanthema, Anorexia, Malabsorption, Abdominal pain, He... |
ORPHA:98850 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Bronchiectasis |
OMIM:619446 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated circulating creatine kinase concentration, Eczema, Abdominal pain, Lymphadenitis, Chroni... |
OMIM:615895 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... |
ORPHA:343 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration, I... |
OMIM:617099 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Skin rash |
ORPHA:29822 |
Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Vomiting, Hypoalbuminemia, Constrictive pericarditis, Abdominal colic, Intes... |
ORPHA:90363 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Inflammation of the large intestine, Esophageal stricture, Pancolitis |
OMIM:620133 |
American Trypanosomiasis |
|
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Myocarditi... |
ORPHA:3386 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
Typhoid |
|
Gastrointestinal hemorrhage, Skin rash, Abdominal pain, Diarrhea, Constipation, Infectious enceph... |
ORPHA:99745 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, P... |
ORPHA:100075 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Uveitis, Increased circulating IgG level, Colitis, Thyroid carcinoma, D... |
ORPHA:3261 |
Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abdominal pain, Intestinal perforat... |
ORPHA:544482 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Elevated circulating creatine kinase concentration, Poor appetite, Diarrhea, Dysphagia, Nausea |
ORPHA:352447 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... |
OMIM:601495 |
Ppoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... |
ORPHA:97278 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Failure to thrive, Skin rash, Pneumonia, Lymphoproliferative... |
ORPHA:276 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurrent pneumonia, U... |
OMIM:618935 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Chronic diarrhea, Sclerosing cholangitis, Esophagitis, Par... |
OMIM:619652 |
Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Disseminated cutaneous warts, C... |
ORPHA:90362 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Vomiting |
OMIM:264350 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... |
OMIM:142680 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... |
OMIM:106300 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:71 |
Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy |
ORPHA:858 |
Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
Hermansky-Pudlak Syndrome 1 |
|
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain |
OMIM:203300 |
Celiac Disease, Susceptibility To, 1 |
|
Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lymphoma, Thyroiditis, We... |
OMIM:212750 |
Immunodeficiency 22 |
|
Pericarditis, Failure to thrive, Diarrhea, Protracted diarrhea, Decreased circulating total IgM, ... |
OMIM:615758 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Po... |
ORPHA:542323 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea, Hypoalbuminemia, Pancreatitis, Failure to thrive in infancy |
OMIM:618805 |
Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Recurrent pneumonia, Protracted... |
OMIM:610163 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Anorex... |
ORPHA:100079 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Hepatocellular carcinoma, Nausea |
OMIM:176000 |
Immunodeficiency 17 |
|
Eczema, Chronic diarrhea, Chronic decreased cirulating IgG2, Abnormal intestine morphology, Anope... |
OMIM:615607 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... |
OMIM:613489 |
Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal distention, Diarrhea, E... |
ORPHA:100085 |
Familial Mediterranean Fever |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Abdominal pain, Orchitis, Di... |
OMIM:249100 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Decreased circulating apolipoprotein A-I concentration, Intestinal o... |
ORPHA:85450 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, High palate, Gastroesophageal reflux, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Weight loss, Arthriti... |
ORPHA:29207 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eczema, Glomerulonephritis, Increased circulating IgE level, Chronic diarrhea, H... |
OMIM:304790 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea, Hypoprotei... |
ORPHA:99828 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Colitis, Recurrent pancreatitis, Pancreatitis |
OMIM:615947 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Failure to ... |
OMIM:617788 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Weight... |
ORPHA:677 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea, Failure to thrive, Fat malabsorption |
OMIM:211600 |
Adiposis Dolorosa |
|
Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation |
ORPHA:36397 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Abdominal pain, Diarrhea, Increased circulating IgG level, In... |
ORPHA:83313 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent pneumonia, Bronchiectasis, Recurrent aphthous stomatitis, Chronic oral candid... |
OMIM:150550 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Abdominal pain, Diarrhea, Vomiting, Nausea |
ORPHA:79455 |
Somatostatinoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... |
ORPHA:97283 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Dysgammaglobulinemia, Increased circulating IgA level, Diarrhea, Hepatitis, Ch... |
OMIM:308230 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Ecz... |
ORPHA:391487 |
Syndromic Diarrhea |
|
Villous atrophy, Gastritis, Hepatoblastoma, Small for gestational age, Patent ductus arteriosus, ... |
ORPHA:84064 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Cachexia, Diarrhea, Vomiting, Decreased liver... |
ORPHA:42 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... |
ORPHA:79456 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Patent ductus arteriosus, Diarrhea, Weight loss, Failure to thrive |
ORPHA:1842 |
Selective Igm Deficiency |
|
Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infec... |
ORPHA:331235 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor |
ORPHA:100084 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... |
OMIM:175200 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Multiple myeloma, Pancreatitis |
ORPHA:188 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Failure to thrive, Vomiting, Elevated circulating creatine kinase concentration |
OMIM:212140 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... |
ORPHA:276152 |
Immunodeficiency 7 |
|
Recurrent otitis media, Diarrhea, Failure to thrive, Chronic oral candidiasis |
OMIM:615387 |
Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive |
ORPHA:51188 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
Galactosemia I |
|
Diarrhea, Failure to thrive, Vomiting, Decreased liver function |
OMIM:230400 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... |
ORPHA:727 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Weight loss, Elevated circulating C-reactive protein concentration, Abdominal pain |
ORPHA:54251 |
B4Galt1-Cdg |
|
Inflammatory abnormality of the skin, Diarrhea, Small for gestational age, Elevated circulating c... |
ORPHA:79332 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate |
OMIM:300215 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Steatorrhea, Hepatic failure |
OMIM:613812 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Neuroblastoma, Susceptibility To, 1 |
|
Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Neuroblastoma, Failure to thrive, Ga... |
OMIM:256700 |
Glucagonoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the pancrea... |
ORPHA:97280 |
Cog4-Cdg |
|
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... |
ORPHA:263501 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Generalized seborrheic dermatitis |
OMIM:609536 |
Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia |
ORPHA:79101 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Cholangitis, Eczema, Malabsorption, Feeding difficulties in... |
ORPHA:3260 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei... |
ORPHA:32960 |
Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
Specific Granule Deficiency 2 |
|
Myelodysplasia, Recurrent pneumonia, Recurrent otitis media, Intractable diarrhea, Failure to thrive |
OMIM:617475 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... |
ORPHA:3452 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Increased circulating IgM level, Conjunctivitis, D... |
ORPHA:99824 |
Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro... |
ORPHA:139411 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... |
ORPHA:2908 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Peptic ulcer, Myelodysplasia, Abdominal pain, Hematological neoplasm, Dia... |
ORPHA:98849 |
Wiskott-Aldrich Syndrome |
|
Lymphoproliferative disorder, Eczema, Increased circulating IgA level, Hematemesis, Diarrhea, Chr... |
OMIM:301000 |
Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... |
ORPHA:79325 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... |
ORPHA:31205 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Bronchiectasis, Weight loss |
ORPHA:411703 |
Hyper-Igd Syndrome |
|
Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Diarrhea, Chronic diar... |
OMIM:260920 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Good Syndrome |
|
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Thymoma, Decreased circulating an... |
ORPHA:169105 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea, Elevated circulating creatine kinase concentration |
OMIM:615084 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... |
OMIM:102700 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Pneumonia, Ab... |
ORPHA:36234 |
Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Mala... |
ORPHA:342 |
Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
Congenital Factor Xiii Deficiency |
|
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia |
ORPHA:331 |
Encephalopathy, Ethylmalonic |
|
Failure to thrive, Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Pustule, Chronic diarrhea, Cheilitis, Furrowed tongue, We... |
ORPHA:37 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Skin rash |
OMIM:601979 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Episcleritis, Skin rash, Abdominal pain, Diarrhea, Lymphoma, Uveitis, Arthri... |
ORPHA:36412 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Failure to thrive, Diarrhea, Esophageal varix, Vomiting, Protuberant abdom... |
