Not currently registered for phenotyping at IMPC

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

Gene Summary

anterior gradient 2
mAG-2,  XAG-2,  Gob-4,  HAG-2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Agr2 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 Agr2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Bloody diarrhea, Anemia, Ulcerative colitis OMIM:619398
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Pelvic Organ Prolapse, Susceptibility To
Bowel incontinence, Rectal prolapse OMIM:176780
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Ménétrier Disease
Hypoproteinemia, Anorexia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa... ORPHA:2494
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Vomiting, Failure to thrive, Hypercholesterolemia, Hypoalbuminem... OMIM:615863
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Rectal prolapse, Stercoral ulcer, Anemia, Inte... ORPHA:209964
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Hyperlipoproteinemia, Type Id
Colitis, Splenomegaly OMIM:615947
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Abnormal intestine morphology, Vomiting, Esophagitis, Duodenitis, Chronic diarrh... OMIM:619079
Inflammatory Bowel Disease 28, Autosomal Recessive
Folliculitis, Pyoderma, Perianal abscess, Crohn's disease, Enterocolitis, Colitis, Hematochezia OMIM:613148
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Rectovaginal fistula, Perianal abscess, Enterocutaneous fistula, Enterocolitis OMIM:612567
Squamous Cell Carcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma, Neoplasm of the live... ORPHA:424019
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... OMIM:193250
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Weight loss, Hernia, Intestinal obstruc... ORPHA:26790
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Hirschsprung Disease
Nausea and vomiting, Failure to thrive in infancy, Aganglionic megacolon, Functional abnormality ... ORPHA:388
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Weight loss, Intestinal obstruction, Crohn's... OMIM:266600
Eosinophilic Gastroenteritis
Hypoalbuminemia, Dysphagia, Leukocytosis, Elevated circulating C-reactive protein concentration, ... ORPHA:2070
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Anemia, Spl... OMIM:616050
Diverticulosis, Small-Intestinal
Duodenal diverticula, Jejunal diverticula, Rheumatoid arthritis, Thyroiditis, Jejunoileal diverti... OMIM:223320
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating polysaccharide concentration, Abdominal distention, Weight loss, Abnormal ci... ORPHA:103910
Chylomicron Retention Disease
Vomiting, Hypocholesterolemia, Failure to thrive, Hypotriglyceridemia, Steatorrhea, Hypoalbuminem... OMIM:246700
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Refractory Celiac Disease
Jejunitis, Hypoproteinemia, Macrocytic anemia, Villous atrophy, Normocytic anemia, Iron deficienc... ORPHA:398063
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Colitis, Perioral eczema, Recurrent aphthous stomatitis, Diarrhea, Recurrent sinusitis OMIM:613960
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Abnormal intestine morphology, Anorexia, Neutropenia, Vomiting, Hypoalbuminemia,... OMIM:600351
Lactose Intolerance, Adult Type
Flatulence, Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Abdom... OMIM:223100
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Hypokalemia, Failure to thrive, Multiple gastric polyps... OMIM:174900
Epilepsy With Bilateral Occipital Calcifications
Celiac disease OMIM:226810
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Peutz-Jeghers Syndrome
Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Neoplasm of the rectum, Esophageal... ORPHA:2869
Burkitt Lymphoma
Nausea and vomiting, Abnormality of the ovary, Abnormality of the spleen, Hyperuricemia, Intestin... ORPHA:543
Congenital Lethal Erythroderma
Failure to thrive, Malabsorption, Hypoalbuminemia ORPHA:1954
Inflammatory Bowel Disease 11
Diarrhea, Inflammation of the large intestine, Abdominal pain, Hematochezia OMIM:191390
Immunodeficiency 76
Lymphadenopathy, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Abnormal intestine morphology, Thrombocytosis, Vomiting, Iron deficiency anemia,... OMIM:226300
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Colitis, Hypoalbuminemia ORPHA:88643
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Volvulus, Intussusception, Intestinal bleeding, Thromboc... OMIM:112200
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Vomiting, Failure to thrive, Abdominal distention, Anemia, Decreased liver funct... OMIM:608104
Oculogastrointestinal Muscular Dystrophy
Cachexia, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophage... ORPHA:1876
Gastrointestinal Stromal Tumor
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm o... ORPHA:44890
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Colitis, Min... OMIM:617006
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Vomiting, Failure to thrive, Hepatic failure, Hypoalbuminemia, Diarrhea, Protein... OMIM:602579
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Constipation... ORPHA:263665
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... OMIM:619281
Desmoid Tumor
Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hemorrhage, Intestinal po... ORPHA:873
Amoebiasis Due To Entamoeba Histolytica
Leukocytosis, Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Acute colitis, ... ORPHA:67
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Gastrointestinal hemorrhage, Hepatosplenomegaly, Male infertility, Diarrhea, Abdomi... ORPHA:85450
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Acne, Splenomegaly, Recurrent skin ... OMIM:300635
Alpha-Heavy Chain Disease
Abnormality of the small intestine, Anemia, Malabsorption, Splenomegaly, Premature ovarian insuff... ORPHA:100025
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Nausea and vomiting, Esophageal neoplasm, Abnormal larg... ORPHA:2198
Immunodeficiency, Common Variable, 11
Crohn's disease, Inflammation of the large intestine, Mucoid diarrhea OMIM:615767
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Abdominal distentio... OMIM:256300
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Aganglionic megacolon, Intestinal obstruction, Abdominal pain, Con... ORPHA:897
Vomiting, Failure to thrive, Decreased liver function, Gastrointestinal hemorrhage, Hypoalbuminem... ORPHA:79319
Budd-Chiari Syndrome
Gastrointestinal infarctions, Esophageal varix, Peritonitis, Weight loss, Malabsorption, Splenome... ORPHA:131
Colorectal polyposis, Functional intestinal obstruction, Episodic abdominal pain, Abnormal rectum... ORPHA:251992
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Congenital Short Bowel Syndrome
Vomiting, Failure to thrive, Congenital shortened small intestine, Abnormal peristalsis, Intestin... OMIM:615237
Macroglossia, Feeding difficulties, Failure to thrive, Hypoalbuminemia, Decreased LDL cholesterol... ORPHA:79320
