Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
Secretory Component Deficiency |
|
Chronic intestinal candidiasis, Intermittent diarrhea |
OMIM:269650 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Diarrhea, Chronic diarrhea, Recurrent infections |
OMIM:614102 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... |
OMIM:613495 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal distention, Abdominal colic, Vomiting, Diarrhea |
ORPHA:35122 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections |
OMIM:242870 |
Complement Component 7 Deficiency |
|
Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:610102 |
Lactose Intolerance, Adult Type |
|
Flatulence, Diarrhea, Abdominal pain |
OMIM:223100 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections |
OMIM:233670 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Recurrent respiratory infections, Impaired Ig class switch recombination, Recurrent bacterial inf... |
OMIM:605258 |
Trehalase Deficiency |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:103909 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... |
ORPHA:70592 |
Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Recurrent bacterial infections, Increased circulating IgM... |
OMIM:608106 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Recurrent bacterial in... |
OMIM:606843 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
Complement Component 4B Deficiency |
|
Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Meningitis |
OMIM:614379 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Recurrent viral infections |
OMIM:310350 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infections |
OMIM:146830 |
Immunodeficiency 104 |
|
Recurrent opportunistic infections, Diarrhea, Chronic mucocutaneous candidiasis, Gastroesophageal... |
OMIM:608971 |
Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea |
OMIM:618662 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea |
OMIM:616868 |
Rabies |
|
Nausea and vomiting, Recurrent pharyngitis, Diarrhea, Anorexia |
ORPHA:770 |
Inflammatory Bowel Disease 11 |
|
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain |
OMIM:191390 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial in... |
OMIM:613500 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Vomiting |
OMIM:610370 |
Sucrase-Isomaltase Deficiency, Congenital |
|
Diarrhea, Abdominal pain |
OMIM:222900 |
Diarrhea 9 |
|
Diarrhea |
OMIM:618168 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... |
OMIM:300310 |
Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation |
ORPHA:160148 |
Immunodeficiency 19 |
|
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea, Severe viral infection |
OMIM:615617 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:613502 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Recurrent bacterial infections, Recurrent otitis media, Recurrent lower respiratory tra... |
OMIM:613501 |
Complement Component 5 Deficiency |
|
Intractable diarrhea, Recurrent Neisserial infections, Recurrent meningococcal disease |
OMIM:609536 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:616022 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Diarrhea, Recurrent candida infections |
OMIM:269840 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections |
OMIM:608957 |
Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... |
OMIM:266600 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea |
ORPHA:103907 |
Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, Decreased circulating to... |
OMIM:612692 |
Hirschsprung Disease |
|
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Sepsis, Functional abnorma... |
ORPHA:388 |
Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting |
OMIM:614265 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:606528 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... |
OMIM:619446 |
Solitary Rectal Ulcer Syndrome |
|
Abdominal pain, Tenesmus, Hematochezia, Chronic constipation, Episodic abdominal pain, Bloody dia... |
ORPHA:209964 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Sepsis, Chronic oral candidiasis, Meningitis |
OMIM:616740 |
Lactase Deficiency, Congenital |
|
Diarrhea |
OMIM:223000 |
Dracunculiasis |
|
Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea |
ORPHA:231 |
Primary Peritoneal Carcinoma |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation |
ORPHA:168829 |
Whim Syndrome 1 |
|
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent upper respiratory trac... |
OMIM:193670 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... |
ORPHA:2494 |
Erythroderma Desquamativum |
|
Diarrhea |
ORPHA:314 |
Immunodeficiency 33 |
|
Recurrent bacterial infections, Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Vomiting, Diarrhea |
OMIM:615863 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Malnutrition, Protracted diarrhea |
OMIM:251850 |
Coproporphyria, Hereditary |
|
Constipation, Vomiting, Diarrhea, Abdominal pain |
OMIM:121300 |
Enterokinase Deficiency |
|
Diarrhea |
OMIM:226200 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent bacterial infections, Recurrent upper respiratory tract infections, Recurrent infection... |
OMIM:608184 |
Immunodeficiency 67 |
|
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... |
OMIM:607676 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Crohn's disease, Mucoid di... |
OMIM:615767 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Abdominal pain |
OMIM:620137 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, Esophagitis |
OMIM:619079 |
Immunodeficiency 15B |
|
Chronic oral candidiasis, Chronic diarrhea, Recurrent infections |
OMIM:615592 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Constipation, Vomiting, Enterocolitis |
OMIM:142623 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent herpes, Anorexia, Diarrhea, Recurrent pneumonia, Recurrent candida infections, Recurren... |
ORPHA:169160 |
Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Recurrent aphthous stomatitis, Recurrent... |
OMIM:613960 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Recurrent opportunistic infections, Meningitis, Failure to thrive secondary to recurren... |
OMIM:601457 |
Immunodeficiency, Common Variable, 2 |
|
Diarrhea, Recurrent pneumonia, Recurrent bacterial infections, Recurrent sinusitis, Recurrent oti... |
OMIM:240500 |
Diarrhea 13 |
|
Secretory diarrhea, Vomiting |
OMIM:620357 |
Immunodeficiency 56 |
|
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Recurrent pneumonia, Chronic ... |
OMIM:615207 |
Immunodeficiency 76 |
|
Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchiolitis |
OMIM:619164 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Recurrent... |
