| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Coxsackievirus B3 Susceptibility |
|
Recurrent viral infections |
OMIM:120050 |
| Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Uterine Anomalies |
|
Bicornuate uterus, Abnormality of the uterus |
OMIM:192000 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... |
ORPHA:209964 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Immunoerythromyeloid Hypoplasia |
|
Decreased circulating IgG level |
OMIM:242880 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Inflammatory Bowel Disease 11 |
|
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine |
OMIM:191390 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level |
OMIM:235550 |
| Cap Polyposis |
|
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... |
ORPHA:160148 |
| Lactose Intolerance, Adult Type |
|
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... |
OMIM:223100 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Defective T cell proliferation, Reduced antigen-specific T cell ... |
OMIM:615897 |
| Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Decreased circulating antibody level |
OMIM:616911 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:613494 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM |
OMIM:236000 |
| Histiocytosis, Familial Lipochrome |
|
Increased circulating antibody level |
OMIM:235900 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level |
OMIM:242870 |
| Vascular Hyalinosis |
|
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy |
OMIM:277175 |
| Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr... |
ORPHA:263665 |
| Immunodeficiency, Common Variable, 5 |
|
Chronic decreased circulating total IgG |
OMIM:613495 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100082 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy |
ORPHA:103910 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Increased circulating IgG3 level |
OMIM:619773 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... |
OMIM:618944 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease |
OMIM:613148 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Eosinophilic Gastroenteritis |
|
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... |
ORPHA:2070 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:616452 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hematochezia, Hamartomat... |
OMIM:175500 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... |
OMIM:174900 |
| Hereditary Mixed Polyposis Syndrome |
|
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
| Congenital Factor V Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:326 |
| Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... |
OMIM:614699 |
| Severe Combined Immunodeficiency, X-Linked |
|
Reduced natural killer cell activity, Recurrent pneumonia, Agammaglobulinemia, Decreased circulat... |
OMIM:300400 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... |
OMIM:243150 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM |
OMIM:153600 |
| Trehalase Deficiency |
|
Diarrhea, Abdominal pain |
OMIM:612119 |
| Immunoglobulin A Deficiency 2 |
|
Decreased circulating IgA level |
OMIM:609529 |
| Turcot Syndrome With Polyposis |
|
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... |
ORPHA:99818 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level |
OMIM:162700 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... |
OMIM:613493 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM |
OMIM:606445 |
| Trehalase Deficiency |
|
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting |
ORPHA:103909 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:619707 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... |
ORPHA:2198 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level |
OMIM:616636 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM |
OMIM:610798 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... |
ORPHA:70475 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Cachexia, Abdominal pain, High, narrow palate, Di... |
ORPHA:79076 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level |
OMIM:233650 |
| Hirschsprung Disease |
|
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... |
ORPHA:388 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:613502 |
| Kimura Disease |
|
Increased circulating IgE level |
ORPHA:482 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level |
OMIM:137100 |
| Immunodeficiency 25 |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
OMIM:610163 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgG level, Increased circulating IgE level |
OMIM:618982 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:618987 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:615767 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... |
OMIM:619632 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... |
ORPHA:329971 |
| Zollinger-Ellison Syndrome |
|
Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison syndrome, Pituitary pro... |
ORPHA:913 |
| Immunodeficiency 50 |
|
Decreased circulating antibody level |
OMIM:300988 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... |
OMIM:606528 |
| Diarrhea 9 |
|
Diarrhea, Failure to thrive, Villous atrophy |
OMIM:618168 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:619220 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:613500 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia |
OMIM:200900 |
| Intestinal Dysmotility Syndrome |
|
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... |
OMIM:620045 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Recurrent infections |
OMIM:614493 |
| Immunodeficiency 61 |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... |
OMIM:300310 |
| Transcobalamin Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:859 |
| Angioedema, Hereditary, 8 |
|
Diarrhea, Episodic vomiting, Abdominal pain |
OMIM:619367 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium |
OMIM:616868 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Abnormal immunoglobulin level |
OMIM:614102 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Vaginal mucosal ulceration |
OMIM:618287 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Reduced natural killer cell activity, Recurrent pneumonia, Decreased circulating total IgM, Recur... |
OMIM:619281 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... |
OMIM:618459 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... |
ORPHA:100080 |
| Sucrase-Isomaltase Deficiency, Congenital |
|
Abdominal pain, Diarrhea, Malabsorption |
OMIM:222900 |
| Secretory Component Deficiency |
|
Intermittent diarrhea |
OMIM:269650 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time, Hepatic failure, Fat malabsorption, Failure to thrive |
OMIM:214950 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... |
ORPHA:464321 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain |
OMIM:619182 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Abnormal natural killer cell physiology, Recurrent ... |
OMIM:613101 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... |
ORPHA:103907 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Abdominal colic, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy, Failure to thrive |
OMIM:615863 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Diarrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Steatorrhe... |
OMIM:613812 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... |
OMIM:266600 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Decreased circulating total IgM, Increased circulating IgE level |
OMIM:617638 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level |
OMIM:247800 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... |
OMIM:617241 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Vomiting, Enterocolitis, Abdominal pain |
OMIM:260005 |
| Immunodeficiency 20 |
|
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent sinusitis, Recu... |
OMIM:615707 |
| Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... |
OMIM:203300 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... |
OMIM:613217 |
| Neuroendocrine Tumor Of Stomach |
|
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi... |
ORPHA:100075 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... |
OMIM:619079 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... |
OMIM:612692 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:616941 |
| Rabies |
|
Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia |
ORPHA:770 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea |
OMIM:251850 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level |
OMIM:312863 |
| Vipoma |
|
Neoplasm of the pancreas, Nausea and vomiting, Follicular thyroid carcinoma, Anorexia, Malabsorpt... |
ORPHA:97282 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:618534 |
| Congenital Sucrase-Isomaltase Deficiency |
|
Abdominal colic, Abdominal distention, Diarrhea, Vomiting |
ORPHA:35122 |
| Bile Acid Malabsorption, Primary, 1 |
|
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive |
OMIM:613291 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... |
ORPHA:98813 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... |
ORPHA:2494 |
| Coproporphyria, Hereditary |
|
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach... |
OMIM:121300 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent urinary tract infections, Reduced natural killer cell activity, Recurrent upper respira... |
OMIM:615559 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Diarrhea, Vomiting |
OMIM:605911 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level |
OMIM:314000 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Immunodeficiency 67 |
|
Increased circulating IgE level |
OMIM:607676 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Panhypogammaglobulinemia |
OMIM:615214 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:193670 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
| Immunodeficiency 70 |
|
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating total IgG... |
OMIM:618969 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... |
ORPHA:251992 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level |
OMIM:300076 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Wiskott-Aldrich Syndrome |
|
Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Internal hemorrhage, Prol... |
ORPHA:906 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Immunodeficiency 15B |
|
Agammaglobulinemia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulat... |
OMIM:615592 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ... |