Autoinflammatory Syndrome, Familial, Behcet-Like
Colitis, Anterior uveitis, Lymphopenia, Skin rash, Ileal ulcer, Thrombocytopenia, Hemolytic anemia OMIM:616744
Infantile Myofibromatosis
Hypercalcemia, Abnormal intestine morphology, Chondrocalcinosis, Neoplasm of the pancreas, Intest... ORPHA:2591
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cystic acne, Sterile arthritis, Sterile abscess, Acne, Arthritis, Hepatosplenomeg... OMIM:604416
Diarrhea 9
Failure to thrive, Diarrhea, Villous atrophy OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital
Failure to thrive, Villous atrophy, Intractable diarrhea, Small for gestational age OMIM:613217
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Mucocutaneous Ulceration, Chronic
Ileitis OMIM:618287
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... ORPHA:103907
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia, Abdominal pain, Abnormal gastric mucosa morphology ORPHA:234
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy OMIM:251850
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Chronic diarrhea, Steatorrhea, Increased fecal bile acid, Fat malabsorption OMIM:613291
Radiation Proctitis
Tenesmus, Abnormality of gastrointestinal vasculature, Abnormality of connective tissue, Intestin... ORPHA:70475
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Bloody diarrhea, Rectal prolapse, Schistocytosis, Microangiopathic hemolytic anemia... ORPHA:90038
Chronic diarrhea, Decreased liver function, Abnormality of the gastrointestinal tract, Hypoalbumi... ORPHA:79327
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Immunodeficiency 70
Celiac disease, Achalasia, Furuncle, Colitis, Recurrent sinusitis OMIM:618969
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis OMIM:615083
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Hyperbilirubinemia, Gastric varix... ORPHA:64743
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Colitis, Recurrent sinusitis OMIM:613101
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the ... ORPHA:90362
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Weight loss, Intestinal obstruction, Gastrointestinal h... ORPHA:97286
Adenocarcinoma Of The Anal Canal
Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal stenosi... ORPHA:424016
Igg4-Related Aortitis
Weight loss, Intestinal obstruction, Hypereosinophilia, Elevated circulating C-reactive protein c... ORPHA:449400
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Juvenile Polyposis Of Infancy
High, narrow palate, Cachexia, Rectal prolapse, Adenomatous colonic polyposis, Refractory anemia,... ORPHA:79076
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Failure to ... ORPHA:95427
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Decreased prealbumin level, Celiac disease, Increased stool alpha1-antitrypsin c... ORPHA:90363
Immunodeficiency 60 And Autoimmunity
Bronchiectasis, Splenomegaly, Chronic diarrhea, Crohn's disease, Colitis, Ulcerative colitis OMIM:618394
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Gastrostomy tube feeding in infancy, Atypical scarring of skin, Anal fissure, Malnutrition, Decre... ORPHA:89842
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss, Abdominal distention, Ileus, Abdominal pain ORPHA:168811
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Ovarian neoplasm, Cachexia, Abdominal distention, Weight loss, Neoplasm of t... ORPHA:83469
Neoplasm of the small intestine, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... ORPHA:97283
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Primary hyper... ORPHA:97278
Jejunal Atresia
Jejunal atresia OMIM:243600
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Gastritis, Reduced natura... OMIM:618108
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Neutropenia, Failure to thrive, Coombs-positive hemolytic anemia, Anemia, Chroni... OMIM:304790
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis, Bone marrow hypocellularity OMIM:615190
Stomatitis, Normochromic anemia, Gastrointestinal hemorrhage, Primary hyperparathyroidism, Steato... ORPHA:97280
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Esophagitis, Eosinophilic, 1
Eosinophilia, Esophagitis, Dysphagia, Vomiting OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia, Esophagitis, Dysphagia, Vomiting OMIM:613412
Castleman Disease
Nausea and vomiting, Abdominal distention, Weight loss, Anemia, Intestinal obstruction, Abnormali... ORPHA:160
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Hype... ORPHA:913
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Gastrointestinal Stromal Tumor
Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor, Constipation OMIM:606764
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Feeding difficulties in infancy, Increased mean platelet volume, Vomiting, Inte... OMIM:300048
Atresia Of Small Intestine
Vomiting, Failure to thrive, Feeding difficulties, Abdominal distention, Jejunal atresia, Intesti... ORPHA:1201
Congenital Hypothyroidism
Abnormality of reproductive system physiology, Feeding difficulties in infancy, Goiter, Macroglos... ORPHA:442
Immunodeficiency 17
Abnormal intestine morphology, Failure to thrive, Decreased proportion of CD8-positive T cells, R... OMIM:615607
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Primary hyper... ORPHA:97261
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Abnormal intestine morphology, Decreased prealbumin level, Neutropenia, Neutropenia in presence o... ORPHA:37042
Galloway-Mowat Syndrome 6
Decreased body weight, Decreased response to growth hormone stimulation test, High palate, Hypoal... OMIM:618347
Immunodeficiency 27A
Leukocytosis, Thrombocytosis, Anorexia, Weight loss, Anemia, Splenomegaly, Hepatosplenomegaly, Hy... OMIM:209950
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Absence of subcutaneous fat, Malabsorption, Chronic diarrhea, Intestin... OMIM:601675
Anal Sphincter Myopathy, Internal
Abnormality of the anus, Constipation OMIM:105565
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, ... ORPHA:343
Peutz-Jeghers Syndrome
Rectal prolapse, Iron deficiency anemia, Gastrointestinal carcinoma, Intussusception, Intestinal ... OMIM:175200
Trichohepatoenteric Syndrome 2
Diarrhea, Hepatitis, Villous atrophy, Colitis OMIM:614602
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Chronic diarrhea, ... OMIM:600802
Anus, Imperforate
Anal atresia OMIM:207500
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Anorexia, Vomiting, Hypokalemia, Xerostomia, Gastrointestinal carcinoma, Anemia, Malabs... OMIM:175500
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Eczema, Inflammation of the large intestine, Dysphagia, Colitis, Arthritis, Chronic gastritis, Di... OMIM:608809
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Abdominal distention, Microvillus ... OMIM:619445
Immunodeficiency 31C
Abnormal intestine morphology, Villous atrophy, Lymphopenia, Diarrhea, Autoimmune hemolytic anemia OMIM:614162
