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Gene: Epcam MGI:106653

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

epithelial cell adhesion molecule

Synonyms:

Tacstd1, GA733-2, EGP-2, EpCAM, panepithelial glycoprotein 314, gp40, CD326, EpCAM1, Ep-CAM, Egp314, Ly74, TROP1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Epcam 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.

Human diseases associated with Epcam (4 diseases)
Human diseases predicted to be associated with Epcam (992 diseases)

The table below shows human diseases associated to Epcam by orthology or direct annotation.

Disease	Matching phenotypes	Source
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia	OMIM:613217
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ...	ORPHA:144
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer	OMIM:613244

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

Disease	Matching phenotypes	Source
Lactose Intolerance, Adult Type	Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,...	OMIM:223100
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Growth delay, Abnormal intestine...	OMIM:251850
Angioedema, Hereditary, 3	Intestinal edema, Pharyngeal edema, Facial edema, Angioedema, Episodic abdominal pain, Vomiting	OMIM:610618
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Arthritis, Villous atrophy, Crypt hyperplasia	OMIM:613217
Diarrhea 9	Diarrhea, Villous atrophy	OMIM:618168
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ...	ORPHA:103907
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Bronchiectasis...	OMIM:619445
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con...	ORPHA:209964
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Familial Hypofibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding	ORPHA:98881
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility	OMIM:262800
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Villous atrophy, Diarrhea, Vomiting, Protein-losing enteropathy	OMIM:615863
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Epilepsy With Bilateral Occipital Calcifications	Celiac disease	OMIM:226810
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,...	OMIM:106100
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of hands, Abnormal soft pal...	ORPHA:100050
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Bile Acid Malabsorption, Primary, 1	Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption	OMIM:613291
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Growth delay, Colitis, Crohn's disease	OMIM:613148
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy, Malabsorption	OMIM:238750
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration	OMIM:223000
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Growth delay, Inflammation ...	OMIM:266600
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea...	ORPHA:263665
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Intrauterine growth retardation, Feeding difficulties	OMIM:620368
Chylomicron Retention Disease	Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ...	OMIM:246700
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Angioedema, Hereditary, 8	Diarrhea, Episodic vomiting, Abdominal pain	OMIM:619367
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Pustule, Bloody diarrhea, Erythroderma, Blepharitis	OMIM:614328
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Placental Insufficiency	Intrauterine growth retardation, Abnormal umbilical cord blood vessel morphology, Abnormal placen...	ORPHA:439167
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Short stature, Skin rash, Feeding difficulties in infancy, Secretory diarrhea, E...	OMIM:616050
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Severe Canavan Disease	Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Feeding difficulties, Gastroesoph...	ORPHA:314911
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Chronic hepatitis, Colitis, Intraut...	OMIM:614602
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ...	ORPHA:329971
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Early Myoclonic Encephalopathy	Lethargy, Feeding difficulties, Poor suck, Dysphagia	ORPHA:1935
Feingold Syndrome 2	Postnatal growth retardation, Short stature, Intestinal atresia	OMIM:614326
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Multiple Intestinal Atresia	Gastrointestinal atresia, Polyhydramnios, Duodenal stenosis	ORPHA:2300
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy	ORPHA:103910
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Short stature, Aganglionic meg...	ORPHA:388
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Dehydration, Abnormal small intestinal villus mo...	ORPHA:2290
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting	OMIM:606528
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti...	ORPHA:1201
Jejunal Atresia	Jejunal atresia	OMIM:243600
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:231200
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Proprotein Convertase 1/3 Deficiency	Diarrhea, Malabsorption, Villous atrophy	OMIM:600955
Immunodeficiency, Common Variable, 11	Growth delay, Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea	OMIM:615767
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Congenital Factor Xi Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
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
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ...	ORPHA:2070
Cyclic Vomiting Syndrome	Anorexia, Abdominal pain, Gastrointestinal dysmotility, Growth delay, Vomiting, Lethargy, Nausea	OMIM:500007
Rabies	Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia	ORPHA:770
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Eczema, Chronic diarrhea, Oligoarthritis, Growth delay, Vomiting, Erythroderma, ...	OMIM:619510
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Edema, Diarrhea, Vomiting, Protein-losing enteropathy, Steatorrhea, Hepatic failure	OMIM:602579
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Abdominal pain, Malabsorption, Growth delay, Ascites	ORPHA:100025
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Chronic mucocutaneous candidiasis, ...	OMIM:209920
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach...	OMIM:121300
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Ch...	ORPHA:90362