OMIM:617718 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:611926 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,... |
OMIM:615895 |
| Congenital Short Bowel Syndrome |
|
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... |
OMIM:615237 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent respiratory infections, Dysgammaglobulinemia, Reduced natural killer cell activity, Rec... |
OMIM:308240 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
| Immunodeficiency 104 |
|
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections |
OMIM:608971 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level |
OMIM:212050 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... |
OMIM:620282 |
| Zygomycosis |
|
Gastrointestinal hemorrhage, Pericarditis, Gastritis, Epistaxis, Hematological neoplasm, Hemateme... |
ORPHA:73263 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... |
OMIM:615513 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Increased circulating IgE level, Lack of T cell function |
ORPHA:277 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Incr... |
OMIM:300291 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Hemangioma |
OMIM:106070 |
| Lymphoproliferative Syndrome 3 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating antibody ... |
OMIM:618261 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:610370 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... |
ORPHA:2869 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level |
ORPHA:90159 |
| Acute Lung Injury |
|
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Sepsis, A... |
ORPHA:178320 |
| Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
| Immunodeficiency 105 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:619924 |
| Brunner Syndrome |
|
Diarrhea |
OMIM:300615 |
| Diarrhea 12, With Microvillus Atrophy |
|
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... |
OMIM:619445 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:601859 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Furrowed tongu... |
ORPHA:2930 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties |
OMIM:620270 |
| Chylomicron Retention Disease |
|
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... |
OMIM:246700 |
| Diarrhea 6 |
|
Chronic diarrhea, Crohn's disease, Abdominal pain |
OMIM:614616 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... |
OMIM:619824 |
| Immunodeficiency, Common Variable, 2 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... |
OMIM:240500 |
| Monosomy 13Q34 |
|
Epistaxis, Obesity, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis |
ORPHA:96168 |
| Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Hematological neoplasm, Gastrointes... |
ORPHA:99147 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:614265 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Secretory diarrhea, Feeding difficulties, Hematochezia, Decreased circulating antibody level, Pro... |
OMIM:618183 |
| Immunodeficiency 37 |
|
Decreased circulating antibody level |
OMIM:616098 |
| Immunodeficiency 81 |
|
Recurrent cutaneous abscess formation, Reduced natural killer cell activity, Recurrent infections... |
OMIM:619374 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
| Immunodeficiency 48 |
|
Diarrhea, Failure to thrive, Panhypogammaglobulinemia |
OMIM:269840 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,... |
ORPHA:853 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Hematochezia |
ORPHA:79095 |
| Plasma Clot Retraction Factor, Deficiency Of |
|
Gastrointestinal hemorrhage, Bruising susceptibility |
OMIM:262800 |
| Folate Malabsorption, Hereditary |
|
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption |
OMIM:229050 |
| 20Q13.33 Microdeletion Syndrome |
|
Hematochezia, Small for gestational age, Failure to thrive in infancy |
ORPHA:261311 |
| Immunodeficiency 96 |
|
Decreased circulating total IgM, Defective T cell proliferation, Decreased circulating IgG level,... |
OMIM:619774 |
| Reticular Dysgenesis |
|
Malabsorption, Diarrhea, Decreased circulating antibody level, Weight loss, Failure to thrive |
ORPHA:33355 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ... |
ORPHA:319218 |
| Caudal Duplication Anomaly |
|
Uterus didelphys |
OMIM:607864 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... |
ORPHA:873 |
| Familial Hypofibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding |
ORPHA:98881 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... |
OMIM:607594 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level |
ORPHA:2643 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Decrease... |
ORPHA:540 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level |
ORPHA:99811 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level |
OMIM:270300 |
| Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, Inflammation of the ... |
OMIM:618108 |
| Glucose/Galactose Malabsorption |
|
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive |
OMIM:606824 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... |
ORPHA:424019 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:618523 |
| Familial Colorectal Cancer Type X |
|
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... |
ORPHA:440437 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematemesis, Diarrhea, Vasculitis, Bloody diarrhea, Hematochezia, Hypertensio... |
OMIM:615846 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgG level |
OMIM:618495 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:617744 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:614069 |
| Insulin Autoimmune Syndrome |
|
Increased circulating antibody level |
ORPHA:411593 |
| Acquired Hypertrichosis Lanuginosa |
|
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Weight loss, Macroglossia, Neoplasm, Neoplasm ... |
ORPHA:2221 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the colon, ... |
ORPHA:44890 |
| Enteric Anendocrinosis |
|
Diarrhea, Vomiting, Portal hypertension, Malabsorption |
ORPHA:83620 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level |
OMIM:616873 |
| Myopathy, Myofibrillar, 1 |
|
Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,... |
OMIM:601419 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating total IgM, Decreased circulating IgG level, Increased circulating IgE level... |
OMIM:619752 |
| Immunodeficiency 76 |
|
Chronic diarrhea, Colitis, B-cell lymphoma |
OMIM:619164 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Trichohepatoenteric Syndrome 2 |
|
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... |
OMIM:614602 |
| Lynch Syndrome |
|
Intestinal polyposis, Pancreatic adenocarcinoma, Abdominal pain, Neoplasm of the rectum, Basal ce... |
ORPHA:144 |
| Immunodeficiency 27A |
|
Increased circulating IgG level, Increased circulating IgM level |
OMIM:209950 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity |
OMIM:608898 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgG level, Increased circulating IgE level, Decreased circulating total IgM |
OMIM:243700 |
| Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... |
ORPHA:2924 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level |
OMIM:618048 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation, Failur... |
OMIM:619575 |
| Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Vomiting, Protein-losing enteropathy,... |
ORPHA:79319 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Failure to thrive, Diarrhea, Absent isohemagglutinin level |
OMIM:613501 |
| Igg4-Related Aortitis |
|
Complement deficiency, Increased circulating IgE level, Increased circulating antibody level, Inc... |
ORPHA:449400 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... |
OMIM:175050 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:169154 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level |
ORPHA:217390 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Gastroparesis, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intes... |
OMIM:603041 |
| Attrv30M Amyloidosis |
|
Diarrhea, Atrioventricular block, Weight loss, Cardiomyopathy, Constipation, Arrhythmia |
ORPHA:85447 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive |
OMIM:612075 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Lymphoproliferative disorder, Neoplasm by anatomical s... |
ORPHA:33276 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level |
OMIM:152800 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:618394 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Diarrhea, Constipation |
OMIM:615548 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Increased circulating IgE level |
OMIM:147060 |
| Hyaline Fibromatosis Syndrome |
|
Diarrhea, Failure to thrive, Gingival fibromatosis |
OMIM:228600 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... |
ORPHA:298 |
| Cholesteryl Ester Storage Disease |
|
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix |
ORPHA:75234 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties |
OMIM:619971 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
| Sandhoff Disease, Juvenile Form |
|
Diarrhea, Failure to thrive, Constipation, Dysphagia |
ORPHA:309162 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption |
ORPHA:79301 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level |
OMIM:202700 |
| Immunodeficiency, Common Variable, 6 |
|
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... |
OMIM:613496 |
| Tempi Syndrome |
|
Increased circulating IgG level |
ORPHA:284227 |
| Hereditary Central Diabetes Insipidus |
|
Diarrhea, Vomiting, Weight loss |
ORPHA:30925 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased circulating antibody level |
OMIM:619846 |
| Diarrhea 13 |
|
Failure to thrive, Secretory diarrhea, Vomiting |
OMIM:620357 |
| Familial Pancreatic Carcinoma |
|
Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti... |
ORPHA:1333 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... |
OMIM:301082 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Malabsorption, Obesity, Villous atrophy |
OMIM:600955 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:619705 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Diarrhea, Weight loss, Neoplasm of the lung, Pheochromocytoma, D... |
ORPHA:1332 |
| Multiple Endocrine Neoplasia Type 1 |
|
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... |
ORPHA:652 |
| Carcinoid Syndrome |
|
Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He... |
ORPHA:100093 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Neoplas... |
ORPHA:543 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Feeding difficulties |
OMIM:620368 |
| Immunodeficiency 43 |
|