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic polyposis, Colon ... OMIM:610069
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Dysphagia, Elevated circulating creatine kinase concentration, Feeding difficul... OMIM:613327
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Infectious encephalitis, Villous atrophy, Protracted diarrhea, Malabsorption, Chroni... OMIM:209920
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Adenomatous colonic polyposis, Biliary tract neoplasm, Pa... ORPHA:157798
Hypercholanemia, Familial 1
Failure to thrive, Increased serum bile acid concentration, Steatorrhea, Fat malabsorption OMIM:607748
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Vascular Hyalinosis
Chorioretinal scar, Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Atopic dermatitis, Lactose intolerance, Feeding difficulties in infancy, Allergic rhinitis, Dysph... ORPHA:411696
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Hypogonadotropic hypogonadism, Malabsorption, Primary amenorrhea, Obesity, Diarrhea OMIM:600955
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting, Failure to thrive OMIM:179010
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia, Esophageal varix, Failure to thrive, Decreased liver function, Hepatosplenomegal... ORPHA:367
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Jejunoileal ulceration, Fat malabsorption OMIM:221400
Sanjad-Sakati Syndrome
Hypoparathyroidism, Congenital hypoparathyroidism, Abnormal dental enamel morphology, Intestinal ... ORPHA:2323
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Hyperglycinemia OMIM:619063
Focal Segmental Glomerulosclerosis 1
Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Dysphagia, Weight loss, Malabsorption, Intestinal obstruction, Eosinophilia,... ORPHA:183
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Abdominal distention, Weight loss, Diarrh... ORPHA:160148
Pancreatic Lipase Deficiency
Hypolipidemia, Steatorrhea, Fat malabsorption OMIM:614338
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy, Microcytic anemia, Hypoalbuminemia OMIM:618805
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Aganglionic megacolon, Cachexia, Ileus, Constipation ORPHA:52503
Al Amyloidosis
Abnormal salivary gland morphology, Hypoalbuminemia, Dysphagia, Macroglossia, Xerostomia, Abdomin... ORPHA:85443
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Pneumonia, Stomatitis, Lymphadenitis, Lymphade... ORPHA:911
Anorexia, Leukopenia, Weight loss, Anemia, Splenomegaly, Abnormal macrophage morphology, Hypoalbu... ORPHA:507
Waardenburg Syndrome
Intestinal obstruction, Aganglionic megacolon, Aplasia/Hypoplasia of the colon, Abnormality of th... ORPHA:3440
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration, Vomiting, Peritonitis, Fasci... ORPHA:32960
Combined Oxidative Phosphorylation Deficiency 7
Failure to thrive, Paralytic ileus OMIM:613559
Citrullinemia Type Ii
Hypoproteinemia, Decreased HDL cholesterol concentration, Vomiting, Hyperlipidemia, Hepatocellula... ORPHA:247585
Tenesmus, Abdominal pain, Abnormal blood ion concentration, Hyponatremia, Bloody mucoid diarrhea,... ORPHA:810
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... ORPHA:247798
Reticular Dysgenesis
Leukopenia, Failure to thrive, Weight loss, Anemia, Malabsorption, Diarrhea, Abnormality of neutr... ORPHA:33355
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Familial Hemophagocytic Lymphohistiocytosis
Neutropenia, Anemia, Splenomegaly, Decreased liver function, Increased circulating ferritin conce... ORPHA:540
Reynolds Syndrome
Xerostomia, Dysphagia, Gastroesophageal reflux, Abnormal gastric mucosa morphology ORPHA:779
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Ne... ORPHA:157794
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Lipodyst... OMIM:616000
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Eczema, Lymphadenitis, Lymphadenopathy, Splenomegaly, Crohn's disease, Perianal abscess, Hepatosp... OMIM:618935
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Villous atrophy, Pneumonia, Bronchiectasis, Lymphadenopathy,... OMIM:614700
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypergalactosemia, Hyperammonemia, Gastrointestinal hemorrhage, Hyperthreoninemia, Hepatosplenome... ORPHA:247598
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Failure to thrive, Abdominal distention, Weight loss, Malabsorption, A... ORPHA:92050
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis, Inflammation of the large intestine OMIM:617718
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Colonic eosinophilia, Hepatosplenomegaly, Eosinophilic... OMIM:618999
Junctional Epidermolysis Bullosa Inversa
Gastrointestinal inflammation ORPHA:79405
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemia, Secretory diar... OMIM:618183
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism ORPHA:281090
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Hepatic failure, Hypoalbuminemia OMIM:617156
Cyclic Neutropenia
Sinusitis, Peritonitis, Lymphadenopathy, Periodontitis, Perianal abscess, Otitis media, Recurrent... ORPHA:2686
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction... OMIM:243180
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Agammaglobulinemia 1, Autosomal Recessive
Sinusitis, Pneumonia, Bronchiectasis, Recurrent otitis media, Crohn's disease, Recurrent pneumoni... OMIM:601495
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pustule, Myositis, Lymphadenopathy, Acne, Arthritis, Increased inflammatory response, Crohn's dis... ORPHA:69126
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach OMIM:114500
Rajab Interstitial Lung Disease With Brain Calcifications 2
Feeding difficulties in infancy, Hepatosplenomegaly, Microcytic anemia, Hypertriglyceridemia, Hyp... OMIM:619013
Epidermolysis Bullosa, Junctional, Herlitz Type
Pyloric stenosis, Atrophic scars, Enamel hypoplasia, Failure to thrive OMIM:226700
Familial Mediterranean Fever
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Malabsorption, Splenomegaly, Inte... ORPHA:342
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Porphyria Variegata
Hyponatremia, Scarring, Hepatocellular carcinoma, Nausea, Anemia, Ileus, Abdominal pain, Constipa... ORPHA:79473
Hepatocellular Carcinoma
Hyponatremia, Hypercalcemia, Anorexia, Thrombocytosis, Esophageal varix, Hypokalemia, Polycythemi... ORPHA:88673
Erythroderma, Lethal Congenital
Failure to thrive, Hypoalbuminemia OMIM:227090
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Psoriasiform dermatitis, Eczema, Bronchiectasis, Lymphadenopathy, Arthritis, Splenomegaly, Crohn'... OMIM:616100
Pancreatic Colipase Deficiency
Megaloblastic anemia, Cholelithiasis, Chronic diarrhea, Steatorrhea, Exocrine pancreatic insuffic... ORPHA:309108
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Hypernatremia, Splenomegaly, Gastritis, Crohn's disease, Elevated circulating C-r... OMIM:619381