OMIM:278000 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... |
OMIM:270420 |
Congenital Myopathy 20 |
|
Failure to thrive, Chronic diarrhea, High palate |
OMIM:620310 |
Necrotizing Enterocolitis |
|
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis |
OMIM:608654 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Diarrhea, Epididymitis, Prostatitis, Pyoderma, Conju... |
OMIM:307200 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Elevated circulating creatine kinase concentration, Feeding difficulties |
OMIM:255120 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
Cocaine Intoxication |
|
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... |
ORPHA:90068 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea |
ORPHA:449285 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Malabsorption |
OMIM:602347 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Diarrhea, Decreased circulating total IgM, Vomiting, Decreased circulating IgG... |
OMIM:275350 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea, Hypoalbuminemia, Acne, Seborrheic dermatitis |
OMIM:614441 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Urinary bladder inflam... |
ORPHA:556 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Pituitary adenoma, Hepat... |
ORPHA:199299 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... |
ORPHA:652 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Pneumonia, Malabsorption, Diarrhea, Atypical or prolonged hepatitis... |
ORPHA:83471 |
Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Volvulus, Microcolon |
OMIM:609313 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... |
OMIM:226730 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Chronic oral candidiasis, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy,... |
OMIM:606367 |
Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
Classic Galactosemia |
|
Diarrhea, Hepatic failure, Vomiting, Feeding difficulties |
ORPHA:79239 |
Immunodeficiency 31C |
|
Villous atrophy, Osteomyelitis, Eczema, Diarrhea, Bronchiectasis, Chronic mucocutaneous candidias... |
OMIM:614162 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevate... |
OMIM:619644 |
Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... |
ORPHA:100050 |
Dpm1-Cdg |
|
Elevated circulating creatine kinase concentration, High, narrow palate, Diarrhea, Failure to thr... |
ORPHA:79322 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Hepatic necrosis, Vomiting, Fai... |
ORPHA:71212 |
Plague |
|
Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Lymphadenitis, Diarrhea, Erythema ... |
ORPHA:707 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:56425 |
Wild Type Attr Amyloidosis |
|
Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, Intermittent dia... |
ORPHA:330001 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Chronic diarrhea |
OMIM:619484 |
Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... |
ORPHA:93552 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties, Increased circulating renin level, Failure t... |
ORPHA:427 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Diarrhea, Chronic mucocutaneous candidiasis, Abnormal circulating i... |
ORPHA:79124 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent otitis media, Failure to thrive, P... |
OMIM:600802 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Hepatocellular adenoma, Ulcerative colitis, Enterocolitis, Gout, Thyroiditis, Inflammat... |
ORPHA:79259 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Chronic diarrhea, Bronchiectasis, Chronic lymphatic leukemia, Increased circulat... |
OMIM:616005 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Diarrhea, Vomiting, Atopic dermatitis |
ORPHA:3240 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Skin rash, Failure to thrive in infancy, Partial IgA deficiency, Pustule, Chronic diarrhea, Acute... |
ORPHA:35078 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Chronic diarrhea, Chronic m... |
OMIM:116920 |
Mevalonic Aciduria |
|
Failure to thrive, Skin rash, Elevated circulating creatine kinase concentration, Elevated circul... |
OMIM:610377 |
Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, En... |
ORPHA:549 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... |
ORPHA:171 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
Immunodeficiency 9 |
|
Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis |
OMIM:612782 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Elevat... |
OMIM:619573 |
Familial Glucocorticoid Deficiency |
|
Anorexia, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weight loss, Constipa... |
ORPHA:361 |
Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... |
ORPHA:100078 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Diarrhea, Esophageal varix, Hepatocellular ad... |
ORPHA:264580 |
Vipoma |
|
Nausea and vomiting, Neoplasm of the pancreas, Follicular thyroid carcinoma, Anorexia, Malabsorpt... |
ORPHA:97282 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Absent uvul... |
OMIM:619708 |
Relapsing Fever |
|
Diarrhea, Vomiting, Elevated circulating C-reactive protein concentration, Abdominal pain |
ORPHA:91547 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Malabsorption, Iridocyclitis, Diarrhea, Chronic muc... |
OMIM:240300 |
Citrullinemia Type Ii |
|
