Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
mucin 2
Synonyms:
2010015E03Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Muc2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Muc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Inflammatory Bowel Disease 11
Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain OMIM:191390
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Anemia, Hematochezia, Chr... ORPHA:209964
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C... ORPHA:160148
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy OMIM:277175
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Lactose Intolerance, Adult Type
Flatulence, Diarrhea, Abdominal pain OMIM:223100
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Ficolin 3 Deficiency
Necrotizing enterocolitis, Verrucae OMIM:613860
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Abdominal pain, Malab... ORPHA:2070
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Poor... ORPHA:319218
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemia, Erythema no... OMIM:300635
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... ORPHA:157794
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Chronic diarrhea, Recurrent pneumonia, Decreased circulating total Ig... OMIM:619281
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Intestinal obstruction, N... ORPHA:2869
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Abnormal bleeding, Refractory anemia, Cachexia, Abdominal pain, High... ORPHA:79076
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopeni... OMIM:619164
Linear Iga Dermatosis
Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm ORPHA:46488
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Decreased circu... OMIM:613101
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Myocardial infarction, Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute ... ORPHA:90038
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, ... OMIM:616050
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In... ORPHA:424019
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Immunodeficiency 70
Furuncle, Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche... OMIM:175500
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Abnormality of mitochondrial meta... ORPHA:33355
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
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
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Ul... OMIM:617638
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased serum ir... ORPHA:98870
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasis, Decreased circulating antibody ... OMIM:618108
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes... ORPHA:464321
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Aortic regurgitation, Normocytic anemia, Refractory anemia, Epistaxi... ORPHA:99147
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100080
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Congenital Factor Xiii Deficiency
Post-partum hemorrhage, Inflammation of the large intestine, Delayed onset bleeding, Ecchymosis, ... ORPHA:331
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Elevated circulating C-reactive protein concentration, Microc... OMIM:604416
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Recurrent pneumonia, Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hema... OMIM:617718
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption ORPHA:79301
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 104
Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, T lymphocytopenia, ... OMIM:608971
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Neuroendocrine Neoplasm Of Appendix
Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst... ORPHA:100079
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Intracrani... ORPHA:340
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ... ORPHA:44890
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Failure to thrive, Eczema, Abnormal immunoglobulin level, Feeding difficulties in infancy, Increa... ORPHA:98813
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Diarrhea, Hyperlipidemia, Vomiting, Hypoalbuminemia, Protein-lo... OMIM:615863
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrh... OMIM:175200
Paroxysmal Extreme Pain Disorder
Constipation ORPHA:46348
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... ORPHA:906
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... OMIM:112200
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ... OMIM:209920
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:231200
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of... OMIM:203300
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hypertriglyceridemia, Splenomegaly, Diarrhea, Esophageal varix, Hypercholest... ORPHA:75234
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju... OMIM:614700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic diarrhea, Blo... OMIM:614602
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... OMIM:606528
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Abdominal... ORPHA:480520
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis... OMIM:175100
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Immunodeficiency 40
Rectal fistula, Chronic diarrhea, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia,... OMIM:616433
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain OMIM:222900
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti... ORPHA:3002
Diarrhea 9
Diarrhea OMIM:618168
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Visceral angiomatosis, Cavernous hemangioma, Intestinal bleed... ORPHA:1059
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Congestive heart failure, Di... ORPHA:67
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,... ORPHA:99818