Decreased HDL cholesterol concentration, Vomiting, Hypocholesterolemia, Failure to thrive, Acanth... ORPHA:14
Spondyloarthropathy, Susceptibility To, 1
Psoriasiform dermatitis, Inflammation of the large intestine, Hip osteoarthritis, Oligoarthritis,... OMIM:106300
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Cachexia, Vomiting, Nausea, Gastrointestinal dysmotility, Hypergonadotropic hypogonadi... ORPHA:298
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Cronkhite-Canada Syndrome
Cachexia, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsor... ORPHA:2930
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Trigonocephaly 1
Omphalocele, Meckel diverticulum OMIM:190440
Wolman Disease
Nausea and vomiting, Cachexia, Esophageal varix, Abdominal distention, Anemia, Bone-marrow foam c... ORPHA:75233
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... OMIM:267700
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Decreased serum thromboxane B2, Gastric ulcer, Iron deficiency anemia, Abnormal c... OMIM:618372
Immunodeficiency 58
Eczema, Allergic rhinitis, Dysphagia, Helicobacter pylori infection, Recurrent cutaneous abscess ... OMIM:618131
S-Adenosylhomocysteine Hydrolase Deficiency
Hyperhomocystinemia, Hepatocellular carcinoma, Elevated circulating creatine kinase concentration... ORPHA:88618
Autoimmune Hepatitis
Inflammation of the large intestine, Hepatocellular carcinoma, Sclerosing cholangitis, Fulminant ... ORPHA:2137
Chylomicron Retention Disease
Vomiting, Hypocholesterolemia, Failure to thrive, Abdominal distention, Acanthocytosis, Steatorrh... ORPHA:71
Trichohepatoenteric Syndrome 1
Increased serum iron, Thrombocytosis, Abnormality of iron homeostasis, Increased mean platelet vo... OMIM:222470
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Dysphagia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevated alp... ORPHA:64753
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Adenocarcinoma of th... ORPHA:447877
Cerebral Creatine Deficiency Syndrome 1
Feeding difficulties in infancy, Aganglionic megacolon, Vomiting, Failure to thrive, Ileus, Const... OMIM:300352
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Cystic Fibrosis
Rectal prolapse, Bronchiectasis, Chronic sinusitis, Pancreatitis, Hepatosplenomegaly, Steatorrhea... OMIM:219700
Isolated Agammaglobulinemia
Failure to thrive, Abnormal lymphocyte morphology, Anemia, Malabsorption, Thrombocytopenia, Cellu... ORPHA:229717
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Small for gestational age, Lipodystrophy, Spontaneous abortion, ... ORPHA:86816
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Juvenile gastrointestinal polyposis, Neoplasm of the rectum, Stomach cancer... ORPHA:480536
Macrophage Activation Syndrome
Neutropenia, Anemia, Splenomegaly, Decreased liver function, Increased circulating ferritin conce... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatocellular carcinoma, Failure to thrive, Splenomegaly, Conjugated hyperbilirubinemia, Diarrhe... OMIM:601847
Galloway-Mowat Syndrome 3
High palate, Failure to thrive, Hiatus hernia, Hypoalbuminemia, Camptodactyly OMIM:617729
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Inflammation of the large intestine, Acne, Arthritis, Palmoplantar pustu... ORPHA:324964
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Abdominal pain, Hematochezia, Colitis OMIM:203300
Sapho Syndrome
Psoriasiform dermatitis, Inflammation of the large intestine, Pustule, Synovitis, Acne, Arthritis... ORPHA:793
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Feeding difficulties in infancy, Thrombocytosis, Vomiting, Hypergonadotropic hyp... OMIM:212065
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly, Hepatic failure, Hyperammonemia ORPHA:664
Neuroendocrine Neoplasm Of Appendix
Midgut malrotation, Nausea and vomiting, Anorexia, Ovarian neoplasm, Constipation, Bowel urgency,... ORPHA:100079
Fanconi Anemia, Complementation Group O
Rectal atresia, Anal atresia OMIM:613390
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain, Melena OMIM:619182
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Nephrotic Syndrome, Type 11
Hypercholesterolemia, High palate, Cleft palate, Hypoalbuminemia OMIM:616730
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hypoalbuminemia OMIM:618349
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Dubowitz Syndrome
Acute lymphoblastic leukemia, Eczema, Rectal prolapse, High palate, Anemia, Malabsorption, Chroni... ORPHA:235
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Primary Biliary Cholangitis
Hepatocellular carcinoma, Celiac disease, Abnormal circulating lipid concentration, Abdominal dis... ORPHA:186
Inflammatory Skin And Bowel Disease, Neonatal, 1
Failure to thrive, Bloody diarrhea, Villous atrophy, Duodenitis OMIM:614328
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Rectal prolapse, Erysipelas, Intestinal lymphangiectasia, Narrow palate, Protein-losing enteropathy OMIM:235510
Abetalipoproteinemia, Fat malabsorption, Acanthocytosis OMIM:200100
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Rajab Interstitial Lung Disease With Brain Calcifications 1
High palate, Unconjugated hyperbilirubinemia, Esophageal varix, Vomiting, Small for gestational a... OMIM:613658
Hyponatremia, Hypoalbuminemia, B lymphocytopenia, Hypocholesterolemia, Feeding difficulties, Fail... ORPHA:79324
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Porphyria, Acute Intermittent
Hepatocellular carcinoma, Vomiting, Nausea, Paralytic ileus, Diarrhea, Abdominal pain, Constipation OMIM:176000
Anorectal Anomalies
Rectovaginal fistula, Anal atresia OMIM:107100
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Hepatic failure, Hyperbilirubinemia, Fat malabsorption OMIM:214950
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Feeding difficulties in infancy, Vomiting, Failure to thrive, Hyperbilirubinemia, Splenomegaly, H... OMIM:251880
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Gastritis, Abnormal erythrocyte morphology, Diarrhea, Folate-unresponsive m... ORPHA:2575
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypoproteinemia, Leukopenia, Failure to thrive, Anemia, Increased total bilirubin, ... OMIM:603553
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Tube feeding, Villous atrophy, Vomiting, Chronic diarrhea, Reduced ... OMIM:619510
Cutis Laxa, Autosomal Recessive, Type Ic
Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux OMIM:613177
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Aganglionic megacolon, Arthrogryposis multiplex congenita, Ileus, Splenomegaly, Hypogonadism, Mic... ORPHA:163746
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pyloric stenosis, Arthrogryposis multiplex congenita, Camptodactyly OMIM:614262
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Steatorrhea, Hepatic fa... OMIM:607765
Sinusitis, Myocarditis, Colon perforation, Fasciitis, Hepatitis, Melena, Gastritis, Gastrointesti... ORPHA:73263
Avian Influenza