Decreased body mass index, Diarrhea, Vomiting, Hypoalbuminemia, Hepatocellular carcinoma, Hypopro... |
ORPHA:247585 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Eczema, Hematemesis, Keratitis, Chronic diarrhea, Lymphoma, Chronic leukemia, Acute le... |
ORPHA:906 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Diarrhea, Malnutrition, Decreased body weight... |
ORPHA:96180 |
Omenn Syndrome |
|
Pneumonia, Diarrhea, Erythroderma, Failure to thrive, Hypoproteinemia |
OMIM:603554 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting, Increased body weight, Large for gestational age |
ORPHA:263455 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Vomiting, Nephritis, Infectious enceph... |
ORPHA:2552 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Squamous cell... |
OMIM:601675 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Increased circulating ... |
OMIM:214700 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Chronic diarrhea, Increased circulating IgE level, Increased cir... |
ORPHA:169154 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Failure to thrive, Feeding difficulties in infancy, Diarrhea, Vomi... |
OMIM:212065 |
Omenn Syndrome |
|
Pneumonia, Lymphoma, Chronic diarrhea, Thyroiditis, Erythroderma, Failure to thrive |
ORPHA:39041 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Pyoderma, Eczematoid de... |
OMIM:242700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Diarrhea, Hepatocellular adenoma, Increased b... |
ORPHA:79240 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Diarrhea, Lymphoma, Leukemia, Monoclonal im... |
ORPHA:33226 |
Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
Cystic Fibrosis |
|
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Bronchiectasis, Recurrent pneumonia, Steatorrhe... |
OMIM:219700 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Chronic diarrhea, Epididymitis, Bronchiectasis, Recurrent pne... |
OMIM:300755 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Sinusitis, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Diarrhea, Recurrent pne... |
OMIM:251260 |
Riddle Syndrome |
|
Pneumonia, Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Diarrhea, Recurr... |
ORPHA:420741 |
Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Diarrhea, Failure to thrive, Vomiting |
OMIM:610768 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea |
ORPHA:90035 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Failure to thrive, Cachexia, Abdominal pain,... |
ORPHA:275761 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Failure to thrive, Cutaneous leiomyoma, High palate, Hepatic failure |
OMIM:606812 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis, Increased circulating ferritin... |
OMIM:615846 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea |
OMIM:619849 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Pulmonary carcinoid tumor... |
ORPHA:97287 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, High palate, Constipation, Otitis media, Intermittent diarrhea, F... |
OMIM:618050 |
Biotinidase Deficiency |
|
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... |
OMIM:253260 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Aganglionic megacol... |
ORPHA:653 |
Lujo Hemorrhagic Fever |
|
Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration, Myocar... |
ORPHA:319213 |
Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... |
ORPHA:2176 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Failure to thrive, Skin rash, Lymphadenitis, Decreased circulating antibody level, Protracted dia... |
ORPHA:331206 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Diarrhea... |
ORPHA:36426 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Gastrostomy tube feeding in infancy, Feeding difficulties in infanc... |
OMIM:613385 |
Mirage Syndrome |
|
Myelodysplasia, Patent ductus arteriosus, Chronic diarrhea, Esophageal stricture, Gastroesophagea... |
OMIM:617053 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Shwachman-Diamond Syndrome 2 |
|
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency |
OMIM:617941 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Dysphagia |
OMIM:252930 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Episcleritis, Keratitis, Diarrhea, Failure to thrive |
ORPHA:525731 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation, Vomiting |
OMIM:223900 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Lysinuric Protein Intolerance |
|
Protein avoidance, Increased circulating ferritin concentration, Diarrhea, Malnutrition, Pancreat... |
OMIM:222700 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Chronic oral candidiasis, Psoriasiform dermatitis, Diarrhea, Decreased circulating antibody level... |
ORPHA:221139 |
Glycogen Storage Disease Ib |
|
Gout, Inflammation of the large intestine, Protuberant abdomen, Hepatocellular carcinoma, Pancrea... |
OMIM:232220 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Diarrhea |
OMIM:619313 |
Mucopolysaccharidosis, Type Iiib |
|
Diarrhea |
OMIM:252920 |
Addison Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Thymoma, Weight loss, Co... |
ORPHA:85138 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Interstitial pneumonitis, Vomiting |
ORPHA:454831 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Intestinal malrotation, Abdominal distention, Gastrointestinal atresia, ... |