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iro... ORPHA:37042
Rift Valley Fever
Abnormal bleeding, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Retinal hemorrhage, Uveiti... ORPHA:319251
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Acute hepatic failure, Failure to thrive, Elevated... OMIM:276700
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Osteoarthritis, Joint hemorrhage, Persistent blee... OMIM:306900
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Bile Acid Synthesis Defect, Congenital, 4
Giant cell hepatitis, Hematochezia, Prolonged prothrombin time, Fat malabsorption, Hepatic failure OMIM:214950
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania... OMIM:273800
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:90051
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Splenomegaly, Leukocytosis, Lymphadenitis, Chronic diarrhea, Dilated card... OMIM:615895
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Brunner Syndrome
Diarrhea OMIM:300615
Mpi-Cdg
Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,... ORPHA:79319
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, Au... OMIM:616100
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Diarrhea, Hepatitis, Hematochezia, Acholic stools, Prolonged prothrombin time, Stea... OMIM:613812
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... OMIM:158310
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Colitis, Esophageal stenosis, Decreased circulating antibody level OMIM:615190
Coproporphyria, Hereditary
Tachycardia, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:coproporphyrin ... OMIM:121300
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglycer... OMIM:278000
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Pancreatic adenocarcinoma... ORPHA:144
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Protein-losing en... OMIM:619063
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he... ORPHA:98878
Chylomicron Retention Disease
Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrhea, Steatorrhea, Vomiting, Hypo... ORPHA:71
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ... OMIM:613960
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Abnormality of neutrophils ORPHA:111
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... OMIM:619510
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia OMIM:617341
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Immunodeficiency 48
Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid dermatitis, Failur... OMIM:269840
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Pyoderma Gangrenosum
Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye... ORPHA:48104
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg... ORPHA:411696
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Typhoid
Gastrointestinal hemorrhage, Skin rash, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Cons... ORPHA:99745
Moderate Hemophilia A
Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Joint hemorrhage, Prolonged ... ORPHA:169805
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Pulmonary embolism, Abdominal pain, Malabsorption, Diarrhea, Decreased ci... OMIM:226300
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Immunodeficiency 58
Helicobacter pylori infection, Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, ... OMIM:618131
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Vascu... ORPHA:343
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Glomerulonephritis, Spider hemangioma, Abdominal pa... ORPHA:2137
Intussusception
Intussusception OMIM:147710
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Failure to thrive, Hypertriglyceridemia, Vomiting OMIM:614480
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Skin rash, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Bronchie... ORPHA:33110
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Eczema, Abnormality of neutrophils, Malabsorption, Cryptorchid... ORPHA:235
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchi... ORPHA:391487
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Petechiae, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B... OMIM:620133
Cronkhite-Canada Syndrome
Intestinal polyposis, Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Splenomegaly, ... ORPHA:2930
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly... OMIM:614576
Immunodeficiency 92
Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of cl... OMIM:619652
Cystic Fibrosis
Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Bronchiectasis, Recurrent pneumonia, Hepatosple... OMIM:219700
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Maculopapular exanthema, Skin rash, Abdominal pain, Chroni... OMIM:142680
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial ATP synthase complex, Decreas... OMIM:618378
Immunodeficiency 69
Pancytopenia, Skin rash, Increased circulating ferritin concentration, Diarrhea, Splenomegaly, Le... OMIM:618963
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Hypertriglyce... ORPHA:158061
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Weigh... OMIM:209950
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy OMIM:619175
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Abdo... ORPHA:398063
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chro... OMIM:619858
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hematemesis... OMIM:615846
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Malabsorption, Protruding tongue, Diarrhea, Bronchiectasis, Macroglossia, I... OMIM:242860
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl... OMIM:106300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocyt... OMIM:601457
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Pancreatitis, Splenomegaly, Decrea... OMIM:615947
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,... ORPHA:679