Elevated circulating C-reactive protein concentration, Vomiting, Leukopenia, Elevated circulating... ORPHA:454836
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Nephrotic Syndrome, Type 14
Hypogonadism, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism OMIM:617575
Combined Oxidative Phosphorylation Defect Type 7
Oral-pharyngeal dysphagia, Paralytic ileus, Gastrostomy tube feeding in infancy, Failure to thrive ORPHA:254930
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Atrophic scars, Elevated maternal serum alpha-fetoprotein, Arthrogryposis multiplex congenita, In... OMIM:226730
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Cholestasis, Progressive Familial Intrahepatic, 1
Failure to thrive, Cholelithiasis, Splenomegaly, Conjugated hyperbilirubinemia, Diarrhea, Fat mal... OMIM:211600
Wolcott-Rallison Syndrome
Hyponatremia, Neutropenia, Iron deficiency anemia, Hyperbilirubinemia, Hyperammonemia, Acute hepa... ORPHA:1667
Absent Radius-Anogenital Anomalies Syndrome
Rectovaginal fistula, Perineal fistula, Rectal atresia, Anal atresia ORPHA:3016
Congenital Disorder Of Glycosylation, Type Id
High palate, Villous atrophy, Vomiting, Failure to thrive, Bifid uvula, Joint contracture of the ... OMIM:601110
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Leukopenia, Macroglossia, Anemia, Splenomegaly, Flexion contracture, Hypoalbuminemia... OMIM:617303
Osteootohepatoenteric Syndrome
Villous atrophy, Ileoileal intussusception, Hypokalemia, Episodic vomiting, Failure to thrive, We... OMIM:619377
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Colitis, Recurrent pneumonia, Bronchiectasis OMIM:301220
Granulomatosis With Polyangiitis
Nausea and vomiting, Prostatitis, Weight loss, Intestinal obstruction, Gastrointestinal hemorrhag... ORPHA:900
Sandifer Syndrome
Feeding difficulties, Esophagitis, Anemia, Hiatus hernia, Hematemesis, Gastroesophageal reflux, E... ORPHA:71272
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Hyperbilirubinemia, ... ORPHA:158057
Galloway-Mowat Syndrome 1
Hypoalbuminemia, High palate, Small for gestational age, Feeding difficulties, Joint contracture ... OMIM:251300
Microcephalic Primordial Dwarfism, Montreal Type
Shagreen patch, Cryptorchidism, Congenital pyloric atresia, Lipoatrophy ORPHA:2617
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Failure to thrive, Anemia, Splenomegaly, Steatorrhea, Malnutrition, Exocrine pancreatic insuffici... OMIM:612714
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Hyperammonemia, Abnormal macrophage morphology, He... ORPHA:292
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Abnormality of body weight, Leukopenia, Abnormal circulating ... ORPHA:2298
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Colonic diverticula, Small bowel diverticula, Inguinal hernia, Femoral hernia OMIM:223330
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Scarring, Failure to thrive, Feeding difficulties, Atrophic scars, Gastrostomy tube feeding in in... ORPHA:79396
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Celiac disease, Hepatocellular carcinoma, Abnorm... ORPHA:171
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Failure to thrive, Mal... OMIM:601095
Netherton Syndrome
Abnormal intestine morphology, Villous atrophy, Failure to thrive, Hypereosinophilia, Intestinal ... OMIM:256500
Tyrosinemia, Type I
Hepatocellular carcinoma, Failure to thrive, Hypertyrosinemia, Splenomegaly, Acute hepatic failur... OMIM:276700
X-Linked Non-Syndromic Intellectual Disability
Pyloric stenosis, Obesity, Meckel diverticulum, Small for gestational age ORPHA:777
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Failure to thrive, Anemia, Splenomegaly, Increased circulating ferr... OMIM:618963
Disorder Of Bile Acid Synthesis
Fat malabsorption ORPHA:79168
Bronchogenic Cyst
Dysphagia, Abdominal pain, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Aggressive Systemic Mastocytosis
Leukocytosis, Anorexia, Neutropenia, Abdominal cramps, Thrombocytopenia, Leukemia, Weight loss, A... ORPHA:98850
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Increased circulating ferritin conc... OMIM:615234
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Mungan Syndrome
Barrett esophagus, Megaduodenum, Hypoperistalsis, Intestinal pseudo-obstruction OMIM:611376
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Infertility, Megaloblastic anemia, Gastritis, Exocrine pancreatic insufficiency, Meconium ileus, ... OMIM:219721
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... ORPHA:766
Pancreatic Triacylglycerol Lipase Deficiency
Keratoconjunctivitis sicca, Colitis, Abdominal distention, Steatorrhea, Exocrine pancreatic insuf... ORPHA:309031
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Vomiting, Peritonitis, Nausea, Elevated circulating creati... ORPHA:36234
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis, Camptodactyly of finger ORPHA:1759
Acute Intermittent Porphyria
Nausea and vomiting, Hyponatremia, Pseudobulbar paralysis, Hepatocellular carcinoma, Abdominal di... ORPHA:79276
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dysphagia, Meckel diverticulum, Nasogastric tube feeding, Feeding difficulties, Poor suck ORPHA:163961
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Intestinal atresia, Anemia, Duodenal atresia ORPHA:3405
Periventricular Nodular Heterotopia
Pyloric stenosis, Gastroesophageal reflux, Hernia ORPHA:98892
Abnormal large intestine morphology, Abnormality of the small intestine, Elevated circulating cre... ORPHA:801
X-Linked Agammaglobulinemia
Neutropenia, Failure to thrive, Weight loss, Anemia, Malabsorption, Glossoptosis, Chronic diarrhe... ORPHA:47
Graft Versus Host Disease
Inflammatory abnormality of the skin, Vomiting, Stomatitis, Pneumonia, Nausea, Fasciitis, Myositi... ORPHA:39812
Maternal Uniparental Disomy Of Chromosome 4
Abnormal erythrocyte morphology, Elevated circulating creatine kinase concentration, Hypocholeste... ORPHA:96180
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Hydrocele testis OMIM:618154
Lysosomal Acid Lipase Deficiency
Decreased HDL cholesterol concentration, Esophageal varix, Vomiting, Leukopenia, Increased LDL ch... OMIM:278000
Juvenile Polyposis Syndrome
Neoplasm of the small intestine, Intussusception, Gastrointestinal hemorrhage, Diarrhea, Small in... ORPHA:2929
Aicardi-Goutieres Syndrome 9
Failure to thrive, Feeding difficulties, Weight loss, Anemia, Hepatosplenomegaly, Hypoalbuminemia... OMIM:619487
Wolfram Syndrome 2
Primary amenorrhea, Oligomenorrhea, Gastric ulcer OMIM:604928
Colonic Atresia
Omphalocele, Duodenal stenosis, Abdominal distention, Colonic atresia, Peptic ulcer ORPHA:1198
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Elevated circ... ORPHA:90291
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Corneal scarring, Spontaneous esophageal perforation, Atrophic scars, Anemia, Enamel h... OMIM:226600
Oculoskeletodental Syndrome