ORPHA:436252 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th... |
ORPHA:70591 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Poor appetite |
OMIM:201100 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea |
OMIM:252900 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Pneumonia, Chronic diarrhea, Increased circulating IgE level, Otitis media, Failure to thrive, Pa... |
OMIM:602450 |
Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Myelodysplasia, Diarrhea, Lymphoma, Functional abnormality of the gast... |
ORPHA:221016 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... |
ORPHA:294023 |
Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... |
ORPHA:2131 |
Mucopolysaccharidosis, Type Ii |
|
Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Macroglossia, Recurrent otitis media |
OMIM:309900 |
Glycogen Storage Disease Ic |
|
Hepatoblastoma, Chronic pancreatitis, Gout, Inflammation of the large intestine, Hepatocellular c... |
OMIM:232240 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Myelodysplasia, Diarrhea, Functional abnormality of the gastrointestin... |
ORPHA:221008 |
Rothmund-Thomson Syndrome |
|
Skin rash, Small for gestational age, Myelodysplasia, Nasogastric tube feeding in infancy, Diarrh... |
ORPHA:2909 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipation, Gastroesopha... |
ORPHA:500055 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Vomiting, Abdominal cramps, Aspiration pneumonia |
ORPHA:173 |
Ataxia-Telangiectasia |
|
Failure to thrive, Sinusitis, Elevated circulating alpha-fetoprotein concentration, Decreased cir... |
OMIM:208900 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Diarrhea, V... |
ORPHA:324636 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Dysphagia |
OMIM:616457 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Feeding difficulties in infancy, Diarrhea, Na... |
OMIM:608836 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Secretory diarrhea, Decreased circulating antibody level, Hematochezia, Feeding difficulties, Pro... |
OMIM:618183 |
Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia, Weight loss |
ORPHA:134 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Chronic decreased circulating IgG1 |
OMIM:300953 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipation, Increased cir... |
ORPHA:95409 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Failure to thrive, Small for gestational age, Anorexia, Malabsorption, Chronic d... |
OMIM:557000 |
Nijmegen Breakage Syndrome |
|
Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexia, Anorectal anomaly, Chronic di... |
ORPHA:647 |
Immunodeficiency 55 |
|
Diarrhea, Recurrent skin infections, Eczema, Myelodysplasia |
OMIM:617827 |
Frontometaphyseal Dysplasia 2 |
|
Feeding difficulties in infancy, Pyloric stenosis, Patent ductus arteriosus, Ulcerative colitis, ... |
OMIM:617137 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Skin rash, Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
Sarcoidosis, Susceptibility To, 1 |
|
Anorexia, Iridocyclitis, Bronchiectasis, Uveitis, Weight loss, Arthritis, Inflammation of the lar... |
OMIM:181000 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Esophageal stricture, Chronic diarrhea, Oral leukoplakia |
OMIM:613989 |
Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vomiting, Recurr... |
OMIM:620233 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Osteomyelitis le... |
OMIM:256810 |
Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Pustule, Myocarditis, Diarrhea, Peritonit... |
ORPHA:533 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
Melas |
|
Intestinal pseudo-obstruction, Diarrhea, Gastrointestinal dysmotility, Vomiting, Constipation, Re... |
ORPHA:550 |
Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Weight loss, Episodic vomiting |
ORPHA:20 |
Marburg Hemorrhagic Fever |
|
Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Elevated circul... |
ORPHA:99826 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Diarrhea, Feeding difficulties, Chronic hepatitis, Hepatocellular c... |
ORPHA:231226 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated circulating creatine kinase concentration, Chronic diarrhea, Hepatitis, Cleft palate, Ch... |
OMIM:614921 |
Dubowitz Syndrome |
|
Eczema, Feeding difficulties in infancy, Velopharyngeal insufficiency, Chronic diarrhea, Submucou... |
OMIM:223370 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea, Acne, Seborrheic dermatitis |
OMIM:167100 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Glomerulonephritis, Abdominal pain,... |
ORPHA:340 |
Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, C... |
ORPHA:2331 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Anorexia, Abdominal pain, Urinary bladder inflammation, Diarrhea, Esophageal stricture... |
ORPHA:99921 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Glomerulonephritis, Increased circulating ferritin concentration, Diarrhea, In... |
ORPHA:470 |
Japanese Encephalitis |
|
Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Increased circulat... |
ORPHA:79139 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Failure to thrive, Chronic diarrhea, Recurrent... |
OMIM:612132 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed ton... |