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding... ORPHA:465
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Thromb... ORPHA:47
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cholecystitis, Intestina... ORPHA:774
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:600376
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Cryptorchidism, Elevated circulating creatinine concentration, Pa... OMIM:608104
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Malabsorption, Abdominal pain, Pustule, ... ORPHA:793
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth... ORPHA:99867
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Diarrhea, Recurr... ORPHA:277
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Absent cir... OMIM:620282
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Pulmonary embolism, Feeding difficulties in infancy, Intracranial hemorrhage, Coliti... ORPHA:3260
Erythrocytosis, Familial, 1
Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hyperthreoninemia, Abnor... ORPHA:247598
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... OMIM:615558
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Membranous nephropathy, Atopic dermatitis, Colonic eosinophilia OMIM:618999
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem... OMIM:618183
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, High palate OMIM:618010
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Congenital Bile Acid Synthesis Defect Type 4
Hematochezia, Giant cell hepatitis ORPHA:79095
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hyperbilirubinemia, Hiatus hernia ORPHA:101009
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility ORPHA:230839
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Rectal prolapse, Narrow palate, Hypoalbuminemia, Protein-losing enteropathy, Inte... OMIM:235510
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Multiple l... ORPHA:1414
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Anorexia, Abdomi... ORPHA:732
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage OMIM:605735
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Prolonged bleeding following procedure, Inflammation of the large intestine, Periodontitis, Abnor... ORPHA:79259
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Enterokinase Deficiency
Diarrhea OMIM:226200
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Neutropenia, Bronchiectasis, Decreased p... OMIM:619705
Syndromic Diarrhea
Aortic regurgitation, Lymphopenia, Villous atrophy, Gastritis, Hepatoblastoma, Small for gestatio... ORPHA:84064
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Temple Syndrome
Hypertriglyceridemia, Small for gestational age, Overweight, Cryptorchidism, Obesity, Cleft palat... OMIM:616222
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thrombocytopenia, ... OMIM:603552
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Dysphagia ORPHA:99013
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, Increased circu... OMIM:615285
Erythroderma Desquamativum
Diarrhea ORPHA:314
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Vomiting, Hyponatremia, Abdominal pain, Hypovolem... ORPHA:275761
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Neutrophilia, Abdominal pain, Leukocytosis, Increase... ORPHA:98849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Tachycardia, Hypertriglyceridemia, Atrial fibrillation, Elevated circulati... OMIM:613327
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Pneumonia, Anorexia, Eosinophilia, Diarrhea, Recurrent pneumonia, Hepatitis, Erythro... ORPHA:169160
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Vasculitis, Arthritis, Keratoconjun... ORPHA:91138
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97278
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ... ORPHA:64743
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Whipple Disease
Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Malabsorption, Abdominal pain, Myo... ORPHA:3452
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, ... ORPHA:90362
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Gout, Increased LDL cholestero... OMIM:610947
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Pyloric stenosis, Rectal prolapse, Recurrent pneumonia, Feeding difficulties, G... OMIM:613177
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation ORPHA:168829
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Myeloproliferative... ORPHA:79456
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Skin rash, Pneumon... OMIM:300400
Cystic Fibrosis
Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Bronchiectasis, Gastroesophageal reflu... ORPHA:586
Immunodeficiency 15B
Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic ... OMIM:615592
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble... OMIM:187900
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Sudden cardiac dea... OMIM:201475
Enteric Anendocrinosis
Diarrhea, Vomiting, Portal hypertension, Malabsorption ORPHA:83620
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Decreased circulating total IgM, High ... OMIM:614069
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Anorexia, Malabsorption, Congestive heart failur... ORPHA:33226
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic diarrhea, Neutropenia, Decreased circulating antibody leve... OMIM:616740
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Episodic abdom... ORPHA:97282
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Myelodysplasia, Pulmonary embolism, Abdo... ORPHA:729
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Diarrhea 13
Secretory diarrhea, Vomiting OMIM:620357
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Hypertrophic cardiomyopathy, Obesity, Feeding difficulties OMIM:620270
Cold Agglutinin Disease