Hypercalcemia, Small for gestational age, Macroglossia, Splenomegaly, Hypocalcemia, Cryptorchidis... OMIM:618440
Congenital Bile Acid Synthesis Defect Type 2
Abnormal serum bile acid concentration, Failure to thrive, Hyperbilirubinemia, Conjugated hyperbi... ORPHA:79303
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Odynophagia, Hyperammonemia, Diarrhea, Abdominal pain, Hyp... ORPHA:99826
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia OMIM:208920
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia... ORPHA:567548
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Inflammation of the large intestine, Esophageal varix, Splenomegaly OMIM:614576
Recessive Dystrophic Epidermolysis Bullosa Inversa
Esophageal stricture, Gastrointestinal inflammation ORPHA:79409
Rhabdoid Tumor
Nausea and vomiting, Hypercalcemia, Weight loss, Anemia, Neoplasm of the liver, Poor appetite, Th... ORPHA:69077
Gaucher Disease, Type Ii
Dysphagia, Failure to thrive, Feeding difficulties, Protuberant abdomen, Anemia, Splenomegaly, Th... OMIM:230900
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Necrotizing enterocolitis, Gastroesophageal reflux, Episodic vomiting OMIM:201475
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Arteriosclerosis, Severe Juvenile
Anemia, Gastric ulcer OMIM:208060
Mitchell-Riley Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Malabsorption, Jejunal atresia, Intest... OMIM:615710
Hyperphosphatasia With Mental Retardation Syndrome 1
Aganglionic megacolon, Cleft palate, Feeding difficulties, Abnormal rectum morphology, Anteriorly... OMIM:239300
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
B lymphocytopenia, Failure to thrive in infancy, Villous atrophy, T lymphocytopenia, Chronic diar... OMIM:606367
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Leukopenia, Macroglossia, Anemia, Hernia, Hepatosplenomegaly, Flexion contracture, Hypoalbuminemi... ORPHA:505248
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Inflammation of the large intestine, Sterile abscess, P... ORPHA:3243
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Dysmenorrhea, Esophageal varix, Vomiting, Nausea, Elevated cir... ORPHA:264580
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Feeding difficulties, Hypoalbuminemia, Hemolytic anemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Feeding difficulties, Hypoalbuminemia, Hemolytic anemia ORPHA:529799
Non-Syndromic Anorectal Malformation
Ectopic anus, Rectovaginal fistula, Anal atresia, Anorectal anomaly, Rectourethral fistula, Persi... ORPHA:557
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Colon cancer OMIM:619097
Wolfram Syndrome
Feeding difficulties in infancy, Gastric ulcer, Anemia, Malabsorption, Hypogonadism, Gastrointest... ORPHA:3463
External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus
Pyloric stenosis OMIM:133705
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Abnormal circulating albumin concentration, Acute... ORPHA:86839
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Pyloric stenosis, Ankle flexion contracture, Dysphagia, Failure to thrive, Knee flexion contractu... OMIM:619461
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Combined Oxidative Phosphorylation Deficiency 37
Failure to thrive, Feeding difficulties, Bile duct proliferation, Hyperalaninemia, Decreased live... OMIM:618329
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Eczema, Abnormal intestine morphology, Infectious encephali... ORPHA:391487
X-Linked Lymphoproliferative Disease
Myocarditis, Inflammation of the large intestine, Splenomegaly, Absent natural killer cells, Hepa... ORPHA:2442
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Kindler Epidermolysis Bullosa
Dysphagia, Inflammation of the large intestine, Cheilitis, Abnormality of the anus, Esophagitis, ... ORPHA:2908
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Abdominal pain, Peritonitis ORPHA:656
Congenital Bile Acid Synthesis Defect Type 3
Bile duct proliferation, Hyperbilirubinemia, Hepatosplenomegaly, Hepatic failure, Fat malabsorption ORPHA:79302
Meconium Ileus
Meconium ileus, Microcolon OMIM:614665
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Cholangitis, Eczema, Feeding difficulties in infancy, Eryth... ORPHA:3260
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Leukocytosis, Rectal abscess, Osteomyelitis OMIM:116920
Reactive Arthritis
Inflammation of the large intestine, Pericarditis, Pustule, Arthritis, Osteomyelitis, Recurrent a... ORPHA:29207
Martinez-Frias Syndrome
Pancreatic hypoplasia, Duodenal atresia, Annular pancreas, Jejunal atresia, Intestinal malrotatio... OMIM:601346
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Camptodactyly of finger ORPHA:2547
Osteogenesis Imperfecta
Dysphagia, Small for gestational age, Abnormal dental enamel morphology, Inguinal hernia, Intesti... ORPHA:666
Autoimmune Lymphoproliferative Syndrome
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... ORPHA:3261
Dysphagia, Anorexia, Vomiting, Nausea, Paralytic ileus ORPHA:2912
Sepsis In Premature Infants
Vomiting, Functional abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Abd... ORPHA:90051
Congenital Dyserythropoietic Anemia Type Iii
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Melena, Anis... ORPHA:98870
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, High palate, Cleft palate, Abdominal distention, Splenomegaly, Pancreatic lympha... OMIM:235255
Leigh Syndrome With Nephrotic Syndrome
Feeding difficulties, Gastrostomy tube feeding in infancy, Episodic vomiting, Hypoalbuminemia ORPHA:255249
Myositis, Neoplasm of the gastrointestinal tract, Rheumatoid arthritis, Glomerulonephritis, Ulcer... ORPHA:99867
Icf Syndrome
Macroglossia, Anemia, Malabsorption, Abnormality of neutrophils, Lymphopenia, Protruding tongue, ... ORPHA:2268
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Bloody diarrhea, Gastrointestinal infarctions, Abdominal cramps, Vomiting, Pneumonia... ORPHA:544482
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Abnormal gallbladder morphology, Feeding difficulties, Gastrostomy t... ORPHA:512
Shwachman-Diamond Syndrome
Pancreatic hypoplasia, Neutropenia, Leukemia, Steatorrhea, Pancytopenia, Malnutrition, Acute myel... ORPHA:811
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Feeding difficulties, Esophagitis, Gastroesophageal reflux ORPHA:79350
Mirage Syndrome
Hyperkalemia, Hyponatremia, Leukopenia, Anemia, Chronic diarrhea, Achalasia, Esophageal stricture... OMIM:617053
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Syndromic Diarrhea
Bloody diarrhea, Villous atrophy, Hypoplasia of the thymus, Intractable diarrhea, Hepatoblastoma,... ORPHA:84064
Fg Syndrome Type 1
Pyloric stenosis, High palate, Abnormal large intestine morphology, Slender build, Inguinal herni... ORPHA:93932
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Secretory diarrhea, Hypoalbuminemia OMIM:614441
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Elevated circulating creatine kinase concentration, Feeding difficulti... OMIM:619055