OMIM:158310 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hematemesis, Intestinal perforation, Bloody diarrhea, Hematochezia, ... |
ORPHA:464321 |
Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal ... |
OMIM:618268 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Gastrointestinal hemorrhage, Failure to thrive in infancy, Elevated circulating alpha-fetoprotein... |
ORPHA:247598 |
Mucopolysaccharidosis, Type Iiid |
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Diarrhea, Dysphagia, Macroglossia, Tube feeding, Recurrent otitis media |
OMIM:252940 |
Dopamine Beta-Hydroxylase Deficiency |
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Diarrhea, Rhinitis, Vomiting |
ORPHA:230 |
Leukocyte Adhesion Deficiency Type Ii |
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Severe periodontitis, Small for gestational age, Protruding tongue, Keratitis, Chronic diarrhea, ... |
ORPHA:99843 |
Cockayne Syndrome Type 1 |
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Diarrhea, Failure to thrive, Conjunctivitis, Uveitis |
ORPHA:90321 |
Colchicine Poisoning |
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Myocarditis, Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
Trichohepatoenteric Syndrome 1 |
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Villous atrophy, Failure to thrive, Small for gestational age, Decreased circulating antibody lev... |
OMIM:222470 |
Beta-Thalassemia Major |
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Diarrhea, Feeding difficulties, Failure to thrive in infancy, Hepatocellular carcinoma |
ORPHA:231214 |
Immunodeficiency 47 |
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Chronic diarrhea, Decreased circulating antibody level, Decreased circulating total IgA, Decrease... |
OMIM:300972 |
Dubowitz Syndrome |
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Anal stenosis, Eczema, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Chronic diarr... |
ORPHA:235 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar... |
ORPHA:95455 |
Sandhoff Disease |
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Macroglossia, Chronic diarrhea, Episodic abdominal pain |
OMIM:268800 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased circulating IgG level, Diarrhea, Feeding difficulties, Hepatocellular necrosis, Failure... |
OMIM:618278 |
Diamond-Blackfan Anemia 21 |
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Chronic diarrhea, Obesity, Osteosarcoma |
OMIM:620072 |
Distal Renal Tubular Acidosis |
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Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
Cerebrotendinous Xanthomatosis |
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Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Anorexia, Pituitary corticotrop... |
ORPHA:99889 |
Crimean-Congo Hemorrhagic Fever |
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Nausea and vomiting, Acute pancreatitis, Elevated circulating creatine kinase concentration, Anor... |
ORPHA:99827 |
Abetalipoproteinemia |
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Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Abnormal circulating apolipoprotein conce... |
ORPHA:14 |
Liver Disease, Severe Congenital |
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Chronic gastritis, Failure to thrive, Eczema, Elevated circulating alpha-fetoprotein concentratio... |
OMIM:619991 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Ileal atresia, Abdominal distention, Patent ductus arteriosus, Peritonitis, Pyelonephritis, Micro... |
OMIM:619351 |
Farber Disease |
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Failure to thrive, Chronic diarrhea, Feeding difficulties, Arthritis, Hepatic failure |
ORPHA:333 |
Yellow Fever |
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Increased circulating interleukin 6 concentration, Acute pancreatitis, Skin rash, Elevated circul... |
ORPHA:99829 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Microcolon |
ORPHA:163746 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Microcolon, Intestinal malrotation, Hepatic failure |
OMIM:619431 |
Glycogen Storage Disease Ia |
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Gout, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea, Pancreatitis |
OMIM:232200 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
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Chapped lip, Recurrent skin infections, Abnormal tongue morphology, Chronic diarrhea, Recurrent p... |
ORPHA:158668 |
Deeah Syndrome |
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Malabsorption, Chronic diarrhea, Narrow palate, Chronic constipation, High palate, Dysphagia, Dec... |
OMIM:619004 |
Steinert Myotonic Dystrophy |
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Endometrial carcinoma, Brain neoplasm, Intestinal pseudo-obstruction, Choroidal melanoma, Oral-ph... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... |
ORPHA:99413 |
Turner Syndrome |
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Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... |
ORPHA:881 |
Mosaic Monosomy X |
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Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... |
ORPHA:99228 |
Monosomy X |
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Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Obesity, Gastroin... |