OMIM:614699 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Chronic diarrhea, Ulcerative colitis, Severe cytomegalovirus infection, Colonic eosinophilia, Dis... |
OMIM:617638 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Feeding difficulties |
OMIM:620270 |
Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting |
ORPHA:30925 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Recurrent pneumonia, Recurrent bacterial infections, Decreased circulat... |
OMIM:607594 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, Decreased circulating antibody level |
OMIM:616873 |
Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Steatorrhea |
OMIM:613291 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Dia... |
OMIM:618495 |
Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
Diarrhea 12, With Microvillus Atrophy |
|
Dependency on parenteral nutrition, Abdominal distention, Secretory diarrhea, Vomiting |
OMIM:619445 |
Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Recurrent infections |
OMIM:229050 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Severe varicella zoster infection, Diarrhea, Persistent EBV vir... |
OMIM:615387 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... |
ORPHA:275 |
Bare Lymphocyte Syndrome, Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... |
OMIM:209920 |
Malonyl-Coa Decarboxylase Deficiency |
|
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting |
OMIM:248360 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent opportunistic infections, Recurrent upper respiratory tract infections, Recurrent pneum... |
ORPHA:277 |
Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... |
OMIM:615237 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent pneumonia, Recurrent infections, Recurrent aphthous stomatitis, Chronic oral ... |
OMIM:150550 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Secretory diarrhea, Recurrent bronchiolitis, Vomiting |
OMIM:616069 |
Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
Hyaline Fibromatosis Syndrome |
|
Diarrhea, Recurrent infections |
OMIM:228600 |
Myopathy, Myofibrillar, 1 |
|
Diarrhea, Constipation |
OMIM:601419 |
Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Vomiting, Steatorrhea |
OMIM:246700 |
Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
Enteric Anendocrinosis |
|
Diarrhea, Vomiting |
ORPHA:83620 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Recurrent mycobacterium avium complex infections |
OMIM:615978 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Recurrent respiratory infections, Diarrhea, Vomiting |
OMIM:264350 |
Immunodeficiency 69 |
|
BCGosis, Diarrhea |
OMIM:618963 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea |
OMIM:613217 |
Cog7-Cdg |
|
Diarrhea, Feeding difficulties, Recurrent infections |
ORPHA:79333 |
Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
Attrv30M Amyloidosis |
|
Diarrhea, Constipation |
ORPHA:85447 |
Glucose/Galactose Malabsorption |
|
Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea |
OMIM:606824 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Hematochezia, Abdominal distention, Diarrhea |
ORPHA:103910 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent upper respiratory tract infections, Recurre... |
OMIM:614069 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Diarrhea, Sepsis |
ORPHA:33355 |
Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea |
ORPHA:90035 |
Immunodeficiency 14B, Autosomal Recessive |
|
Candida esophagitis, Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, ... |
OMIM:619281 |
Complement Factor B Deficiency |
|
Recurrent bacterial infections, Recurrent meningococcal disease |
OMIM:615561 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Diarrhea, Gastritis, Inflammation of the large intestine |
OMIM:618108 |
Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure |
ORPHA:75234 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Chronic diarrhea, Recurrent infections |
OMIM:615285 |
Severe Combined Immunodeficiency, X-Linked |
|
Recurrent bacterial meningitis, Recurrent pneumonia, Chronic diarrhea, Recurrent fungal infection... |
OMIM:300400 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Recurrent herpes, Recurrent viral infections, Diarrhea, Recurre... |
ORPHA:572 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections |
ORPHA:86788 |
Vascular Hyalinosis |
|
Hematochezia, Diarrhea |
OMIM:277175 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:612075 |
Neuroendocrine Tumor Of The Rectum |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... |
ORPHA:100082 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Recurrent viral infections, Recurrent pneumonia, Increased ci... |
OMIM:243700 |
Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
Glutaric Aciduria Iii |
|
Diarrhea, Vomiting |
OMIM:231690 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Invasive f... |
ORPHA:83471 |
Sandhoff Disease, Juvenile Form |
|
Diarrhea, Constipation, Dysphagia |
ORPHA:309162 |
Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:1267 |
Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Decreased circulating antibody level, Agam... |
OMIM:601495 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Diarrhea, Sepsis, Mening... |
ORPHA:229717 |
Central Diabetes Insipidus |
|
Nausea and vomiting, Diarrhea, Anorexia |
ORPHA:178029 |
Hereditary Folate Malabsorption |
|
Nausea and vomiting, Recurrent respiratory infections, Recurrent urinary tract infections, Anorex... |
ORPHA:90045 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Recurrent infections, Dysphagia, Nausea |
ORPHA:352447 |
Typhoid |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Constipation, Infectious encephalitis |
ORPHA:99745 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Sepsis, Melena, Vomiting, D... |
ORPHA:319218 |
Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia |
ORPHA:228371 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Recurrent bacterial skin infections, Abnormal immunoglobulin level, Severe recurrent varicella, R... |
ORPHA:276 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Recurrent bacterial infections, Increased circulating antibody level |
OMIM:202700 |
Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
Secondary Short Bowel Syndrome |
|
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Sepsis, Enterocolitis... |
ORPHA:95427 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent sinopulmonary infections, Recurrent ear infections, Recurrent viral infections, Abdomin... |
ORPHA:486 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Small intestinal dysmotility, Poor appetite, Abdominal pain, Abdominal distention, Gastrointestin... |