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... |
OMIM:241600 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level |
OMIM:615285 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level |
ORPHA:100024 |
| Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:300510 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
| Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... |
OMIM:155310 |
| Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Anorexia, Hematological neoplasm, Malabsorption, Portal hypertension... |
ORPHA:98850 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... |
OMIM:301081 |
| Caffey Disease |
|
Increased circulating antibody level |
ORPHA:1310 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... |
OMIM:308230 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased circulating IgA level |
OMIM:614878 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... |
OMIM:603909 |
| Cog7-Cdg |
|
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties |
ORPHA:79333 |
| Boutonneuse Fever |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:83313 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:231200 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... |
ORPHA:85446 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ... |
OMIM:248360 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level |
ORPHA:206594 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... |
ORPHA:276 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... |
ORPHA:97286 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Diarrhea, Failure to thrive, Panhypogammaglobulinemia, Failure to thrive secondary to recurrent i... |
OMIM:601457 |
| Neuroendocrine Neoplasm Of Appendix |
|
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... |
ORPHA:100079 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Poor appetite, Myelodysplasia, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomit... |
ORPHA:927 |
| Central Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive |
ORPHA:178029 |
| Snakebite Envenomation |
|
Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne... |
ORPHA:449285 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:619510 |
| Typhoid |
|
Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A... |
ORPHA:99745 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,... |
ORPHA:99828 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:620210 |
| Autosomal Agammaglobulinemia |
|
Malabsorption, Diarrhea, Agammaglobulinemia, High palate, Failure to thrive, Verrucae |
ORPHA:33110 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Protein-losing enterop... |
OMIM:602579 |
| Premature Ovarian Failure 7 |
|
Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy |
OMIM:612964 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, First degree atrioventricular block, Abdominal pain, Diarrhea, Encopresis, P... |
ORPHA:589821 |
| Enterokinase Deficiency |
|
Diarrhea, Failure to thrive |
OMIM:226200 |
| Hypomelia With Mullerian Duct Anomalies |
|
Uterus didelphys, Longitudinal vaginal septum |
OMIM:146160 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Decreased ci... |
OMIM:226300 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Increased circulating IgA level, Abdominal p... |
ORPHA:343 |
| Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
| Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Lymphoproliferative disorder, Epistaxis, Increased circulating IgA level... |
OMIM:301000 |
| Chromosome 19P13.13 Deletion Syndrome |
|
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting |
OMIM:613638 |
| Autoinflammation With Infantile Enterocolitis |
|
Villous atrophy, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secretory diarrhea... |
OMIM:616050 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Diarrhea, Lymphoma, Lymphocytic infiltration of the colorectal mucosa, Decrea... |
ORPHA:436159 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
| Ppoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97278 |
| Vaginal Atresia |
|
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... |
ORPHA:65681 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Decreased circul... |
OMIM:616100 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction |
OMIM:137560 |
| Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
| Dracunculiasis |
|
Nausea and vomiting, Diarrhea |
ORPHA:231 |
| Immune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... |
ORPHA:3002 |
| Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
| Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
| Grfoma |
|
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... |
ORPHA:97261 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Tachycardia, Poor appetite, Heart block, Diarr... |
ORPHA:542323 |
| Maculopapular Cutaneous Mastocytosis |
|
Diarrhea, Vomiting, Nausea, Abdominal pain |
ORPHA:79457 |
| Rapadilino Syndrome |
|
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate |
OMIM:266280 |
| Thrombocytopenia 1 |
|
Increased circulating IgE level, Increased circulating IgA level |
OMIM:313900 |
| Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... |
ORPHA:849 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, M... |
ORPHA:100924 |
| Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Hematological neoplasm... |
ORPHA:3243 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Decreased circulating IgA level |
OMIM:618282 |
| Angiostrongyliasis |
|
Increased circulating specific IgE antibody, Increased circulating IgG level, Increased circulati... |
ORPHA:74 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:617388 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... |
ORPHA:139411 |
| Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... |
OMIM:273800 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Intestinal obstruction, Abdominal pain, Congestive heart failure, Diarrhea, Gastrointestinal dysm... |
ORPHA:67 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level |
OMIM:215250 |
| Pancreatic Colipase Deficiency |
|
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:309108 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Diarrhea, Failure to thrive, Fat malabsorption, Hepatocellular carcinoma |
OMIM:601847 |
| Isolated Agammaglobulinemia |
|
Diarrhea, Failure to thrive, Malabsorption |
ORPHA:229717 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... |
ORPHA:169160 |
| Immunodeficiency 19 |
|
Failure to thrive, Chronic diarrhea |
OMIM:615617 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Feeding difficulties, Bloody diarrhea |
OMIM:615119 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... |
ORPHA:65682 |
| Immunodeficiency 46 |
|
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level |
OMIM:616740 |
| American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Congestive heart fail... |
ORPHA:3386 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Pancreatic islet cell adenoma, Diarrhea, Pituitary adenoma, Insulinoma, Parathyroid... |
OMIM:131100 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Increased circulating IgM level, Failur... |
OMIM:242860 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:615577 |
| Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:617565 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Decreased lymphocyte apoptosis, Increased circulating antibody level |
OMIM:614470 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
| Congenital Factor Xi Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... |
ORPHA:329 |
| Sneddon Syndrome |
|
Decreased circulating total IgM |
OMIM:182410 |
| Netherton Syndrome |
|
Decreased circulating IgG level, Increased circulating IgE level |
OMIM:256500 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, D... |
ORPHA:85450 |
| Porphyria, Acute Intermittent |
|
Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Constipation, Vomiting, Hep... |
OMIM:176000 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Increased circulating interleukin 6 concentration, Tachycardia, Epistaxis, Abdominal pain,... |
ORPHA:340 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Diarrhea, Hepatic failure, Steatorrhea |
OMIM:235555 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula |
OMIM:601110 |
| Refractory Celiac Disease |
|
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Lymphoma, Malnutrition, Weight ... |
ORPHA:398063 |
| Somatostatinoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97283 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... |
OMIM:175200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Diarrhea, Vomiting, Abdominal pain |
OMIM:620137 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level |
ORPHA:99965 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Abdominal distention, Patent ductus arteriosus, Diarrhea, Vomiting, Protein-losing enteropathy, D... |
OMIM:608104 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... |
ORPHA:131 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Decreased circulating antibody level |
OMIM:618042 |
| Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus |
OMIM:617442 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom... |
ORPHA:100085 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure |
OMIM:607765 |
| Glutaric Aciduria Iii |
|
Hypertension, Diarrhea, Failure to thrive, Vomiting |
OMIM:231690 |
| Immunodeficiency 69 |
|
Diarrhea, Failure to thrive |
OMIM:618963 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... |
OMIM:194072 |
| Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Diarrhea, Failure to thrive, Fat malabsorption, Epistaxis |
OMIM:211600 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal obstruction, Decreased circulating IgG1 level, Intestinal lymphedema, Increased stool ... |
ORPHA:90363 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... |
ORPHA:79456 |
| Adult Intestinal Botulism |
|
Diarrhea |
ORPHA:178487 |
| Methanol Poisoning |
|
Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Diarrhea, Permanent atrial fibrillati... |
ORPHA:31825 |
| Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
| Microvillus Inclusion Disease |
|
Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Abnormal small intestinal villus mo... |
ORPHA:2290 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... |
ORPHA:2975 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Myelodysplasia, Abdominal pain, Diarrhea, Acute lymphoblastic leukemia, R... |
ORPHA:486 |
| Chylomicron Retention Disease |
|
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive |
ORPHA:71 |
| Immunodeficiency 92 |
|
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... |