Nausea and vomiting, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia OMIM:606764
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Abnormal lymph node morphology, Vomiting ORPHA:677
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Secre... OMIM:619573
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level... ORPHA:100924
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Poor appetite... ORPHA:352447
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Decreased activity of mitochondrial complex IV, Feeding difficulties, Weight ... OMIM:612075
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Immunodeficiency, Common Variable, 1
Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia in presence o... OMIM:607594
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Failure to thrive in infancy, Abnormal lymphocyte count, Portal hypertension, Throm... ORPHA:79124
Snakebite Envenomation
Hyponatremia, Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock... ORPHA:449285
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Abdominal pain, Eo... ORPHA:486
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... OMIM:212750
Junctional Epidermolysis Bullosa Inversa
Anemia, Gastrointestinal inflammation ORPHA:79405
Smith-Magenis Syndrome
Hypertriglyceridemia, Velopharyngeal insufficiency, Increased body weight, Constipation, Hypercho... OMIM:182290
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Hepatocellular carcinoma, Fat malabsorptio... OMIM:601847
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis, Pulmonic stenosis ORPHA:96168
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Failure to thrive, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, S... OMIM:607765
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Anteriorly placed anus, Constipation, ... OMIM:239300
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... OMIM:619313
Afibrinogenemia, Congenital
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ... OMIM:202400
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Myositis, Pericarditis, Gastritis, Skin ras... ORPHA:809
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction OMIM:108725
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure ... OMIM:615617
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Epistaxis, ... ORPHA:324636
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Decreased CD4:CD8 ratio, Splenom... OMIM:618495
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasi... OMIM:618523
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Diarrhea, Lymphadenopathy OMIM:240500
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97283
Late-Onset Junctional Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79406
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Neutropenia, Decreased circulating antibod... OMIM:601495
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema,... OMIM:606367
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ... ORPHA:309108
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Dysphagia ORPHA:275872
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Vomiting, Hypoalbuminemia, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Villous atrophy, Malabsorption, Diarrhea, Obesity OMIM:600955
Congenital Disorder Of Glycosylation, Type Ib
Abnormal bleeding, Villous atrophy, Failure to thrive, Diarrhea, Vomiting, Hypoalbuminemia, Prote... OMIM:602579
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Cholestasis, Progressive Familial Intrahepatic, 1
Epistaxis, Conjugated hyperbilirubinemia, Splenomegaly, Diarrhea, Cholelithiasis, Fat malabsorpti... OMIM:211600
Cog7-Cdg
Small for gestational age, Elevated circulating creatine kinase concentration, Diarrhea, Feeding ... ORPHA:79333
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Decreased fumarate hydratase activity, Polycythemia... OMIM:606812
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Decreased bo... ORPHA:247585
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA... OMIM:603909
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decrease... ORPHA:169154
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal large intestine physiology, Hepatocellular ca... ORPHA:171
Chylous Ascites
Neoplasm, Abnormal intestine morphology, Pancreatitis ORPHA:1160
American Trypanosomiasis
Aganglionic megacolon, Skin rash, Abnormal large intestine physiology, Abdominal pain, Congestive... ORPHA:3386
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Diarrhea,... ORPHA:79240
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... OMIM:301056
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... ORPHA:2796
Self-Improving Dystrophic Epidermolysis Bullosa
Anemia, Gastrointestinal inflammation ORPHA:79411
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Abdominal pain, Diarrhea, Decreased activity of mitochondrial complex III, Hyperammonemia, Vomiti... OMIM:620137
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomeg... ORPHA:90041
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Polymicrogy... OMIM:619708
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Tachycardia, Increased circulating interleukin 6 concentration, ... ORPHA:542323
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea OMIM:261750
Fanconi Anemia, Complementation Group O
Cryptorchidism, Rectal atresia, Chromosome breakage, Anal atresia OMIM:613390
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Myocardial infarction, Abdominal pain, Diarrhea, Microangiopathic hemolytic anem... ORPHA:54057
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Constipation, Adrenocorti... ORPHA:97280
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Diarrhea, Recurrent aphthous stomatitis, Lymphadenopathy OMIM:150550
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Decreased proportion of naive T c... ORPHA:83471
Relapsing Fever
Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ... ORPHA:91547
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat... ORPHA:199299
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Cardiomyopathy, Hypoalbuminemia, Pro... ORPHA:79327
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr... OMIM:192315
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Diarrhea, Steatorrhea, Hyperbilirubinemia, Hepatic failure, Failure to thrive OMIM:235555
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Intestinal obstruction, ... OMIM:600802
20Q13.33 Microdeletion Syndrome
Hematochezia ORPHA:261311
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Increased circulating antibo... ORPHA:69126
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy... ORPHA:85443
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Duodenal Atresia
Duodenal atresia OMIM:223400
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Failure to thrive, Decreased proportion of naive T cells, Sk... ORPHA:276
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Pericarditis, Fasciitis, Myositis, Elevated circulating C-reactive protei... ORPHA:32960
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Pyloric stenosis, Gastrointestinal dys... ORPHA:363705
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Smith-Magenis Syndrome
Hypertriglyceridemia, Failure to thrive in infancy, Feeding difficulties in infancy, Obesity, Cle... ORPHA:819
Pseudoxanthoma Elasticum, Forme Fruste
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h... OMIM:177850
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Glycogen Storage Disease Ib
Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Neutropenia, Gout, Xanthelasma, Inflammation o... OMIM:232220
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Cerebral vasculitis, Eczema, Subarachnoid hemorrhage, Eosinophilic infiltration of the esophagus,... OMIM:243700
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Iron deficiency anemia, High palate, Gastroesophageal reflux, Decreased body weight, Na... OMIM:607906
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Eczema, Rectal prolapse, Obesity, Pseudohypoparathyroidism, Feeding difficulties, High palate, Ga... OMIM:617157
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Osteoarthritis,... ORPHA:287
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Leprechaunism
Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Hypokalemia, Hyperaldosteron... ORPHA:508
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio... ORPHA:79430
Satoyoshi Syndrome
Diarrhea, Mildly elevated creatine kinase, Malabsorption OMIM:600705
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... ORPHA:96180
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Cog4-Cdg
Fatal liver failure in infancy, Hypercholesterolemia, Failure to thrive in infancy, Feeding diffi... ORPHA:263501
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Villous atrophy, Osteomy... OMIM:614162
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma... ORPHA:537
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Splenomegaly, Diarrhea, Bile duct proliferation, Increased serum bile acid concent... OMIM:602347
Multiple Endocrine Neoplasia, Type I
Hypercalcemia, Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone c... OMIM:131100
Boutonneuse Fever
Maculopapular exanthema, Skin rash, Abdominal pain, Thrombocytopenia, Diarrhea, Vasculitis, Incre... ORPHA:83313
Mirage Syndrome
Hyponatremia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Hyperkalemia, Patent ductus... OMIM:617053
Congenital Toxoplasmosis
Thrombocytopenia, Diarrhea, Failure to thrive in infancy, Anemia ORPHA:858
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia OMIM:245900
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration OMIM:610717
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Alg8-Cdg
Hyponatremia, Abnormality of the gastrointestinal tract, Small for gestational age, Thrombocytope... ORPHA:79325
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Skin rash, Abnormality of the spleen, Diarrhea, Weight... ORPHA:33276
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Acne, Skin rash, Sudden cardiac death, Angina pectoris, Telangiectas... ORPHA:758
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Sclerosing cholangitis, Inflammation of the large ... ORPHA:562639
Behçet Disease
Myositis, Anorexia, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Abd... ORPHA:117
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Neoplasm of the urethra, Squamous cel... ORPHA:2908
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Capillary leak, Protracted ... OMIM:615758
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Acute Lung Injury
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse ... ORPHA:178320
Adult Acute Respiratory Distress Syndrome
Shock, Increased circulating interleukin 6 concentration, Pneumonia, Vasculitis, Abnormal circula... ORPHA:70578
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly ... OMIM:615710
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abdominal pain, Diarrhea, Encopresis, P... ORPHA:589821
Reactive Arthritis
Aortic regurgitation, Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis,... ORPHA:29207
Visceral Myopathy 1
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... OMIM:155310
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Myositis, Pericarditis, Skin rash, Angina pecto... ORPHA:93672
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated ci... OMIM:308240
Wolfram Syndrome
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast... ORPHA:3463
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Anorexia, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart f... ORPHA:49827
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Abdominal pain, Rayn... ORPHA:93552
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cel