ORPHA:298 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Right ventricular dilatation |
OMIM:615616 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Bloody diarrhea, Feeding difficulties |
OMIM:615119 |
Immunodeficiency 40 |
|
Severe varicella zoster infection, Recurrent pneumonia, Chronic diarrhea, Chronic oral candidiasi... |
OMIM:616433 |
Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Constipation |
OMIM:133020 |
Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting |
ORPHA:35710 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Recurrent respiratory infections, Chronic diarrhea |
OMIM:618523 |
Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea |
ORPHA:29822 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... |
ORPHA:2688 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurr... |
OMIM:613489 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Recu... |
OMIM:300291 |
Trichohepatoenteric Syndrome 2 |
|
Chronic diarrhea, Diarrhea, Colitis, Bloody diarrhea |
OMIM:614602 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Feeding difficulties in infancy, Invasive fungal infection, Recurrent mycobacterial infections, C... |
ORPHA:98813 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Recurrent herpes, Chronic diarrhea |
OMIM:607271 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... |
OMIM:307200 |
Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Recurrent otitis media, Poor suck |
OMIM:617788 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent bacterial skin infections, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:911 |
Eosinophilic Gastroenteritis |
|
Abdominal pain, Diarrhea, Steatorrhea, Hematochezia, Vomiting, Dysphagia |
ORPHA:2070 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Nausea |
ORPHA:927 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, De... |
OMIM:308230 |
Radiation Proctitis |
|
Intestinal obstruction, Diarrhea, Sepsis, Tenesmus, Hematochezia |
ORPHA:70475 |
Neuroendocrine Tumor Of The Colon |
|
Bowel urgency, Abdominal pain, Anorexia, Lack of bowel sounds, Bloody diarrhea, Protracted diarrh... |
ORPHA:100080 |
Porphyria, Acute Intermittent |
|
Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting, Nausea |
OMIM:176000 |
Visceral Myopathy 1 |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... |
OMIM:155310 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea |
OMIM:601979 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Crohn's disea... |
OMIM:616100 |
Meconium Ileus |
|
Chronic diarrhea, Meconium ileus |
OMIM:614665 |
Cog4-Cdg |
|
Neonatal sepsis, Fatal liver failure in infancy, Recurrent upper respiratory tract infections, Fe... |
ORPHA:263501 |
Alg1-Cdg |
|
Chronic diarrhea, Sepsis, Decreased liver function, Recurrent infections |
ORPHA:79327 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Episodic vomiting, Nausea |
ORPHA:100924 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Diarrhea, Sepsis, Recurrent infections, Meningitis |
ORPHA:33110 |
Immunodeficiency 9 |
|
Chronic diarrhea, BCGitis, Recurrent infections, Recurrent aphthous stomatitis, Stomatitis |
OMIM:612782 |
Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
Pancreatoblastoma |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:677 |
Rapadilino Syndrome |
|
Diarrhea, Feeding difficulties |
OMIM:266280 |
Cutaneous Mastocytoma |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79455 |
Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Recurrent respiratory infections, Diarrhea, Gastritis |
ORPHA:2575 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Chronic d... |
OMIM:242700 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Gastrointestinal dysmotility, Hyper... |
OMIM:603041 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Feeding difficulties |
OMIM:177735 |
Specific Granule Deficiency 2 |
|
Recurrent pneumonia, Sepsis, Recurrent bacterial infections, Recurrent otitis media, Intractable ... |
OMIM:617475 |
Immunodeficiency, Common Variable, 14 |
|
Chronic diarrhea, Recurrent sinusitis |
OMIM:617765 |
Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Abdominal pain |
ORPHA:54057 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Chronic diarrhea, Ulcerative colitis, Colitis, Crohn's disease |
OMIM:618394 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver function |
ORPHA:79319 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent bacterial infections |
OMIM:619693 |
Nk-Cell Enteropathy |
|
Abdominal pain, Diarrhea, Hematochezia, Constipation, Gastroesophageal reflux |
ORPHA:263665 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Anorexia |
ORPHA:49827 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Chronic diarrhea, Nausea, Recurrent infections |
OMIM:615084 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... |
ORPHA:411703 |
Immunodeficiency 25 |
|
Recurrent herpes, Recurrent pneumonia, Recurrent candida infections, Protracted diarrhea |
OMIM:610163 |
Autoinflammatory-Pancytopenia Syndrome |
|
Chronic diarrhea, Intestinal inflammation, Severe Epstein Barr virus infection |
OMIM:619858 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Abdominal pain, Encopresis, Diarrhea, Constipation, Gastroesophageal reflux, Dysphagia |
ORPHA:589821 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Recurrent infections, Vomiting, Recurrent lower... |
OMIM:226300 |
Autoinflammation With Infantile Enterocolitis |
|
Feeding difficulties in infancy, Meningitis, Secretory diarrhea, Enterocolitis, Episodic vomiting |
OMIM:616050 |
Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Chronic diarrhea, Anorexia, Abdominal pain |
ORPHA:65682 |
Classic Galactosemia |
|
Diarrhea, Sepsis, Feeding difficulties, Vomiting, Hepatic failure |
ORPHA:79239 |
Necrotizing Enterocolitis |
|
Neonatal sepsis, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting |
ORPHA:391673 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... |
ORPHA:67 |
Congenital Toxoplasmosis |
|
Diarrhea |
ORPHA:858 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Recurrent upper respiratory tract infections, Sepsis, Recurrent can... |
ORPHA:436159 |
Neuroendocrine Tumor Of Stomach |
|
Nausea and vomiting, Bowel urgency, Poor appetite, Anorexia, Hematemesis, Lack of bowel sounds, B... |
ORPHA:100075 |
Selective Igm Deficiency |
|
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Sepsis,... |
ORPHA:331235 |
American Trypanosomiasis |
|
Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia, Infectious encephalitis |
ORPHA:3386 |
Leukocyte Adhesion Deficiency, Type I |
|
Recurrent gram-negative bacterial infections, Recurrent staphylococcal infections, Chronic diarrh... |
OMIM:116920 |