OMIM:619652 |
| Xq28 (MECP2) duplication |
|
Decreased circulating IgA level |
DECIPHER:45 |
| Ileal Neuroendocrine Tumor |
|
Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail... |
ORPHA:100078 |
| Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:1267 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions |
OMIM:602248 |
| Hereditary Folate Malabsorption |
|
Nausea and vomiting, Anorexia, Diarrhea, Decreased circulating antibody level, Gastroesophageal r... |
ORPHA:90045 |
| Celiac Disease, Susceptibility To, 1 |
|
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Lymphoma, Weight loss, Prolonged ... |
OMIM:212750 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Tachycardia, Peptic ulcer, Myelodysplasia, Hematological neoplasm, Abdomi... |
ORPHA:98849 |
| Erythroderma Desquamativum |
|
Diarrhea, Failure to thrive |
ORPHA:314 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension, Failure to thrive |
OMIM:264350 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Failure to thrive, Vomiting, Nasogastric tube feeding |
ORPHA:289504 |
| Alg1-Cdg |
|
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Protein-losing enter... |
ORPHA:79327 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur... |
ORPHA:33226 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... |
OMIM:615710 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin... |
ORPHA:330001 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... |
OMIM:162300 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart failure, Diarrhea |
ORPHA:49827 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Melena, Oral cavity bleeding, Post-partum hemorrhage, Gingival bleeding |
ORPHA:98870 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating antibody level, Decreased circulating total IgM, Reduced antigen-specific T... |
ORPHA:331206 |
| Spontaneous Periodic Hypothermia |
|
Nausea and vomiting, Diarrhea, Arrhythmia |
ORPHA:29822 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Poor appetite, Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhythmia, Nausea |
ORPHA:352447 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
| Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
| Immunodeficiency 22 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... |
OMIM:615758 |
| Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy |
ORPHA:858 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Abdominal pain, Perianal ab... |
OMIM:301074 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... |
OMIM:618213 |
| Radiculoneuropathy, Fatal Neonatal |
|
Chronic diarrhea |
OMIM:266250 |
| Foodborne Botulism |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia |
ORPHA:228371 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve... |
ORPHA:99827 |
| Congenital Disorder Of Glycosylation, Type Ii |
|
Diarrhea, High palate, Gastroesophageal reflux, Decreased body weight, Nasogastric tube feeding |
OMIM:607906 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level |
ORPHA:2902 |
| Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
| Aa Amyloidosis |
|
Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea |
ORPHA:85445 |
| X-Linked Agammaglobulinemia |
|
Malabsorption, Chronic diarrhea, Weight loss, Agammaglobulinemia, Glossoptosis, Neoplasm, Failure... |
ORPHA:47 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Villous atrophy, Malabsorption, Protracted diarrhea, Agammaglobulinemia, Colitis, Failure to thri... |
OMIM:209920 |
| Sepsis In Premature Infants |
|
Abnormal bleeding, Increased circulating interleukin 6 concentration, Tachycardia, Small for gest... |
ORPHA:90051 |
| Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Palpitations, Constipation |
OMIM:133020 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Abdominal pain, Diarrhea, Vomiting, Hypotension, Nausea, Telangiectas... |
ORPHA:79455 |
| Intestinal Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia |
ORPHA:178481 |
| Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Arrhythmia, Myocardial infarction, Abdominal pain |
ORPHA:54057 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level |
ORPHA:275 |
| Glucose-Galactose Malabsorption |
|
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... |
ORPHA:35710 |
| Congenital Disorder Of Glycosylation, Type Iij |
|
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... |
OMIM:613489 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... |
ORPHA:729 |
| Primary Intestinal Lymphangiectasia |
|
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Abdominal pain, C... |
ORPHA:90362 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... |
ORPHA:98878 |
| Hemophilia B |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma |
OMIM:306900 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Increased circulating IgE level, Decreased specific anti-polysaccharide antibody level, Decreased... |
OMIM:606367 |
| Methionine Malabsorption Syndrome |
|
Diarrhea |
OMIM:250900 |
| Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
| Satoyoshi Syndrome |
|
Diarrhea, Malabsorption |
OMIM:600705 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Failure to thrive, Chronic diarrhea, Intestinal inflammation |
OMIM:619858 |
| Subcorneal Pustular Dermatosis |
|
Increased circulating antibody level |
ORPHA:48377 |
| Glucagonoma |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal obstruction, Nausea and vomitin... |
ORPHA:97280 |
| Perrault Syndrome 3 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism |
OMIM:614129 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis... |
ORPHA:2241 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis |
OMIM:613960 |
| Complement Component 4B Deficiency |
|
Chronic diarrhea |
OMIM:614379 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Weight loss, Hypotension, Multiple myeloma, ... |
ORPHA:188 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Increased circulating IgM level, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:616005 |
| Middle Ear Neuroendocrine Tumor |
|
Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor |
ORPHA:100084 |
| Neuroblastoma, Susceptibility To, 1 |
|
Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Hypertension, Neuroblastoma, Failure... |
OMIM:256700 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Nausea and vomiting, Patent ductus arteriosus, Diarrhea, Weight loss, Hypertrophic cardiomyopathy... |
ORPHA:1842 |
| Adiposis Dolorosa |
|
Telangiectasia of the skin, Diarrhea, Xerostomia, Obesity, Constipation, Bruising susceptibility |
ORPHA:36397 |
| Severe Hemophilia A |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... |
ORPHA:169802 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Multiple l... |
ORPHA:1414 |
| Moderate Hemophilia A |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den... |
ORPHA:169805 |
| Yao Syndrome |
|
Pericarditis, Abdominal pain, Diarrhea, Xerostomia, Weight loss |
OMIM:617321 |
| Igg4-Related Submandibular Gland Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449432 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Feeding difficulties, Vomiting, Hypotension, Failure to thrive |
OMIM:177735 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea |
ORPHA:3217 |
| Ovarian Dysgenesis 7 |
|
Hypoplasia of the uterus |
OMIM:618117 |
| Immunodeficiency 23 |
|
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level |
OMIM:615816 |
| Autoimmune Hepatitis |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:2137 |
| Hypogonadotropic Hypogonadism 13 With Or Without Anosmia |
|
Hypoplasia of the uterus, Hypogonadotropic hypogonadism |
OMIM:614842 |
| Ethylmalonic Encephalopathy |
|
Diarrhea, Failure to thrive, Petechiae |
ORPHA:51188 |
| Hydatidiform Mole |
|
Enlarged uterus |
ORPHA:99927 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndrome, Pituitary prolac... |
ORPHA:276152 |
| Meconium Ileus |
|
Chronic diarrhea, Microcolon, Meconium ileus |
OMIM:614665 |
| Carnitine Deficiency, Systemic Primary |
|
Congestive heart failure, Diarrhea, Cardiomyopathy, Mitral regurgitation, Vomiting, Hypertrophic ... |
OMIM:212140 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Increased circulating IgE level, Panhypogammaglobulinemia |
OMIM:602450 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Failure to thrive, Paralytic ileus, Melena, P... |
OMIM:276700 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... |
OMIM:614837 |
| Simple Cryoglobulinemia |
|
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Increased ... |
ORPHA:91139 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Myocardial infarction, Abdominal pain, Intestinal perforation, Diarrhea, Peritonitis, Rectal prol... |
ORPHA:90038 |
| Lissencephaly, X-Linked, 2 |
|
Feeding difficulties in infancy, Diarrhea, High palate |
OMIM:300215 |
| Retinal Dystrophy And Microvillus Inclusion Disease |
|
Chronic diarrhea |
OMIM:619446 |
| Lassa Fever |
|
Abnormal bleeding, Nausea and vomiting, Shock, Abdominal pain, Diarrhea, Increased circulating Ig... |
ORPHA:99824 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Increased circulating IgG level, Increased circulating IgA level |
OMIM:615934 |
| Papa Syndrome |
|
Increased circulating antibody level |
ORPHA:69126 |
| Hyperprolinemia Type 2 |
|
Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia |
ORPHA:79101 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... |
ORPHA:679 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:275350 |
| Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Streak ovary |
OMIM:612310 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Abnormal circulating IgG level |
OMIM:226990 |
| Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges... |
ORPHA:727 |
| Intellectual Developmental Disorder, Autosomal Dominant 51 |
|
Chronic diarrhea, Feeding difficulties, Chronic constipation, Failure to thrive, Poor suck |
OMIM:617788 |
| Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Intracranial hemorrhage, Oral cavity bleeding, ... |
ORPHA:324636 |
| Ovarian Dysgenesis 5 |
|
Hypoplasia of the uterus |
OMIM:617690 |
| Shigellosis |
|
Failure to thrive in infancy, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peri... |
ORPHA:810 |
| Alg8-Cdg |
|
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... |
ORPHA:79325 |
| Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619203 |
| Necrotizing Enterocolitis |
|
Shock, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, V... |
ORPHA:391673 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Anorexia, Myocardial infarction, Malabsorption, Abdomi... |