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233710
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Serkal Syndrome
Congenital diaphragmatic hernia, Malrotation of small bowel ORPHA:139466
Bloody diarrhea, Inflammation of the large intestine, Anorexia, Enterocolitis, Vomiting, Endocard... ORPHA:707
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Leukocytosis, Thrombocytosis, Bloody diarrhea, Hypochromic anemia, Eosinophilic infiltration of t... OMIM:618213
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Morphological abnormality of the gastrointestinal tract, Congenital diaphrag... ORPHA:2847
Matthew-Wood Syndrome
Duodenal stenosis, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Congenital diaphragmatic... ORPHA:2470
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Neoplasm of the stomach, Adenomatous colonic polyposis, A... ORPHA:220460
Abdominal distention, Rectal prolapse, Megarectum ORPHA:508
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Granulomatous cholangitis, Abnormality ... ORPHA:562639
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Failure to thrive, Splenogonadal fusion, Intestina... OMIM:156810
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Hyperlipidemia, Small for gestational age, Abnormal circulating fatty-acid conce... ORPHA:567983
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Granulomatous Disease, Chronic, X-Linked
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Lymphadenitis, Discoid lupus rash, Splenomegaly, Osteomyelitis, Impaired o... OMIM:233690
Johanson-Blizzard Syndrome
Hypoproteinemia, Failure to thrive, Anemia, Malabsorption, Anal atresia, Anteriorly placed anus, ... ORPHA:2315
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... OMIM:600903
Selective Igm Deficiency
Non-infectious meningitis, Lymphadenopathy, Fasciitis, Crohn's disease, Allergic rhinitis, Stomac... ORPHA:331235
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Rectovaginal fistula, Feeding difficul... ORPHA:2538
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Megarectum, Thrombocytopenia, Feeding difficulties in infancy, Leukopenia OMIM:301056
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis OMIM:612591
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, High palate, Abdominal distention, Splenomegaly, Hepatosplenomegaly, Pancreatic ... ORPHA:1655
Cocaine Intoxication
Bloody diarrhea, Tubulointerstitial nephritis, Gastrointestinal infarctions, Vomiting, Nausea, In... ORPHA:90068
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Dysmenorrhea, Oligomenorrhea, Vomiting, Hepatocellular carcinoma, Nausea, Elevated circulating cr... ORPHA:79240
Hereditary Hyperekplexia
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:3197
Whipple Disease
Hyponatremia, Cachexia, Anorexia, Anemia, Malabsorption, Erectile dysfunction, Splenomegaly, Gast... ORPHA:3452
Acute Transverse Myelitis
Priapism, Gastroparesis, Abnormal libido, Paralytic ileus, Decreased circulating copper concentra... ORPHA:139417
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility, Polysplenia, Duodenal atresia, Intestinal malrotation OMIM:619608
Combined Immunodeficiency-Enteropathy Spectrum
Psoriasiform dermatitis, Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Abdominal... ORPHA:436252
Classical Ehlers-Danlos Syndrome
Rectal prolapse, Vomiting, Nausea, Hiatus hernia, Osteoarthritis, Gastroesophageal reflux, Chroni... ORPHA:287
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Bronchiectasis OMIM:619632
Multiple Osteochondromas
Intestinal obstruction, Dysphagia ORPHA:321
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Inflammation of the large intestine, Neutropenia, Chronic otitis media, Hypopl... ORPHA:906
Cystic Fibrosis, Modifier Of, 1
Meconium ileus OMIM:603855
Lactose intolerance, Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, C... ORPHA:443811
Isolated Biliary Atresia
Small for gestational age, Atretic gallbladder, Bile duct proliferation, Failure to thrive, Splen... ORPHA:30391
Whim Syndrome
Abnormality of the small intestine, Neutropenia, Parotitis, Lymphopenia, Cellulitis, Abnormality ... ORPHA:51636
Familial Mediterranean Fever
Pericarditis, Vomiting, Peritonitis, Arthritis, Splenomegaly, Episodic abdominal pain, Crohn's di... OMIM:249100
Omenn Syndrome
Hypoproteinemia, B lymphocytopenia, Failure to thrive, Hypoplasia of the thymus, Anemia, Splenome... OMIM:603554
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Intussusception OMIM:147710
Williams Syndrome
Nausea and vomiting, Rectal prolapse, Abnormal gastric mucosa morphology, Peptic ulcer, Macroglos... ORPHA:904
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Distal arthrogryposis, High palate, Cleft palate, Scarring, Arthrogryposis multiplex congenita, I... OMIM:601776
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Hepatocellular carcinoma, Protuberant abdomen, Polycystic ov... ORPHA:79259
Coffin-Lowry Syndrome
High palate, Rectal prolapse, Narrow palate OMIM:303600
Lysosomal Acid Lipase Deficiency
Esophageal varix, Abdominal distention, Fatal liver failure in infancy, Bone-marrow foam cells, H... ORPHA:275761
Chronic Granulomatous Disease
Pyloric stenosis, Malabsorption, Splenomegaly, Tracheoesophageal fistula, Abnormality of neutrophils ORPHA:379
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Failure to thrive, Cryptorchidism, Meckel diverticulum, Inguinal hernia OMIM:602613
Shwachman-Diamond Syndrome 1
Neutropenia, Thrombocytopenia, Small for gestational age, Failure to thrive, Anemia, Persistence ... OMIM:260400
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Duodenal stenosis, Annular pancreas, Asplenia, Volvulus, Intestinal malrot... ORPHA:210122
Immunodeficiency 87 And Autoimmunity
Hemolytic anemia, Cleft palate, Villous atrophy, Elevated circulating C-reactive protein concentr... OMIM:619573
Abnormal jejunum morphology ORPHA:449280
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated circulating C-reactive protein concentration, Weight loss, Anemia, Abnormal testis morph... ORPHA:54251
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Celiac disease, Xerostomia, Aplasia/Hypoplasia of the sple... ORPHA:227990
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Inflammation of the large intestine, Anorexia, Mediastinal ly... OMIM:181000
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Anemia, Malabsorption, Lymphopenia, Inguinal hernia ORPHA:935
Fanconi Anemia, Complementation Group L
Cleft palate, Anemia, Esophageal atresia, Anal atresia, Tracheoesophageal fistula OMIM:614083
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Adenoma sebaceum, Esophagitis, Insulinoma, Pituitary adenoma, Pitu... OMIM:131100
Down Syndrome
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Myeloproliferative disorder... OMIM:190685
Epidermolysis Bullosa Simplex With Pyloric Atresia
Vomiting, Elevated circulating creatine kinase concentration, Abdominal distention, Atrophic scar... ORPHA:158684