Immunodeficiency 85 And Autoimmunity |
|
Recurrent respiratory infections, Chronic diarrhea, Persistent EBV viremia, Vomiting, Tube feeding |
OMIM:619510 |
Lassa Fever |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Sepsis, Dysphagia |
ORPHA:99824 |
Immunodeficiency 22 |
|
Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Chronic oral candidi... |
OMIM:615758 |
Hyperprolinemia Type 2 |
|
Diarrhea, Feeding difficulties, Dysphagia, Abdominal pain |
ORPHA:79101 |
Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Recurrent respiratory infections, Diarrhea |
ORPHA:1842 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hematochezia, Vomiting |
OMIM:175500 |
Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:56425 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... |
ORPHA:343 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Chronic diarrhea, Recurrent pneumonia, Recurrent infections |
OMIM:619824 |
Methanol Poisoning |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:31825 |
Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea |
OMIM:300215 |
Aa Amyloidosis |
|
Abdominal pain, Chronic diarrhea, Malnutrition, Vomiting, Nausea |
ORPHA:85445 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, BCGosis, Recurrent pneumonia, Severe viral infection, Extrapulmonary tuber... |
OMIM:619644 |
Galactosemia I |
|
Diarrhea, Vomiting, Decreased liver function |
OMIM:230400 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Recurrent viral infections, Recurrent upper respiratory tract infections, Chroni... |
ORPHA:169154 |
Immunodeficiency 36 With Lymphoproliferation |
|
Persistent CMV viremia, Recurrent upper respiratory tract infections, Chronic diarrhea, Persisten... |
OMIM:616005 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding |
OMIM:607906 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Diarrhea, Abdominal pain |
ORPHA:54251 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting |
ORPHA:79456 |
Dengue Fever |
|
Nausea and vomiting, Diarrhea, Gastrointestinal hemorrhage, Abdominal pain |
ORPHA:99828 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent respiratory infections, Recurrent ear infections, Recurrent viral infections, Diarrhea,... |
ORPHA:79124 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
Kaposi Sarcoma |
|
Recurrent herpes, Diarrhea |
ORPHA:33276 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Neuromuscular dysphagia, Vomiting, Diarrhea |
ORPHA:449285 |
Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea |
ORPHA:100084 |
Mucopolysaccharidosis, Type Iiib |
|
Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252920 |
Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
Immunodeficiency 27A |
|
Diarrhea, Anorexia |
OMIM:209950 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Diarrhea, Vomiting, Decreased liver function |
OMIM:608104 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent sinopulmonary infections, Recurrent urinary tract infections, Abdominal pain, Diarrhea,... |
OMIM:619802 |
Omenn Syndrome |
|
Recurrent bacterial infections, Diarrhea, Recurrent fungal infections, Recurrent viral infections |
OMIM:603554 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent infections due to aspiration, Feeding difficulties in infancy, Diarrhea, Constipation, ... |
OMIM:223900 |
Familial Glucocorticoid Deficiency |
|
Recurrent urinary tract infections, Anorexia, Diarrhea, Episodic abdominal pain, Recurrent infect... |
ORPHA:361 |
Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
Yao Syndrome |
|
Diarrhea, Xerostomia, Abdominal pain |
OMIM:617321 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Diarrhea, Vomiting, Decreased liver function |
ORPHA:42 |
Mucopolysaccharidosis, Type Iiia |
|
Diarrhea, Recurrent upper respiratory tract infections |
OMIM:252900 |
Proprotein Convertase 1/3 Deficiency |
|
Diarrhea |
OMIM:600955 |
Cronkhite-Canada Syndrome |
|
Diarrhea, Anorexia, Abdominal pain |
ORPHA:2930 |
Sepsis In Premature Infants |
|
Neonatal sepsis, Disseminated viral infection, Abdominal distention, Severe infection, Gastrointe... |
ORPHA:90051 |
Graft Versus Host Disease |
|
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Recurrent infections, Vomiting, Recurren... |
ORPHA:39812 |
Legionnaires Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Recurrent pharyngitis, Diarrhea, Sepsis, Infectiou... |
ORPHA:549 |
Ethylmalonic Encephalopathy |
|
Diarrhea |
ORPHA:51188 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Diarrhea, Hepatic failure, Vomiting, Steatorrhea |
OMIM:602579 |
Blue Diaper Syndrome |
|
Diarrhea |
ORPHA:94086 |
Microvillus Inclusion Disease |
|
Abdominal distention, Diarrhea |
ORPHA:2290 |
Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea |
ORPHA:71 |
Adiposis Dolorosa |
|
Constipation, Xerostomia, Diarrhea |
ORPHA:36397 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Intestinal obstruction, Recurrent upper respiratory tract infections, Chronic diarrhea, Recurrent... |
OMIM:600802 |
Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Recurrent bacterial infections, Meningitis |
ORPHA:36412 |
Boutonneuse Fever |
|
Diarrhea, Nausea, Abdominal pain |
ORPHA:83313 |
Congenital Disorder Of Glycosylation, Type Id |
|
Diarrhea, Vomiting |
OMIM:601110 |
Hyper-Igd Syndrome |
|
Abdominal pain, Diarrhea, Chronic diarrhea, Recurrent infections, Vomiting, Chronic oral candidia... |
OMIM:260920 |
Carnitine Deficiency, Systemic Primary |
|
Diarrhea, Vomiting |
OMIM:212140 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Abdominal cramps, Decreased live... |
ORPHA:98850 |
Neuroendocrine Neoplasm Of Appendix |
|
Nausea and vomiting, Abdominal colic, Functional intestinal obstruction, Mechanical ileus, Bowel ... |
ORPHA:100079 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Abdominal pain, Severe varicella zoster infection, Meningitis... |
ORPHA:36234 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Recurrent respiratory infections, Chronic gastritis, Abdominal pain, Diarrhea, Chronic constipati... |
OMIM:301074 |
Immunodeficiency 17 |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent gastroenteritis, Chronic oral candi... |
OMIM:615607 |
Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia |
OMIM:252930 |
Shigellosis |
|
Anorexia, Abdominal pain, Peritonitis, Sepsis, Ulcerative colitis, Bloody diarrhea, Paralytic ile... |
ORPHA:810 |
Good Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Diarrhea, Dysphagia |
ORPHA:169105 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea |
OMIM:619849 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Vomiting |
OMIM:560000 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation |
OMIM:608654 |
Avian Influenza |
|