ORPHA:99226 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Diarrhea |
OMIM:235400 |
Chikungunya |
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Maculopapular exanthema, Skin rash, Erythema nodosum, Diarrhea, Crusting erythematous dermatitis,... |
ORPHA:324625 |
Bartter Syndrome, Type 1, Antenatal |
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Small for gestational age, Diarrhea, Constipation, Vomiting, Increased circulating renin level, F... |
OMIM:601678 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Chronic constipation, Chronic diarrhea, High palate, Decreased body weight |
OMIM:619005 |
Gitelman Syndrome |
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Nausea and vomiting, Neoplasm of the pancreas, Abdominal pain, Diarrhea, Gout, Tubulointerstitial... |
ORPHA:358 |
Alg9-Cdg |
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Villous atrophy, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula |
ORPHA:79328 |
Proximal Renal Tubular Acidosis |
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Diarrhea, Failure to thrive, Vomiting, Malabsorption |
ORPHA:47159 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
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Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
Leptospirosis |
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Nausea and vomiting, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, Hepatitis, Uvei... |
ORPHA:509 |
Occipital Horn Syndrome |
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Decreased circulating ceruloplasmin concentration, Pelvic bone exostoses, Hiatus hernia, Chronic ... |
OMIM:304150 |
Acute Liver Failure |
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Gastrointestinal hemorrhage, Skin rash, Diarrhea, Hepatitis, Hepatic necrosis, Hepatocellular nec... |
ORPHA:90062 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Abdominal distention, Microcolon |
OMIM:619362 |
Nmda Receptor Encephalitis |
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Ovarian teratoma, Neoplasm of the thymus, Diarrhea, Hodgkin lymphoma, Neoplasm of the lung, Vomit... |
ORPHA:217253 |
Bartter Syndrome, Type 2, Antenatal |
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Small for gestational age, Diarrhea, Constipation, Vomiting, Increased circulating renin level, F... |
OMIM:241200 |
Mucopolysaccharidosis Type 3 |
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Malabsorption, Macroglossia, Constipation, Otitis media, Dysphagia, Chronic otitis media, Intermi... |
ORPHA:581 |
Scorpion Envenomation |
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Acute pancreatitis, Increased circulating NT-proBNP concentration, Abdominal pain, Myocarditis, D... |
ORPHA:466677 |
Hurler Syndrome |
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Macroglossia, Rhinitis, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
Ogden Syndrome |
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Eczema, Patent ductus arteriosus, Diarrhea, Narrow palate, Feeding difficulties, Vomiting, High p... |
OMIM:300855 |
Helsmoortel-Van Der Aa Syndrome |
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High, narrow palate, Chronic diarrhea, Obesity, Feeding difficulties, Truncal obesity, Ankyloglos... |
OMIM:615873 |
Zttk Syndrome |
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Feeding difficulties in infancy, Patent ductus arteriosus, Submucous cleft hard palate, Chronic d... |
OMIM:617140 |
Mowat-Wilson Syndrome |
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Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... |
ORPHA:2152 |
Lipodystrophy, Familial Partial, Type 7 |
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Small for gestational age, Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomiting, Dysp... |
OMIM:606721 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Small for gestational age, Intestinal malrotation, Patent ductus arteriosus, Feeding difficulties... |
ORPHA:2255 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, Increased circulating IgG level, Gastroesophageal reflux,... |
OMIM:619472 |
Pearson Syndrome |
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Small for gestational age, Exocrine pancreatic insufficiency, Chronic diarrhea, Dysphagia, Steato... |
ORPHA:699 |
African Trypanosomiasis |
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Pericarditis, Keratitis, Myocarditis, Diarrhea, Weight loss, Vomiting, Optic neuritis, Conjunctiv... |
ORPHA:3385 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Gastroparesis, Failure to thrive in infancy, Feeding difficulties in infancy, Gastrointestinal dy... |
ORPHA:500150 |
Cerebrotendinous Xanthomatosis |
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Chronic diarrhea |
ORPHA:909 |
Mucopolysaccharidosis Type 2, Severe Form |
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Macroglossia, Chronic diarrhea, Arthritis |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
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Hip osteoarthritis, Macroglossia, Chronic diarrhea |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Macroglossia, Chronic diarrhea, Arthritis |
ORPHA:217093 |
Aspartylglucosaminuria |
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Macroglossia, Diarrhea, Acne |
OMIM:208400 |