Stevens-Johnson Syndrome
Nausea and vomiting, Dysphagia, Weight loss, Anemia, Dyspareunia, Gastrointestinal hemorrhage, Es... ORPHA:36426
Williams-Beuren Syndrome
Feeding difficulties in infancy, Rectal prolapse, Celiac disease, Recurrent otitis media, Colonic... OMIM:194050
Microcolon OMIM:251400
Mixed Connective Tissue Disease
Leukopenia, Xerostomia, Splenomegaly, Gastritis, Gastrointestinal hemorrhage, Hemolytic anemia, G... ORPHA:809
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hyperlipidemia, Abdominal pain, Hydrocele testis, Hypoalbuminemia ORPHA:567546
Esophageal Atresia
Pyloric stenosis, Omphalocele, Dysphagia, Cleft palate, Feeding difficulties in infancy, Duodenal... ORPHA:1199
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Colonic diverticula OMIM:173900
Tracheobronchopathia Osteochondroplastica
Esophagitis, Recurrent pneumonia, Pneumonia ORPHA:3348
Biliary, Renal, Neurologic, And Skeletal Syndrome
Esophageal varix, Failure to thrive, Bile duct proliferation, Abdominal distention, Elevated circ... OMIM:619534
Duodenal Atresia
Duodenal atresia OMIM:223400
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... OMIM:616860
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Macrocytic anemia, Atrophic gastritis, Celiac disease, Xerostomia,... ORPHA:227982
Muir-Torre Syndrome
Benign gastrointestinal tract tumors, Adenoma sebaceum, Colonic diverticula, Duodenal adenocarcin... OMIM:158320
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Failure to thrive in infancy, Aganglionic megacolon, High palate, Nodular go... OMIM:162300
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Duodenal adenocarcinoma, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:454840
Abnormality of the spleen, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation ORPHA:1666
Toxic Epidermal Necrolysis
Nausea and vomiting, Dysphagia, Neutropenia, Weight loss, Intestinal perforation, Anemia, Malabso... ORPHA:537
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Anemia, Abnormality of enteric nervous system morp... ORPHA:85451
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Polysplenia, Hypoplasia of the small intestine OMIM:200995
Familial Colorectal Cancer Type X
Nausea and vomiting, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcinoma, Malabsorpt... ORPHA:440437
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia, Abnormal large intestine morphology, Narrow palate, Lipoma, Intestinal polyposis, Hamar... ORPHA:109
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Increased serum iron, Decreased transferrin saturation, Anisopoikilocytosis, Elevated hepatic iro... ORPHA:300298
Li-Fraumeni Syndrome
Colorectal polyposis, Acute lymphoblastic leukemia, Neoplasm of the rectum, Stomach cancer, Neopl... ORPHA:524
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Dysphagia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmu... ORPHA:100026
Frontometaphyseal Dysplasia 2
Pyloric stenosis, Feeding difficulties in infancy, High palate, Cleft palate, Bifid uvula, Crypto... OMIM:617137
Lynch Syndrome
Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carcinoma, Malabsorption, Gastrointes... ORPHA:144
Sacral Defect With Anterior Meningocele
Rectal abscess, Constipation OMIM:600145
Hardikar Syndrome
Esophageal varix, Splenomegaly, Hepatosplenomegaly, Hypersplenism, Umbilical hernia, Abdominal pa... OMIM:301068
Tarp Syndrome
Cleft palate, Failure to thrive, Tongue nodules, Glossoptosis, Extramedullary hematopoiesis, Cryp... ORPHA:2886
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Congenital pyloric atresia, Abdominal distention, Enamel hypoplasia, Intesti... ORPHA:79403
Storm Syndrome
Fat malabsorption OMIM:185069
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Esophageal varix, Cholangiocarcinoma, Pancreatic cysts, Feeding difficulties, Hepat... ORPHA:731
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... OMIM:618849
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Cachexia, Gastric ulcer, Esophageal varix, Azoospermia, Feeding diffic... ORPHA:2072
Inflammatory abnormality of the skin, Urinary bladder inflammation, Neoplasm of the rectum, Neopl... ORPHA:556
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Duodenal stenosis, Anal atresia, Decreased body weight, Cryptorchidism... OMIM:617063
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reduced haptoglobin level, Dysphagia, Unconjugated hyperbilirubinemia, Leukopen... ORPHA:447
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Cleft palate, High palate, Duo... ORPHA:84
Microphthalmia, Syndromic 1
Pyloric stenosis, High, narrow palate, High palate, Rectal prolapse, Aganglionic megacolon, Recur... OMIM:309800
Lysinuric Protein Intolerance
Decreased response to growth hormone stimulation test, Hyperglycinemia, Hyperammonemia, Increased... ORPHA:470
Musculocontractural Ehlers-Danlos Syndrome
High palate, Cleft palate, Atrophic scars, Malrotation of small bowel, Arthrogryposis multiplex c... ORPHA:2953
Autosomal Recessive Cutis Laxa Type 1
Pyloric stenosis, Small bowel diverticula, Hernia, Inguinal hernia ORPHA:90349
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Bacterial endocarditis, Anorexia, Pneumonia, Arthritis, Inc... ORPHA:48435
Fryns Syndrome
Ectopic pancreatic tissue, Omphalocele, Aganglionic megacolon, Cleft palate, Duodenal atresia, Me... OMIM:229850
Mosaic Trisomy 16
Meckel diverticulum, Small for gestational age, Nasogastric tube feeding in infancy, Gastrostomy ... ORPHA:1708
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Feeding difficulties, Hepatosplenomegaly, Esophagitis, Hepatic failure ORPHA:541423
Multiple Myeloma
Hyperproteinemia, Hypercalcemia, Functional abnormality of the gastrointestinal tract, Elevated c... ORPHA:29073
High palate, Vomiting, Failure to thrive, Feeding difficulties, Hypogonadotropic hypogonadism, Ab... ORPHA:79318
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis ORPHA:70591
Carney Triad
Nausea and vomiting, Anorexia, Gastrointestinal stroma tumor, Anemia, Gastrointestinal hemorrhage... ORPHA:139411
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of the anus, Abnormal rectum morphology, Feeding difficulties ORPHA:2556
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dysphagia, Decreased serum zinc, Iron deficiency anemia, Atrophic scars, Esophageal ulceration, J... ORPHA:79408
Ethylene Glycol Poisoning
Hyperkalemia, Vomiting, Nausea, Gastritis, Hypocalcemia ORPHA:31826
Diamond-Blackfan Anemia 7
Cleft palate, Esophagitis, Recurrent otitis media OMIM:612562
Dermatosparaxis Ehlers-Danlos Syndrome
Hiatus hernia, Esophagitis, Gastroesophageal reflux ORPHA:1901
Multiple Endocrine Neoplasia Type 4
Parathyroid carcinoma, Pituitary null cell adenoma, Pituitary growth hormone cell adenoma, Esopha... ORPHA:276152
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Omphalocele, Cleft palate, Meckel diverticulum, Duodenal atresia, Asplenia, Annular pancreas, Con... OMIM:265380