Abdominal pain, Diarrhea, Sepsis, Vomiting, Meningitis, Infectious encephalitis |
ORPHA:454836 |
Medullary Thyroid Carcinoma |
|
Diarrhea, Dysphagia |
ORPHA:1332 |
Encephalopathy, Ethylmalonic |
|
Chronic diarrhea, Feeding difficulties |
OMIM:602473 |
Familial Mediterranean Fever |
|
Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipation, Vomiting, C... |
OMIM:249100 |
Acquired Hypertrichosis Lanuginosa |
|
Chronic diarrhea, Poor appetite |
ORPHA:2221 |
Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Feeding difficulties |
OMIM:255120 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Gastroe... |
ORPHA:85450 |
Satoyoshi Syndrome |
|
Diarrhea |
OMIM:600705 |
Immunodeficiency 92 |
|
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Chronic diarrhea, Esophagitis |
OMIM:619652 |
Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
Wild Type Attr Amyloidosis |
|
Intermittent diarrhea, Gastrointestinal dysmotility, Chronic diarrhea, Bowel incontinence |
ORPHA:330001 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Diarrhea, Hepatic failure, Steatorrhea |
OMIM:607765 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Diarrhea, Vomiting, Nausea, Poor appetite |
ORPHA:542323 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent pneumonia, Chronic diarrhea, Sepsis, Meningitis |
ORPHA:47 |
Immunodeficiency 31C |
|
Recurrent respiratory infections, Diarrhea, Coccidioidomycosis, Chronic mucocutaneous candidiasis... |
OMIM:614162 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Poor appetite, Recurrent candida infections |
OMIM:201100 |
Ppoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97278 |
Agammaglobulinemia, X-Linked |
|
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Meningitis, Recurrent p... |
OMIM:300755 |
Alg8-Cdg |
|
Diarrhea, Vomiting, Feeding difficulties |
ORPHA:79325 |
Congenital Tufting Enteropathy |
|
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Vomiting, Steatorrhea |
ORPHA:92050 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Diarrhea, Hepatic failure, Steatorrhea |
OMIM:613812 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Diarrhea, Chronic diarrhea, Abdominal pain |
OMIM:617099 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Recurrent viral infections, Protracted diarrhea, Recurrent bacterial infections, Recurrent fungal... |
ORPHA:331206 |
Fabry Disease |
|
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea |
OMIM:301500 |
Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:106100 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Recurrent viral infections, Severe varicella zoster infection, ... |
OMIM:606367 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Severe cytomegalovirus infection, Diarrhea |
OMIM:619313 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Chronic diarrhea |
OMIM:618805 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Diarrhea, Vomiting, Protuberant abdomen, Steatorrhea, Hepatic failure |
OMIM:278000 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Atrophic gastritis, Recurrent pneumonia, Chronic diarrhea, Seps... |
OMIM:614700 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Chronic diarrhea |
OMIM:619484 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea |
OMIM:601847 |
Carcinoid Syndrome |
|
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain |
ORPHA:100093 |
B4Galt1-Cdg |
|
Diarrhea |
ORPHA:79332 |
Wiskott-Aldrich Syndrome |
|
Recurrent herpes, Hematemesis, Diarrhea, Recurrent upper respiratory tract infections, Recurrent ... |
OMIM:301000 |
Relapsing Fever |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:91547 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Recurrent viral infections, Diarrhea, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneou... |
OMIM:102700 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent urinary tract infections, Recurrent ear infections, Recurrent viral infections, Diarrhe... |
ORPHA:221139 |
Microscopic Polyangiitis |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Peritonitis, Gastroin... |
ORPHA:727 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea |
OMIM:211600 |
Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Functional intestinal obstruction, Intestinal pseudo-obstruction, Poor appet... |
ORPHA:1333 |
Infection-Related Hemolytic Uremic Syndrome |
|
Brain abscess, Abdominal pain, Severe infection, Diarrhea, Secretory diarrhea, Severe viral infec... |
ORPHA:544482 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Recurrent pneumonia, Bloody diarrhea, Recurrent infections, Hematochezia, Inflammation of the lar... |
OMIM:617718 |
Hereditary Angioedema Type 1 |
|
Abdominal pain, Diarrhea, Vomiting, Dysphagia, Nausea |
ORPHA:100050 |
Dpm1-Cdg |
|
Diarrhea, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Recurrent aphthous stomatitis, Steatorr... |
OMIM:212750 |
Congenital Myopathy 20 |
|
Chronic diarrhea |
OMIM:620310 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Episodic vomiting, Diarrhea, Constipation |
OMIM:105210 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea |
OMIM:608643 |
19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Recurrent infections |
OMIM:300953 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Infectious encephalitis |
ORPHA:3452 |
Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Sepsis, Constipation |
ORPHA:199299 |
Somatostatinoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97283 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
Immunodeficiency 59 And Hypoglycemia |
|
Herpes simplex encephalitis, Recurrent upper respiratory tract infections, Sepsis, Chronic diarrh... |
OMIM:233600 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Recurrent respiratory infections, Nausea and vomiting, Gastrointestinal he... |
ORPHA:36426 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Diarrhea, Vomiting |
ORPHA:263455 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Bloody diarrhea |
OMIM:614328 |
Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Diarrhea, Per... |
ORPHA:342 |
Shwachman-Diamond Syndrome 2 |
|
Exocrine pancreatic insufficiency, Diarrhea, Steatorrhea, Recurrent infections |
OMIM:617941 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic insuffi... |
ORPHA:309031 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Vomiting, Nausea, Recurrent infections |
ORPHA:79240 |
Glucagonoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97280 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Diarrhea, Atrophic gastritis, Chronic mucocutaneous candidiasis, Chronic oral candidiasis |
OMIM:240300 |
Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Abdominal pain |
OMIM:174900 |
Familial Hypoaldosteronism |
|