ORPHA:3452 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Intestinal bleeding, Hemangioma, Volvulus, Intussusception, Cerebellar medullobl... |
OMIM:112200 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Increased circulating IgE level |
OMIM:304790 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... |
OMIM:301220 |
| Rift Valley Fever |
|
Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Increased circulating IgG l... |
ORPHA:319251 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
| Cog4-Cdg |
|
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... |
ORPHA:263501 |
| Galactosemia I |
|
Diarrhea, Failure to thrive, Vomiting, Decreased liver function |
OMIM:230400 |
| Inhalational Botulism |
|
Nausea and vomiting, Diarrhea, Xerostomia, Constipation |
ORPHA:254504 |
| Mucoepithelial Dysplasia, Hereditary |
|
Melena, Chronic diarrhea, Corneal neovascularization, Furrowed tongue |
OMIM:158310 |
| Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Failure to thrive, Portal hypertension, Diarrhea, Esophageal varix, Vomiti... |
OMIM:278000 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I... |
OMIM:102700 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
| Hermansky-Pudlak Syndrome 2 |
|
Reduced natural killer cell activity, Recurrent pneumonia, Impaired ADP-induced platelet aggregat... |
OMIM:608233 |
| Hereditary Hemorrhagic Telangiectasia |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Conjunctival telangiectasia, Transient ischemi... |
ORPHA:774 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting |
OMIM:142680 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Cachexia, Diarrhea, Vomiting, Decreased liver function, Arrhythmia |
ORPHA:42 |
| Afibrinogenemia, Congenital |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... |
OMIM:202400 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Multiple Myeloma |
|
Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ... |
ORPHA:29073 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Failure to thrive, Chronic dia... |
OMIM:614700 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Increased circulating interleukin 6 concentration, Hypertensive crisis, Abdominal pain, Intestina... |
ORPHA:544482 |
| Immunodeficiency 97 With Autoinflammation |
|
Abdominal pain, Diarrhea, Enterocolitis, Decreased circulating antibody level, Decreased circulat... |
OMIM:619802 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... |
ORPHA:465 |
| Mednik Syndrome |
|
Jejunal atresia, Diarrhea, Volvulus, Microcolon |
OMIM:609313 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Failure to thrive in infancy, Abdominal pain, Increased circulating IgA level, Diarrhea, Chronic ... |
OMIM:617099 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia |
OMIM:617341 |
| Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Hepatic failure, Failure to ... |
OMIM:615207 |
| Specific Granule Deficiency 2 |
|
Intractable diarrhea, Failure to thrive, Myelodysplasia |
OMIM:617475 |
| Immunodeficiency 40 |
|
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula |
OMIM:616433 |
| Encephalopathy, Ethylmalonic |
|
Failure to thrive, Chronic diarrhea, Petechiae, Feeding difficulties |
OMIM:602473 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Chronic diarrhea, Reduced systolic function, Failure to thrive in infancy |
OMIM:618805 |
| Bile Acid Malabsorption, Primary, 2 |
|
Chronic diarrhea, Steatorrhea |
OMIM:619481 |
| Glycogen Storage Disease Ixb |
|
Diarrhea |
OMIM:261750 |
| 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 |
| Hereditary Angioedema Type 1 |
|
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Hypotensio... |
ORPHA:100050 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Diarrhea, Malabsorption |
OMIM:602347 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Failure to thrive, Chronic diarrhea, Bruising susceptibility, Bleeding requiring red cell transfu... |
OMIM:619484 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Diarrhea, Gastritis |
ORPHA:2575 |
| Caroli Syndrome |
|
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage... |
ORPHA:480520 |
| Pyoderma Gangrenosum |
|
Increased circulating antibody level |
ORPHA:48104 |
| Bronchial Neuroendocrine Tumor |
|
Tricuspid regurgitation, Poor appetite, Anorexia, Bowel urgency, Right ventricular failure, Pulmo... |
ORPHA:97287 |
| Blue Diaper Syndrome |
|
Diarrhea, Increased body weight |
ORPHA:94086 |
| Bernard-Soulier Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... |
ORPHA:274 |
| Late-Onset Isolated Acth Deficiency |
|
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Diarrhea,... |
ORPHA:199299 |
| Angioedema, Hereditary, 1 |
|
Diarrhea, Vomiting, Intestinal edema, Abdominal pain |
OMIM:106100 |
| Immunodeficiency 17 |
|
Chronic diarrhea, Chronic decreased cirulating IgG2, Abnormal intestine morphology, Anoperineal f... |
OMIM:615607 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... |
ORPHA:424016 |
| Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary |
OMIM:619665 |
| Aspergillosis |
|
Increased circulating IgE level |
ORPHA:1163 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphoproliferative disorder, Chronic diarrhea, Lymphoma, Colitis, Stomatitis, Failure to thrive,... |
ORPHA:911 |
| Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Aganglionic megacol... |
ORPHA:653 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Partial IgA deficiency, Lack of T cell function, Decreased circulating total IgM, Decreased lymph... |
ORPHA:35078 |
| Relapsing Fever |
|
Abnormal bleeding, Tachycardia, Epistaxis, Abdominal pain, Diarrhea, Prolonged prothrombin time, ... |
ORPHA:91547 |
| Familial Glucocorticoid Deficiency |
|
Anorexia, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weight loss, Constipa... |
ORPHA:361 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... |
OMIM:301500 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal bleeding, Patent ductus arteriosus, Chronic diarrhea, Decreased specific anti-polysaccha... |
OMIM:614576 |
| Pgm3-Cdg |
|
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... |
ORPHA:443811 |
| Sandifer Syndrome |
|
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... |
ORPHA:71272 |
| B4Galt1-Cdg |
|
Abnormal bleeding, Diarrhea, Small for gestational age |
ORPHA:79332 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level |
OMIM:615508 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Increased circulating IgE level |
ORPHA:2314 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Diarrhea, Failure to thrive, Vomiting |
OMIM:560000 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620040 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Intestinal polyposis, Subcutaneous hemorrhage, Angina pectoris, A... |
ORPHA:109 |
| Classic Galactosemia |
|
Diarrhea, Hepatic failure, Vomiting, Feeding difficulties |
ORPHA:79239 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent infection of the gastrointestinal tract, Diarrhea, Decreased circulating antibody level... |
ORPHA:572 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... |
ORPHA:3261 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Failure to thrive in infancy, Portal hypertension, Diarrhea, Abnormal circulating interferon-gamm... |
ORPHA:79124 |
| Rasmussen Subacute Encephalitis |
|
Decreased circulating total IgA |
ORPHA:1929 |
| Immunodeficiency 58 |
|
Helicobacter pylori infection, Chronic diarrhea, Decreased circulating antibody level, Decreased ... |
OMIM:618131 |
| Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Diarrhea, Abdominal pain |
OMIM:615399 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Gastritis, Duodenal ulcer, B-cell lymphoma, Anorexia, Abdominal pain, Diarrhea, ... |
OMIM:619381 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dilated cardiomyopathy, Arrhythmia, Chronic diarrhea, Nausea |
OMIM:615084 |
| Lysosomal Acid Lipase Deficiency |
|
Nausea and vomiting, Fatal liver failure in infancy, Failure to thrive, Cachexia, Abdominal pain,... |
ORPHA:275761 |
| Graft Versus Host Disease |
|
Tachycardia, Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroe... |
ORPHA:39812 |
| Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se... |
OMIM:619377 |
| Immunodeficiency 7 |
|
Diarrhea, Failure to thrive |
OMIM:615387 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Abnormal EKG, Postural hy... |
ORPHA:85443 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Diarrhea, Weight loss |
ORPHA:411703 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Rectal abscess, Failu... |
OMIM:601495 |
| Mirage Syndrome |
|
Myelodysplasia, Patent ductus arteriosus, Chronic diarrhea, Esophageal stricture, Intracranial he... |
OMIM:617053 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Diarrhea, Recurrent aphthous stomatitis |
OMIM:150550 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Decreased circulating IgA level, Decreased circulating antibody level |
OMIM:606056 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus |
OMIM:601076 |
| Malakoplakia |
|
Abnormal bleeding, Abdominal pain, Diarrhea, Neoplasm of the rectum, Prostate neoplasm, Neoplasm ... |
ORPHA:556 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... |
ORPHA:309031 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility |
ORPHA:230839 |
| Familial Mediterranean Fever |
|
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Myocardial infa... |
ORPHA:342 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Small for gestational age, Malabsorption, Chronic diarrhea, Squamous cell... |
OMIM:601675 |
| Dpm1-Cdg |
|
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy |
ORPHA:79322 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage |
OMIM:263300 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Prolonged QT interval, Feeding difficulties in infancy, Diarrhea, Dilated ... |
ORPHA:71212 |
| Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Vasculitis |
OMIM:601979 |
| Familial Hypoaldosteronism |
|
Nausea and vomiting, Orthostatic hypotension, Diarrhea, Hypovolemia, Feeding difficulties, Hypote... |
ORPHA:427 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Hypertension, Ga... |
OMIM:223900 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Large for gestational age, Diarrhea, Increased body weight, Vomiting |
ORPHA:263455 |
| Houge-Janssens Syndrome 1 |
|
Pyloric stenosis, Chronic diarrhea |
OMIM:616355 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S... |
ORPHA:36426 |
| Cold Agglutinin Disease |
|
Nausea and vomiting, Diarrhea |
ORPHA:56425 |
| Good Syndrome |
|
Decreased circulating antibody level, Diarrhea, Thymoma, Dysphagia |
ORPHA:169105 |
| Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t... |