Nausea and vomiting, Diarrhea, Feeding difficulties |
ORPHA:427 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Unusual skin infection, Gastritis, Abdominal pain, He... |
ORPHA:73263 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent opportunistic infections,... |
ORPHA:35078 |
Carney Triad |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea |
ORPHA:139411 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea |
OMIM:602347 |
Grfoma |
|
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Poor appetite, Anorexia... |
ORPHA:97261 |
Systemic Capillary Leak Syndrome |
|
Diarrhea, Abdominal pain |
ORPHA:188 |
Acute Intermittent Porphyria |
|
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... |
ORPHA:79276 |
Mucopolysaccharidosis, Type Ii |
|
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Intestinal pseudo-obstruction |
OMIM:309900 |
Lujo Hemorrhagic Fever |
|
Fulminant hepatitis, Odynophagia, Severe viral infection, Diarrhea, Vomiting, Abdominal cramps, D... |
ORPHA:319213 |
Pediatric Systemic Lupus Erythematosus |
|
Abdominal distention, Diarrhea, Vomiting, Abdominal pain |
ORPHA:93552 |
Immunodeficiency 55 |
|
Diarrhea, Recurrent infections |
OMIM:617827 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Chronic diarrhea, Recurrent infections |
OMIM:614576 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea |
ORPHA:100085 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Diarrhea |
OMIM:242860 |
Mevalonic Aciduria |
|
Diarrhea, Vomiting, Recurrent infections |
OMIM:610377 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Vomiting, Nausea, Recurrent infections |
ORPHA:264580 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Abdominal pain, Recurrent pharyngitis, Diarrhea, Peritonitis, Constipatio... |
ORPHA:32960 |
Cholera |
|
Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting |
ORPHA:173 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Chronic diarrhea, Recurrent pneumonia, Colitis |
OMIM:301220 |
Acute Radiation Syndrome |
|
Diarrhea, Vomiting |
ORPHA:454831 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Feeding difficulties in infancy, Diarrhea, Vomiting |
ORPHA:71212 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Severe infection, Chronic diarrhea, Ileus |
OMIM:304790 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Chronic diarrhea, Sepsis, Recurrent bacterial infections, Gas... |
OMIM:617053 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Vomiting |
ORPHA:348 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Feeding difficulties in infancy, Chronic diarrhea, Gastroesopha... |
OMIM:613385 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomiting, Recurrent otitis media... |
OMIM:620233 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Intestinal obstruction, Enterocolitis, Bloody diarrhea, Hematoc... |
OMIM:243150 |
Biotinidase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:253260 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Sepsis, BCGitis |
OMIM:602450 |
Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Vomiting |
OMIM:610768 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:525731 |
Serotonin Syndrome |
|
Diarrhea, Hepatic failure, Nausea |
ORPHA:43116 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Diarrhea, Episodic vomiting, Vomiting |
OMIM:618321 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Diarrhea, Anorexia, Recurrent infections |
ORPHA:33226 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Intermittent diarrhea, Diarrhea, Constipation, Feeding difficulties |
OMIM:618050 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea |
ORPHA:324636 |
Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh... |
ORPHA:275761 |
Houge-Janssens Syndrome 1 |
|
Chronic diarrhea |
OMIM:616355 |
Neuroblastoma, Susceptibility To, 1 |
|
Diarrhea, Abdominal pain |
OMIM:256700 |
Alternating Hemiplegia Of Childhood |
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Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... |
ORPHA:2131 |
Omenn Syndrome |
|
Chronic diarrhea, Sepsis |
ORPHA:39041 |
Primary Intestinal Lymphangiectasia |
|
Abdominal pain, Cryptococcal meningitis, Chronic diarrhea, Functional abnormality of the gastroin... |
ORPHA:90362 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent respiratory infections, Gastritis, Ileus, Secretory diarrhea, Sepsis, Recurrent infecti... |
ORPHA:37042 |
Transcobalamin Ii Deficiency |
|
Diarrhea, Vomiting |
OMIM:275350 |
Acute Adrenal Insufficiency |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation, Recurrent acute respirator... |
ORPHA:95409 |
Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Recurrent upper respiratory tract infections, Dysphagia, Recurrent otitis media, Tube f... |
OMIM:252940 |
Infantile Systemic Hyalinosis |
|
Recurrent bacterial infections, Chronic diarrhea, Feeding difficulties, Steatorrhea |
ORPHA:2176 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Abdominal pain, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Acute colitis |
ORPHA:90038 |
Listeriosis |
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Brain abscess, Unusual skin infection, Abdominal pain, Meningitis, Diarrhea, Peritonitis, Unusual... |
ORPHA:533 |
Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Anorexia |
ORPHA:134 |
Bronchial Neuroendocrine Tumor |
|
Bowel urgency, Poor appetite, Anorexia, Protracted diarrhea, Hepatic failure |
ORPHA:97287 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Abdominal pain, Diarrhea, Inflammation of the large intestine... |
ORPHA:29207 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:608836 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Abdominal pain, Chronic diarrhea, Hematochezia, Recurrent bacterial infections, Inflammation of t... |
OMIM:615895 |
Immunodeficiency 82 With Systemic Inflammation |
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Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritability, Recurrent infections, Colitis,... |
OMIM:619381 |
Japanese Encephalitis |
|
Anorexia, Abdominal pain, Diarrhea, Vomiting, Meningitis, Infectious encephalitis |
ORPHA:79139 |
Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Diarrhea, Recurrent pneumonia, Ileus, Stea... |
OMIM:219700 |
Ileal Neuroendocrine Tumor |
|
Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abdominal pain, Intermi... |
ORPHA:100078 |
Turcot Syndrome With Polyposis |
|
Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea |
ORPHA:99818 |
Refractory Celiac Disease |
|
Chronic diarrhea, Malnutrition, Abdominal pain |
ORPHA:398063 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
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Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroesophageal reflux,... |