ORPHA:37 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Villous atrophy, Pericarditis, Failure to thrive, Feeding difficulties in infancy, Diarrhea, Card... |
OMIM:212065 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level |
OMIM:613011 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... |
OMIM:187900 |
| Hypocomplementemic Urticarial Vasculitis |
|
Nausea and vomiting, Abdominal pain, Diarrhea, Lymphoma, Small vessel vasculitis |
ORPHA:36412 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Cardiomyopathy, Vomiti... |
ORPHA:264580 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Increased circulating IgE level |
ORPHA:330015 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:562639 |
| Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... |
ORPHA:90291 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Diarrhea, Arrhythmia, Feeding difficulties |
OMIM:255120 |
| Infantile Systemic Hyalinosis |
|
Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Chronic dia... |
ORPHA:2176 |
| Complement Component 5 Deficiency |
|
Intractable diarrhea |
OMIM:609536 |
| Pancreatoblastoma |
|
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting |
ORPHA:677 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Bone marrow hypocellularity |
ORPHA:101096 |
| Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Atrial fibrillation, Congestive heart failure, Diarrhea, Hypertension, Palpi... |
ORPHA:525731 |
| Acute Intermittent Porphyria |
|
Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperten... |
ORPHA:79276 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Diarrhea, Weight loss, Abdominal pain |
ORPHA:54251 |
| Lujo Hemorrhagic Fever |
|
Shock, Excessive bleeding after a venipuncture, Myocarditis, Odynophagia, Diarrhea, Fulminant hep... |
ORPHA:319213 |
| Alternating Hemiplegia Of Childhood |
|
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio... |
ORPHA:2131 |
| Agammaglobulinemia, X-Linked |
|
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased circula... |
OMIM:300755 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... |
ORPHA:64743 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia |
OMIM:226730 |
| Shwachman-Diamond Syndrome 2 |
|
Diarrhea, Prolonged prothrombin time, High palate, Steatorrhea, Failure to thrive, Exocrine pancr... |
OMIM:617941 |
| Satoyoshi Syndrome |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... |
ORPHA:3130 |
| Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Asymmetric septal hypertrophy, Dysphagia |
OMIM:252930 |
| 19P13.13 Microdeletion Syndrome |
|
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... |
ORPHA:357001 |
| Hermansky-Pudlak Syndrome |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Malabsorption, Abdominal pai... |
ORPHA:79430 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to anti-CD3, Part... |
OMIM:618986 |
| Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Myelodysplasia, Diarrhea, Lymphoma, Functional abnormality of the gast... |
ORPHA:221016 |
| Immunodeficiency 9 |
|
Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis |
OMIM:612782 |
| Smith-Kingsmore Syndrome |
|
Decreased circulating IgA level |
OMIM:616638 |
| Rothmund-Thomson Syndrome Type 1 |
|
Small for gestational age, Myelodysplasia, Diarrhea, Functional abnormality of the gastrointestin... |
ORPHA:221008 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia, Failure to thrive |
OMIM:610768 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level, Decreased circulating tota... |
ORPHA:508533 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Gastrointestinal infarctions, Petechiae,... |
ORPHA:91138 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:612301 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Oropharyngeal squamous cell carcinoma, Congestive heart failure, Diarrhea, Esoph... |
ORPHA:391487 |
| Immunodeficiency 59 And Hypoglycemia |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:233600 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Diarrhea, Malnutrition, Fat malabsorption, Decreased body weight |
ORPHA:96180 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Diarrhea, Portal hypertension |
OMIM:619849 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Ileal atresia, Abdominal distention, Patent ductus arteriosus, Peritonitis, Bidirectional shunt, ... |
OMIM:619351 |
| Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Large for gestational age, Pyloric ste... |
ORPHA:363705 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Hypotension |
OMIM:608643 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Anal stenosis, Glioma, Dysgammaglobulinemia, Rhabdomyosarcoma, Diarr... |
OMIM:251260 |
| Pediatric Systemic Lupus Erythematosus |
|
Abnormality of the gastrointestinal tract, Abdominal pain, Raynaud phenomenon, Abdominal distenti... |
ORPHA:93552 |
| Legionnaires Disease |
|
Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hypotension, ... |
ORPHA:549 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Aganglionic megacolon, Abdominal pain, Ileus, Constipation, Arrhythmia, Microcolon |
ORPHA:163746 |
| Tick-Borne Encephalitis |
|
Increased circulating IgG level, Increased circulating IgM level, Abnormality of serum cytokine l... |
ORPHA:297 |
| Cholera |
|
Tachycardia, Achlorhydria, Abdominal pain, Diarrhea, Hypovolemic shock, Vomiting, Abdominal cramp... |
ORPHA:173 |
| Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Intermittent diarrhea, Failure to thrive, Pulmonary hemorrhage |
OMIM:619644 |
| Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Abdominal pain,... |
ORPHA:90068 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:607143 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Diarrhea, Hepatocellular adenoma, Increased body weight, Vomiting, Hepatocellular carcinoma, Nausea |
ORPHA:79240 |
| Hyper-Igd Syndrome |
|
Increased circulating IgA level, Abdominal pain, Diarrhea, Chronic diarrhea, Vomiting, Renal angi... |
OMIM:260920 |
| Mucopolysaccharidosis, Type Iiib |
|
Diarrhea, Asymmetric septal hypertrophy |
OMIM:252920 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Diarrhea, Feeding difficulties, High palate, Constipation, Intermittent diarrhea, Failure to thrive |
OMIM:618050 |
| Igg4-Related Thyroid Disease |
|
Increased circulating IgG4 level |
ORPHA:64744 |
| Immunodeficiency 31C |
|
Villous atrophy, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy... |
OMIM:614162 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Diarrhea, Constipation |
OMIM:608654 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom... |
OMIM:105210 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Reduced natural killer cell activity |
OMIM:603553 |
| Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
| Melas |
|
Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Cardiac conduction abnormality, Di... |
ORPHA:550 |
| Hereditary Fructose Intolerance |
|
Abdominal pain, Abdominal distention, Diarrhea, Constipation, Vomiting, Chronic hepatic failure, ... |
ORPHA:469 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexia, Anorectal anomaly, Chronic di... |
ORPHA:647 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
| Omenn Syndrome |
|
Failure to thrive, Chronic diarrhea, Lymphoma |
ORPHA:39041 |
| Mogs-Cdg |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:79330 |
| Mucopolysaccharidosis, Type Iiia |
|
Diarrhea, Asymmetric septal hypertrophy |
OMIM:252900 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure |
OMIM:619431 |
| Familial Mediterranean Fever |
|
Pericarditis, Abdominal pain, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic constipatio... |
OMIM:249100 |
| Young-Onset Parkinson Disease |
|
Diarrhea, Constipation, Nausea, Gastroparesis |
ORPHA:2828 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Portal hypertension, Gastrostomy tube feeding in infancy, Feeding d... |
OMIM:613385 |
| Acute Radiation Syndrome |
|
Abnormal bleeding, Diarrhea, Telangiectasia, Vomiting, Hypotension |
ORPHA:454831 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating antibody level,... |
ORPHA:221139 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Failure to thrive, Intestinal obstruction, Chronic diarrhea, Panhypogammaglobulinemia |
OMIM:600802 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, High palate, Constip... |
ORPHA:93932 |
| Reactive Arthritis |
|
Aortic regurgitation, Pericarditis, Abdominal pain, Diarrhea, Weight loss, Inflammation of the la... |
ORPHA:29207 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... |
ORPHA:93672 |
| Paroxysmal Cold Hemoglobinuria |
|
Nausea and vomiting, Diarrhea |
ORPHA:90035 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Incr... |
ORPHA:37042 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Diarrhea, Malabsorption |
OMIM:240300 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content |
OMIM:214700 |
| Addison Disease |
|
Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Diarrhea,... |
ORPHA:85138 |
| Rothmund-Thomson Syndrome |
|
Telangiectasia of the skin, Small for gestational age, Myelodysplasia, Nasogastric tube feeding i... |
ORPHA:2909 |
| Sapho Syndrome |
|
Neoplasm of the skeletal system, Malabsorption, Abdominal pain, Chronic diarrhea, Vasculitis, Inf... |
ORPHA:793 |
| Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary |
OMIM:615300 |
| Syndromic Diarrhea |
|
Aortic regurgitation, Villous atrophy, Gastritis, Hepatoblastoma, Small for gestational age, Pate... |
ORPHA:84064 |
| Mevalonic Aciduria |
|
Failure to thrive in infancy, Increased circulating IgD level, Diarrhea, Vomiting, Failure to thrive |
OMIM:610377 |
| Selective Igm Deficiency |
|
Non-Hodgkin lymphoma, Raynaud phenomenon, Chronic diarrhea, Paraproteinemia, Decreased circulatin... |
ORPHA:331235 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Intestinal obstruction, Pericarditis, Abdominal pain, Diarrhea, Peritonitis, Vasculitis, Constipa... |
ORPHA:32960 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Beta-Ketothiolase Deficiency |
|
Anorexia, Diarrhea, Weight loss, Hypertension, Vomiting, Hypotension |
ORPHA:134 |
| Citrullinemia Type Ii |
|
Diarrhea, Vomiting, Decreased body mass index, Hepatocellular carcinoma |
ORPHA:247585 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Feeding difficulties in infancy, Diarrhea, Dilated cardiomyopathy, Narrow palate, High palate, Vo... |
OMIM:608836 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity |
OMIM:301078 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Feeding difficulties in infancy, Overweight, Chronic diarrhea, Chronic constipation, Gastroesopha... |
ORPHA:500055 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina |
OMIM:146255 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Failure to thrive, Oral leukoplakia |
OMIM:613989 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal bleeding, Failure to thrive, Epistaxis, Diarrhea, Prolonged bleeding following procedure... |
ORPHA:79259 |
| Immunodeficiency 47 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:300972 |
| Insulin-Resistance Syndrome Type B |
|
Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas... |
ORPHA:2298 |
| Yellow Fever |
|
Abnormal bleeding, Shock, Increased circulating interleukin 6 concentration, Supraventricular arr... |
ORPHA:99829 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Diarrhea, Failure to thrive, Poor appetite |
OMIM:201100 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... |
ORPHA:537 |
| Marburg Hemorrhagic Fever |
|
Anorexia, Odynophagia, Bloody diarrhea, Vomiting, Internal hemorrhage, Nausea, Abnormal bleeding,... |
ORPHA:99826 |
| Mucopolysaccharidosis, Type Ii |
|
Macroglossia, Diarrhea, Intestinal pseudo-obstruction, Congestive heart failure |
OMIM:309900 |
| Serotonin Syndrome |
|
Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea |
ORPHA:43116 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Malabsorption |
ORPHA:83471 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... |
OMIM:192315 |
| Igg4-Related Pachymeningitis |
|
Complement deficiency, Increased circulating IgG4 level |
ORPHA:449427 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... |
OMIM:177850 |
| Müllerian Aplasia And Hyperandrogenism |
|
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary |
ORPHA:247768 |
| Cystic Fibrosis |
|
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Steatorrhea, Failure to thrive, Exocrine pancre... |
OMIM:219700 |
| Acute Adrenal Insufficiency |
|
Nausea and vomiting, Orthostatic hypotension, Myocardial infarction, Abdominal pain, Anorexia, Di... |
ORPHA:95409 |
| Trichinellosis |
|
Increased circulating IgE level |
ORPHA:863 |
| 46,Xy Sex Reversal 4 |
|
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... |
OMIM:154230 |
| Developmental And Epileptic Encephalopathy 50 |
|
Diarrhea, Failure to thrive, Dysphagia |
OMIM:616457 |
| Idiopathic Hypereosinophilic Syndrome |
|
Transient ischemic attack, Myelodysplasia, Malabsorption, Pulmonary embolism, Feeding difficultie... |
ORPHA:3260 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Abdominal pain, Myocarditis, Diarrhea, Peritonitis, Capillary leak, Vomiting,... |
ORPHA:36234 |
| Colchicine Poisoning |
|
Congestive heart failure, Diarrhea, Myocarditis, Hypovolemia, Vomiting, Hypotension, Cardiogenic ... |
ORPHA:31824 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros... |
ORPHA:809 |
| Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, High-output congestive heart failure, Diarrhea, Dilated cardiomyopa... |
ORPHA:231226 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Anorexia, Reye syndrome-like episodes, Diarrhea, Dilated cardiomyopathy, Weight l... |
ORPHA:20 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... |
OMIM:202010 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
| Avian Influenza |
|
Congestive heart failure, Diarrhea, Vomiting, Abdominal pain |
ORPHA:454836 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiting |
OMIM:618321 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Intestinal malrotation, Abdominal distention, Gastrointestinal atresia, Bloody diarrhea, Intestin... |
ORPHA:436252 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diarrhea, Vomiting |
ORPHA:3240 |
| Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Failure to thrive, Small for gestational age, Anorexia, Malabsorption, Chronic d... |
OMIM:557000 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi... |
ORPHA:974 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Diarrhea, Small for gestational age, Weight loss |
ORPHA:424 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Reye syndrome-like episodes, Diarrhea, Tachycardia, Vomiting |
ORPHA:348 |
| Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Dilate... |
OMIM:619573 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Tricuspid regurgitation, Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomitin... |
OMIM:620233 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... |
ORPHA:432 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Chronic diarrhea, Chronic decreased circulating IgG1 |
OMIM:300953 |
| Igg4-Related Kidney Disease |
|
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... |
ORPHA:449395 |
| Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Failure to thrive, Decreased circulating IgG2 level, Chronic diarrhe... |
OMIM:208900 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Failure to thrive, Reye syndrome-like episodes, Diarrhea, Abdominal disten... |
OMIM:256810 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Pancreatoblastoma, Pituitary co... |
ORPHA:99889 |
| Pachydermoperiostosis |
|
Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption, Neoplasm of the lung, Neoplasm of the skin |
ORPHA:2796 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... |
OMIM:256040 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Telangiectasi... |
ORPHA:420741 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Diarrhea, Syncope, Vomiting, Orthostatic syncope |
ORPHA:230 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... |
ORPHA:3463 |
| Lysinuric Protein Intolerance |
|
Protein avoidance, Diarrhea, Malnutrition, Truncal obesity, Vomiting, Failure to thrive, Nausea, ... |
OMIM:222700 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Abdominal distention, Microcolon |
OMIM:619362 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Restrictive cardiomyopathy, Diarrhea |
OMIM:619313 |
| Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Sudden cardiac death, Chronic diarrhea, Dilated cardiomyopathy, Cleft palate, Prolon... |
OMIM:614921 |
| Beta-Thalassemia Major |
|
Failure to thrive in infancy, High-output congestive heart failure, Diarrhea, Dilated cardiomyopa... |
ORPHA:231214 |
| Cerebrotendinous Xanthomatosis |
|
Pseudobulbar paralysis, Myocardial infarction, Angina pectoris, Diarrhea |
OMIM:213700 |
| Steinert Myotonic Dystrophy |
|
Brain neoplasm, Intestinal pseudo-obstruction, Prolonged QRS complex, Oral-pharyngeal dysphagia, ... |
ORPHA:273 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Increased circulating IgM level, Increased circulating IgG4 level, Increased circulating IgA level |
ORPHA:79078 |
| Dubowitz Syndrome |
|
Feeding difficulties in infancy, Velopharyngeal insufficiency, Chronic diarrhea, Submucous cleft ... |
OMIM:223370 |
| Plague |
|
Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, B... |
ORPHA:707 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:210900 |
| Familial Gestational Hyperthyroidism |
|
Diarrhea, Weight loss |
ORPHA:99819 |
| Mucopolysaccharidosis, Type Iiid |
|
Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgitation, Tube feeding |
OMIM:252940 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... |
OMIM:617062 |
| Biotinidase Deficiency |
|
Feeding difficulties in infancy, Diarrhea, Vomiting |
OMIM:253260 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Defective production of NFKB1-dependent cytokines, Failure to thrive, Chronic diarrhea, Recurrent... |
OMIM:612132 |
| Amed Syndrome, Digenic |
|
Hypoplasia of the uterus |
OMIM:619151 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive in infancy, Poor appetite, Diar... |
ORPHA:247598 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Chronic diarrhea, Feeding difficulties, Dysphagia |
OMIM:620358 |
| Omenn Syndrome |
|
Diarrhea, Failure to thrive |
OMIM:603554 |
| Seckel Syndrome 7 |
|
Hypoplasia of the uterus |
OMIM:614851 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Diarrhea, Hepatic necrosis, Hepatocellular... |
ORPHA:90062 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... |
ORPHA:183675 |
| Immunodeficiency 55 |
|
Diarrhea, Myelodysplasia |
OMIM:617827 |
| Gitelman Syndrome |
|
Neoplasm of the pancreas, Prolonged QT interval, Nausea and vomiting, Abdominal pain, Raynaud phe... |
ORPHA:358 |
| Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh... |
ORPHA:394 |
| Estrogen Resistance |
|
Hypoplasia of the uterus, Polycystic ovaries |
OMIM:615363 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate |
ORPHA:457279 |
| Coccidioidomycosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:228123 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie... |
ORPHA:90796 |
| Dubowitz Syndrome |
|
Anal stenosis, Malabsorption, Rectal prolapse, Submucous cleft hard palate, Chronic diarrhea, Lym... |
ORPHA:235 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Chronic diarrhea |
OMIM:242700 |
| Leukocyte Adhesion Deficiency, Type I |
|
Chronic diarrhea, Rectal abscess |
OMIM:116920 |
| Rat-Bite Fever |
|
Pericarditis, Myocarditis, Diarrhea, Weight loss, Vomiting, Parotitis |
ORPHA:31205 |
| Diamond-Blackfan Anemia 21 |
|
Aortic regurgitation, Chronic diarrhea, Obesity, Osteosarcoma |
OMIM:620072 |
| Japanese Encephalitis |
|
Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Increased circulat... |
ORPHA:79139 |
| Sandhoff Disease |
|
Macroglossia, Orthostatic hypotension, Chronic diarrhea, Episodic abdominal pain |
OMIM:268800 |
| Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
| Trichohepatoneurodevelopmental Syndrome |
|
Patent ductus arteriosus, Chronic diarrhea, Feeding difficulties, Macroglossia, High palate, Gast... |
OMIM:618268 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... |
ORPHA:247691 |
| Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Villous atrophy, Failure to thrive, Small for gestational age, Decreased ci... |
OMIM:222470 |
| Popliteal Pterygium Syndrome |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... |
OMIM:119500 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina |
ORPHA:2237 |
| Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar... |
ORPHA:900 |
| Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
| Igg4-Related Ophthalmic Disease |
|
Increased circulating IgE level, Increased circulating IgG4 level |
ORPHA:449563 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Secretory diarrhea |
OMIM:614441 |
| Cockayne Syndrome Type 1 |
|
Hypertension, Diarrhea, Failure to thrive |
ORPHA:90321 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased circulating total IgM |
OMIM:618162 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hypertension, Diarrhea, Purpura |
OMIM:235400 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Decreased circulating IgA level |
OMIM:613327 |