ORPHA:500055 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Diarrhea, Recurrent pneumonia, Recurrent otitis media, Recurr... |
OMIM:251260 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Abdominal distention, Secretory diarrhea |
OMIM:270420 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Steatorrhea |
OMIM:212065 |
Riddle Syndrome |
|
Abdominal pain, Recurrent viral infections, Diarrhea, Recurrent pneumonia, Recurrent sinusitis |
ORPHA:420741 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis |
OMIM:158310 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
Rat-Bite Fever |
|
Diarrhea, Sepsis, Vomiting, Meningitis, Parotitis |
ORPHA:31205 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Recurrent Aspergillus infections, Recurrent herpes, Diarrhea, Recurrent upper respiratory tract i... |
ORPHA:391487 |
Citrullinemia Type Ii |
|
Diarrhea, Vomiting |
ORPHA:247585 |
Dominant Beta-Thalassemia |
|
Chronic infection, Diarrhea, Feeding difficulties |
ORPHA:231226 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Reye syndrome-like episodes, Diarrhea, Episodic vomiting, Anorexia |
ORPHA:20 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Hematochezia, Melena, Intestinal bleeding |
ORPHA:79076 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Bloody diarrhea, Hematochezia, Feeding difficulties, R... |
OMIM:615846 |
Colchicine Poisoning |
|
Diarrhea, Vomiting, Nausea |
ORPHA:31824 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... |
OMIM:618213 |
Zollinger-Ellison Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Diarrhea, Episodic abdominal pain, Hematoche... |
ORPHA:913 |
Melas |
|
Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Vomiting, Constipation |
ORPHA:550 |
Microsporidiosis |
|
Brain abscess, Anorexia, Abdominal pain, Peritonitis, Chronic diarrhea, Sepsis, Vomiting, Bronchi... |
ORPHA:2552 |
Dopamine Beta-Hydroxylase Deficiency |
|
Diarrhea, Vomiting |
ORPHA:230 |
Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Dysphagia |
OMIM:616457 |
Familial Gestational Hyperthyroidism |
|
Diarrhea |
ORPHA:99819 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea |
OMIM:226730 |
Osteootohepatoenteric Syndrome |
|
Episodic vomiting, Increased intestinal transit time, Secretory diarrhea, Abdominal pain |
OMIM:619377 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Reye syndrome-like episodes, Diarrhea, Abdominal distention, Vomiting, Hep... |
OMIM:256810 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Chronic diarrhea, Recurrent infections |
OMIM:601675 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
Lysinuric Protein Intolerance |
|
Protein avoidance, Diarrhea, Malnutrition, Vomiting, Nausea |
OMIM:222700 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Malnutrition |
ORPHA:96180 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Nausea, Abdominal pain |
ORPHA:98849 |
Trichohepatoneurodevelopmental Syndrome |
|
Chronic diarrhea, Recurrent infections, Feeding difficulties, Gastroesophageal reflux, Decreased ... |
OMIM:618268 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hematochezia, Recurrent upper respiratory tract infections, Secretory diarrhea, Feeding difficulties |
OMIM:618183 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Secretory diarrhea |
OMIM:214700 |
Farber Disease |
|
Chronic diarrhea, Hepatic failure, Recurrent upper respiratory tract infections, Feeding difficul... |
ORPHA:333 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea |
ORPHA:424 |
Beta-Thalassemia Major |
|
Chronic infection, Diarrhea, Feeding difficulties |
ORPHA:231214 |
Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Chronic diarrhea, Recurrent infections, Vomiting, Steatorrhea, Hepatic failure, Exocrin... |
OMIM:557000 |
Leukocyte Adhesion Deficiency Type Ii |
|
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent pneumonia, Chronic ... |
ORPHA:99843 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Diarrhea, Feeding difficulties, Recurrent infections |
OMIM:618278 |
Hemorrhagic Fever-Renal Syndrome |
|
Abdominal pain, Hematemesis, Severe infection, Diarrhea, Melena, Vomiting, Nausea |
ORPHA:340 |
Congenital Disorder Of Glycosylation, Type It |
|
Recurrent otitis media, Chronic diarrhea, Vomiting |
OMIM:614921 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Recurrent viral infections, Secretory diarrhea, Se... |
OMIM:619573 |
Plague |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Sepsis, Enterocolitis, Bloody diarrhea, Inflamma... |
ORPHA:707 |
Mitchell-Riley Syndrome |
|
Diarrhea |
OMIM:615710 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Recurrent gastroenteritis, Bloody diarrhea |
ORPHA:294023 |
Distal Renal Tubular Acidosis |
|
Diarrhea, Constipation, Vomiting, Poor appetite |
ORPHA:18 |
Cerebrotendinous Xanthomatosis |
|
Pseudobulbar paralysis, Diarrhea |
OMIM:213700 |
Cockayne Syndrome Type 1 |
|
Diarrhea |
ORPHA:90321 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Diarrhea |
OMIM:235400 |
Sandhoff Disease |
|
Chronic diarrhea, Episodic abdominal pain |
OMIM:268800 |
Kawasaki Disease |
|
Nausea and vomiting, Abdominal pain, Recurrent pharyngitis, Diarrhea, Meningitis |
ORPHA:2331 |
Acrodermatitis Enteropathica |
|
Chronic diarrhea, Poor appetite, Anorexia |
ORPHA:37 |
Secondary Intestinal Lymphangiectasia |
|
Abdominal colic, Intestinal obstruction, Chronic diarrhea, Recurrent infections, Intestinal bleed... |
ORPHA:90363 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
Multiple Endocrine Neoplasia, Type Iib |
|
Diarrhea, Constipation |
OMIM:162300 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Recurrent respiratory infections, Chronic diarrhea, Recurrent infection of the gastrointestinal t... |
OMIM:612132 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Diarrhea, Enterocolitis, Ulcerative colitis, Recurrent bacterial infections, Inflammation of the ... |
ORPHA:79259 |
Syndromic Diarrhea |
|
Gastritis, Bloody diarrhea, Recurrent infections, Colitis, Intractable diarrhea, Dependency on in... |
ORPHA:84064 |
Rothmund-Thomson Syndrome Type 1 |
|
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding |
ORPHA:221008 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hematemesis, Bloody diarrhea, Hematochezia, Melena |
ORPHA:464321 |
Immunodeficiency 47 |
|
Recurrent bacterial infections, Chronic diarrhea, Exocrine pancreatic insufficiency, Recurrent in... |
OMIM:300972 |
Addison Disease |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Constipation |
ORPHA:85138 |
Multiple Endocrine Neoplasia, Type I |
|
Diarrhea, Esophagitis |
OMIM:131100 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Chronic diarrhea |
ORPHA:457279 |
Marburg Hemorrhagic Fever |
|
Anorexia, Abdominal pain, Severe infection, Odynophagia, Diarrhea, Bloody diarrhea, Vomiting, Nausea |
ORPHA:99826 |
Rothmund-Thomson Syndrome |
|
Nasogastric tube feeding in infancy, Diarrhea, Vomiting |
ORPHA:2909 |
Dubowitz Syndrome |
|
Feeding difficulties in infancy, Chronic diarrhea, Recurrent infections, Gastroesophageal reflux,... |
OMIM:223370 |
Mednik Syndrome |
|
Diarrhea |
OMIM:609313 |
Rothmund-Thomson Syndrome Type 2 |
|
Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Nasogastric tube feeding |
ORPHA:221016 |
Hurler Syndrome |
|
Recurrent respiratory infections, Chronic diarrhea, Feeding difficulties |
ORPHA:93473 |
Malakoplakia |
|
Diarrhea, Abdominal pain |
ORPHA:556 |
Alg9-Cdg |
|
Gastroesophageal reflux, Diarrhea, Vomiting |
ORPHA:79328 |
Ogden Syndrome |
|
Diarrhea, Dysphagia, Feeding difficulties, Recurrent infections, Vomiting, Tube feeding, Recurren... |
OMIM:300855 |
Vipoma |
|
Nausea and vomiting, Poor appetite, Anorexia, Secretory diarrhea, Episodic abdominal pain, Hemato... |
ORPHA:97282 |
Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Gastroesophageal reflux, Vomiting, Const... |
ORPHA:652 |
Chronic Graft Versus Host Disease |
|
Anorexia, Abdominal pain, Diarrhea, Xerostomia, Recurrent infections, Gastroesophageal reflux, Dy... |
ORPHA:99921 |
Lysinuric Protein Intolerance |
|
Diarrhea, Feeding difficulties, Recurrent bacterial infections, Vomiting, Steatorrhea, Hepatic fa... |
ORPHA:470 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Recurrent tonsillitis, Constipation, Protuberant abdomen, Dys... |
ORPHA:581 |
Peutz-Jeghers Syndrome |
|
Abdominal pain, Intestinal bleeding, Bloody diarrhea |
OMIM:175200 |
Wiskott-Aldrich Syndrome |
|
Recurrent respiratory infections, Hematemesis, Chronic diarrhea, Sepsis, Hematochezia, Inflammati... |
ORPHA:906 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Abdominal distention, Diarrhea, Malnutriti... |
OMIM:619991 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Chronic diarrhea |
OMIM:613989 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Chronic diarrhea, Feeding d... |
OMIM:615873 |
Yellow Fever |
|
Abdominal pain, Hematemesis, Diarrhea, Vomiting, Opportunistic infection, Nausea |
ORPHA:99829 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Abdominal distention, Recurrent abscess formation, Bloody diarrhea |
ORPHA:436252 |
Cocaine Intoxication |
|
Abdominal pain, Bloody diarrhea, Gastrointestinal infarctions, Colitis, Vomiting, Nausea |
ORPHA:90068 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux |
ORPHA:3164 |
Glycogen Storage Disease Ia |
|
Intermittent diarrhea, Protuberant abdomen |
OMIM:232200 |
Ataxia-Telangiectasia |
|
Recurrent lower respiratory tract infections, Chronic diarrhea, Recurrent bronchitis |
OMIM:208900 |
Diamond-Blackfan Anemia 21 |
|
Chronic diarrhea |
OMIM:620072 |
Multiple Endocrine Neoplasia Type 2 |
|
Abdominal distention, Diarrhea, Constipation |
ORPHA:653 |
Sapho Syndrome |
|
Inflammation of the large intestine, Chronic diarrhea, Steatorrhea, Abdominal pain |
ORPHA:793 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Chronic constipation, Chronic diarrhea |
OMIM:619005 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections, Chroni... |
ORPHA:647 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Diarrhea, Poor appetite |
ORPHA:247598 |
Dubowitz Syndrome |
|
Chronic diarrhea, Recurrent infections |
ORPHA:235 |
Idiopathic Hypereosinophilic Syndrome |
|
Abdominal pain, Feeding difficulties in infancy, Abdominal distention, Chronic diarrhea, Colitis,... |
ORPHA:3260 |
Chikungunya |
|
Diarrhea, Infectious encephalitis, Vomiting |
ORPHA:324625 |
Gitelman Syndrome |
|
Nausea and vomiting, Diarrhea, Constipation, Abdominal pain |
ORPHA:358 |
Crimean-Congo Hemorrhagic Fever |
|
Nausea and vomiting, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Melena, Hepatic failure, Pa... |
ORPHA:99827 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Feeding difficulties in infancy, Nasoga... |
ORPHA:273 |
Deeah Syndrome |
|
Chronic constipation, Chronic diarrhea, Dysphagia, Exocrine pancreatic insufficiency |
OMIM:619004 |
Bartter Syndrome, Type 1, Antenatal |
|
Constipation, Vomiting, Diarrhea |
OMIM:601678 |
Leptospirosis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Diarrhea, Meningitis |
ORPHA:509 |
Multiple Endocrine Neoplasia Type 4 |
|
Diarrhea, Esophagitis, Episodic abdominal pain |
ORPHA:276152 |
Pearson Syndrome |
|
Severe infection, Chronic diarrhea, Steatorrhea, Dysphagia, Hepatic failure, Poor suck, Exocrine ... |
ORPHA:699 |
Scorpion Envenomation |
|
Diarrhea, Vomiting, Abdominal pain |
ORPHA:466677 |
Abetalipoproteinemia |
|
Chronic diarrhea, Vomiting, Steatorrhea |
ORPHA:14 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chronic diarrhea, Recurrent pneumonia, Sepsis |
ORPHA:158668 |
Bartter Syndrome, Type 2, Antenatal |
|
Constipation, Vomiting, Diarrhea |
OMIM:241200 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Xerostomia, Sepsis, Gastroin... |
ORPHA:95455 |
Trichohepatoenteric Syndrome 1 |
|
Intractable diarrhea, Hepatic failure |
OMIM:222470 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nausea |
ORPHA:90062 |
Lipodystrophy, Familial Partial, Type 7 |
|
Diarrhea, Feeding difficulties, Vomiting, Dysphagia |
OMIM:606721 |
Proximal Renal Tubular Acidosis |
|
Diarrhea, Vomiting |
ORPHA:47159 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217085 |
Juvenile Polyposis Syndrome |
|
Gastrointestinal hemorrhage, Brain abscess, Abdominal pain, Diarrhea, Hematochezia |
ORPHA:2929 |
Mucopolysaccharidosis Type 2 |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Chronic diarrhea, Recurrent upper respiratory tract infections, Recurrent ear infections |
ORPHA:217093 |
Zttk Syndrome |
|
Feeding difficulties in infancy, Chronic diarrhea, Feeding difficulties |
OMIM:617140 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Feeding difficulties in infancy, Gastrointestinal dysmotility, Chronic diarrhea, R... |
ORPHA:500150 |
Nmda Receptor Encephalitis |
|
Diarrhea, Vomiting |
ORPHA:217253 |
Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Diarrhea |
OMIM:208400 |
Occipital Horn Syndrome |
|
Chronic diarrhea |
OMIM:304150 |
African Trypanosomiasis |
|
Diarrhea, Vomiting, Nausea |
ORPHA:3385 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diarrhea, Recurrent cutaneous fungal infections, Anorexia |
ORPHA:99889 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Intermittent diarrhea, Feeding difficulties, Exocrine pancreatic insufficiency |
ORPHA:2255 |
Viss Syndrome |
|
Chronic gastritis, Abdominal distention, Chronic diarrhea, Feeding difficulties, Chronic constipa... |
OMIM:619472 |