| Meckel Syndrome 12 |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:616258 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Hypoplasia of the uterus, Vaginal atresia |
OMIM:617914 |
| Deeah Syndrome |
|
Decreased heart rate variability, Malabsorption, Chronic diarrhea, Narrow palate, Chronic constip... |
OMIM:619004 |
| Chronic Graft Versus Host Disease |
|
Anorexia, Abdominal pain, Diarrhea, Esophageal stricture, Xerostomia, Weight loss, Abnormal esoph... |
ORPHA:99921 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Abdominal pain, Congestive hear... |
ORPHA:466677 |
| Behçet Disease |
|
Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Anorexia, M... |
ORPHA:117 |
| Immunoglobulin A Vasculitis |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Gastroint... |
ORPHA:761 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,... |
ORPHA:565 |
| Bloom Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
ORPHA:125 |
| Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Hypovolemia, Vomiting, Failure to thrive |
ORPHA:47159 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea |
ORPHA:294023 |
| Distal Renal Tubular Acidosis |
|
Poor appetite, Diarrhea, Constipation, Vomiting, Failure to thrive |
ORPHA:18 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased heart rate variability, Chronic diarrhea, Chronic constipation, High palate, Decreased ... |
OMIM:619005 |
| Kawasaki Disease |
|
Nausea and vomiting, Pericarditis, Abdominal pain, Congestive heart failure, Diarrhea, Vasculitis... |
ORPHA:2331 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Diarrhea, Panhypogammaglobulinemia |
OMIM:307200 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Diarrhea, Feeding difficulties, Hepatocellular necrosis, Failure... |
OMIM:618278 |
| Glycogen Storage Disease Ia |
|
Abnormal bleeding, Hypertension, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diar... |
OMIM:232200 |
| Alg9-Cdg |
|
Villous atrophy, Tricuspid regurgitation, Diarrhea, Gastroesophageal reflux, Vomiting, Bifid uvula |
ORPHA:79328 |
| Abetalipoproteinemia |
|
Abnormal bleeding, Congestive heart failure, Chronic diarrhea, Prolonged prothrombin time, Vomiti... |
ORPHA:14 |
| Brucellosis |
|
Increased circulating IgG level, Increased circulating IgM level |
ORPHA:1304 |
| Lysinuric Protein Intolerance |
|
Abnormal bleeding, Failure to thrive, Diarrhea, Decreased circulating antibody level, Feeding dif... |
ORPHA:470 |
| Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Hodgkin lymphoma, Ne... |
ORPHA:217253 |
| Microsporidiosis |
|
Anorexia, Abdominal pain, Cachexia, Myocarditis, Peritonitis, Chronic diarrhea, Weight loss, Vomi... |
ORPHA:2552 |
| Farber Disease |
|
Failure to thrive, Hepatic failure, Chronic diarrhea, Feeding difficulties |
ORPHA:333 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Pelvic bone exostoses, Hiatus hernia, Chronic diarrhea, Bladder carcinom... |
OMIM:304150 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Small for gestational age, Protruding tongue, Chronic diarrhea, Narrow palate, Recurrent gastroen... |
ORPHA:99843 |
| Monosomy 18Q |
|
Decreased circulating IgA level |
ORPHA:1600 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Renal neoplasm, Abdominal pain, Retinal hamartoma, Renal angiomyolip... |
ORPHA:538 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia |
ORPHA:3164 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
| Liver Disease, Severe Congenital |
|
Chronic gastritis, Failure to thrive, Abdominal distention, Diarrhea, Peritonitis, Patent ductus ... |
OMIM:619991 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
| Listeriosis |
|
Pericarditis, Abdominal pain, Congestive heart failure, Diarrhea, Peritonitis, Myocarditis, Vomit... |
ORPHA:533 |
| Hurler Syndrome |
|
Angina pectoris, Chronic diarrhea, Feeding difficulties, Macroglossia, Hypertension, Cardiomyopathy |
ORPHA:93473 |
| Ogden Syndrome |
|
Diarrhea, Patent ductus arteriosus, Ventricular tachycardia, Narrow palate, Premature ventricular... |
OMIM:300855 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Hypertensive crisis, Aganglionic megacolon, Intestinal malrotation, ... |
ORPHA:567 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:620005 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Decreased circulating total IgM, Decreased circulating IgA level |
ORPHA:369837 |
| Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... |
ORPHA:284339 |
| Simpson-Golabi-Behmel Syndrome |
|
Increased circulating IgE level |
ORPHA:373 |
| Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus |
OMIM:619879 |
| Leptospirosis |
|
Nausea and vomiting, Pericarditis, First degree atrioventricular block, Anorexia, Abdominal pain,... |
ORPHA:509 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Increased circulating IgG level, Increased circulating antibody level |
ORPHA:91500 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Failure to thrive, Nausea |
OMIM:229600 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Chronic diarrhea, Obesity, Heart murmur, Feeding difficulties, Truncal obesi... |
OMIM:615873 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Secretory diarrhea |
OMIM:167100 |
| Mucopolysaccharidosis Type 3 |
|
Malabsorption, Atrioventricular block, Macroglossia, Reduced left ventricular ejection fraction, ... |
ORPHA:581 |
| Zttk Syndrome |
|
Aortic regurgitation, Feeding difficulties in infancy, Patent ductus arteriosus, Submucous cleft ... |
OMIM:617140 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Intestinal malrotation, Patent ductus arteriosus, Pulmonic stenosis, Colon perforation, Failure t... |
OMIM:600001 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Small for gestational age, Diarrhea, Feeding difficulties, Hypertension,... |
OMIM:606721 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Feeding d... |
ORPHA:731 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
ORPHA:3320 |
| Bartter Syndrome, Type 1, Antenatal |
|
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... |
OMIM:601678 |
| Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Hypoplasia of the uterus |
ORPHA:785 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Intestinal malrotation, Patent ductus arteriosus, Feeding difficulties... |
ORPHA:2255 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, High, narrow palate, Increased circulating IgG level, Gas... |
OMIM:619472 |
| Chikungunya |
|
Abnormal bleeding, Epistaxis, Raynaud phenomenon, Diarrhea, Vomiting, Gingival bleeding, Petechiae |
ORPHA:324625 |
| Pearson Syndrome |
|
Small for gestational age, Cardiac conduction abnormality, Exocrine pancreatic insufficiency, Chr... |
ORPHA:699 |
| Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting, Failur... |
OMIM:241200 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Failure to thrive, Abnormal tongue morphology, Chronic diarrhea, Anoperineal fistula |
ORPHA:158668 |
| Acromesomelic Dysplasia 3 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:609441 |
| Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Abdominal distention, Diarrhea, Xero... |
ORPHA:95455 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat... |
OMIM:613471 |
| Parenteral Nutrition-Associated Cholestasis |
|
Abnormality of cytokine secretion |
ORPHA:567983 |
| Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
| Woodhouse-Sakati Syndrome |
|
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... |
OMIM:241080 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy |
OMIM:309801 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Aplasia of the uterus |
ORPHA:457284 |
| Fanconi Anemia, Complementation Group L |
|
Micropenis, Aplasia of the uterus |
OMIM:614083 |
| Woodhouse-Sakati Syndrome |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Abnormal spermatogenesi... |
ORPHA:3464 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture |
OMIM:225400 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Small for gestational age, Feeding difficulties in infancy, Nasogast... |
ORPHA:508488 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Gastroparesis, Transient ischemic attack, Failure to thrive in infancy, Feeding difficulties in i... |
ORPHA:500150 |
| Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Myocarditis, Diarrhea, Congestive heart failure, Weight loss, Second ... |
ORPHA:3385 |
| Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
| Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... |
OMIM:618280 |
| Renal Cysts And Diabetes Syndrome |
|
Hypospadias, Hypoplasia of the uterus, Bicornuate uterus, Epididymal cyst, Atretic vas deferens |
OMIM:137920 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia of the uterus |
OMIM:274000 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Chronic diarrhea, Heart murmur, Macroglossia, Hypertension, Cardiomyopathy, Arrhythmia |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Chronic diarrhea, Heart murmur, Macroglossia, Hypertension, Cardiomyopathy, Arrhythmia |
ORPHA:217093 |
| Restrictive Dermopathy |
|
Patent ductus arteriosus, Submucous cleft hard palate, Microcolon |
ORPHA:1662 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Decreased circulating total IgM |
ORPHA:83617 |
| Mucopolysaccharidosis Type 2 |
|
Chronic diarrhea, Macroglossia, Hypertension, Cardiomyopathy, Arrhythmia |
ORPHA:580 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... |
OMIM:201750 |
| Cerebrotendinous Xanthomatosis |
|
Chronic diarrhea |
ORPHA:909 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse |
OMIM:130050 |
| Aspartylglucosaminuria |
|
Macroglossia, Diarrhea, Mitral regurgitation |
OMIM:208400 |
| Wolf-Hirschhorn Syndrome |
|
Precocious puberty, Cryptorchidism, Hypospadias, Aplasia of the uterus |
OMIM:194190 |
| Coffin-Siris Syndrome 1 |
|
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus |
OMIM:135900 |
| Hydrolethalus Syndrome 1 |
|
Abnormal vagina morphology, Hypospadias, Bifid uterus |
OMIM:236680 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries |
ORPHA:572333 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
| Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... |
OMIM:107480 |
| Neu-Laxova Syndrome 1 |
|
Cryptorchidism, Bifid uterus |
OMIM:256520 |
| Okamoto Syndrome |
|
Bifid uterus |
ORPHA:2729 |
| Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
| Vascular Ehlers-Danlos Syndrome |
|
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse |
ORPHA:286 |
| Norrie Disease |
|
Cryptorchidism, Uterine rupture |
ORPHA:649 |
| Pallister-Killian Syndrome |
|
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... |
OMIM:601803 |
| Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