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Dihydropyrimidinase Deficiency	Growth delay, Feeding difficulties in infancy, Lethargy, Anal atresia	OMIM:222748
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions	OMIM:602248
Hemophilia B	Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma	OMIM:306900
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Intracrania...	OMIM:273800
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged...	ORPHA:849
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Cephalohematoma, Melena,...	ORPHA:853
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Netherton Syndrome	Hypernatremic dehydration, Villous atrophy, Recurrent skin infections, Eczema, Allergic rhinitis,...	OMIM:256500
Homocystinuria Without Methylmalonic Aciduria	Lethargy, Vomiting	ORPHA:622
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche...	OMIM:175500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Psoriasiform dermatitis, Jejunal atresia, Intestinal malrotation, Ileal a...	OMIM:243150
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi...	ORPHA:85446
Refractory Celiac Disease	Villous atrophy, Inflammatory abnormality of the skin, Malabsorption, Abdominal pain, Chronic dia...	ORPHA:398063
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Bradykinesia, Protein-losing enteropathy	OMIM:619063
Thyroid Dyshormonogenesis 1	Growth delay, Macroglossia, Constipation, Lethargy	OMIM:274400
Mitchell-Riley Syndrome	Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Ascites...	OMIM:615710
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Spontaneous he...	ORPHA:98878
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Abnormal bleeding, Malabsorption	ORPHA:79301
Brunner Syndrome	Diarrhea	OMIM:300615
Mitochondrial Complex I Deficiency, Nuclear Type 3	Lethargy, Episodic vomiting, Feeding difficulties	OMIM:618224
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula	OMIM:601110
Dengue Fever	Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,...	ORPHA:99828
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting	OMIM:610370
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Chronic diarrhea, Recurrent pne...	OMIM:614700
Volvulus Of Midgut	Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv...	OMIM:193250
Pancreatic Colipase Deficiency	Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency	ORPHA:309108
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,...	ORPHA:79319
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Growt...	OMIM:617341
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eczema, Glomerulonephritis, Chronic diarrhea, Ileus, Hepatitis, Arthritis, Eryth...	OMIM:304790
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Growth delay, Lethargy, Dysphagia	OMIM:613561
Enteric Anendocrinosis	Diarrhea, Vomiting, Portal hypertension, Malabsorption	ORPHA:83620
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting	ORPHA:543
Inflammatory Bowel Disease 3	Ulcerative colitis	OMIM:604519
Inflammatory Bowel Disease 21	Ulcerative colitis	OMIM:612354
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Hydrops fetalis, Polyhydramnios, Intestinal atresia	ORPHA:3405
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Feeding difficulties, Intermittent ...	OMIM:620270
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy, Diarrhea, Vomiting	ORPHA:30925
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A...	ORPHA:99745
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito...	ORPHA:343
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation	ORPHA:2978
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleeding following circ...	OMIM:202400
Immunodeficiency 31C	Chronic oral candidiasis, Villous atrophy, Osteomyelitis, Short stature, Eczema, Diarrhea, Bronch...	OMIM:614162
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Eczema, Celiac disease, Postnatal growth retardation, Thyroiditis, Delayed puberty	OMIM:618985
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Allerg...	ORPHA:411696
Mitochondrial Complex I Deficiency, Nuclear Type 5	Growth delay, Vomiting, Dysphagia, Lethargy, Episodic vomiting	OMIM:618226
Pontocerebellar Hypoplasia, Type 6	Narrow palate, Feeding difficulties, Gastroesophageal reflux, Lethargy, Poor suck	OMIM:611523
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Lethargy, Feeding difficulties	OMIM:617065
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, In...	ORPHA:424019
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Martinez-Frias Syndrome	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Intrau...	OMIM:601346
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Depression, Lethargy	ORPHA:178029
Myopathy, Myofibrillar, 1	Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,...	OMIM:601419
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr...	ORPHA:169802
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Epidermolysis Bullosa Acquisita	Inflammation of the large intestine, Abdominal pain	ORPHA:46487
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Methylmalonic Acidemia With Homocystinuria	Lethargy, Skin rash, Feeding difficulties	ORPHA:26
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Intrauterine growth retardation, Severe intrauterine growth retardation, Small placenta	ORPHA:73272
Congenital Short Bowel Syndrome	Intestinal hypoplasia, Short stature, Intestinal malrotation	ORPHA:2301
Immunodeficiency 104	Diarrhea, Gastroesophageal reflux	OMIM:608971
Idiopathic Congenital Hypothyroidism	Facial edema, Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy	ORPHA:95717
Inflammatory Bowel Disease 25, Autosomal Recessive	Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ...	OMIM:612567
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s...	OMIM:300048
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Epistaxis, Gastrointestinal angiodysplasia, Me...	ORPHA:99147
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent pneumonia, Protein-losing enteropathy, Chronic sinusitis	OMIM:613502
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Malonyl-Coa Decarboxylase Deficiency	Short stature, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated c...	OMIM:248360
Silver-Russell Syndrome Due To A Point Mutation	Intrauterine growth retardation, Small placenta, Oligohydramnios	ORPHA:397590
Citrullinemia Type I	Feeding difficulties, Gastroesophageal reflux, Vomiting, Lethargy, Hepatic failure	ORPHA:247525
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Duodenal Atresia	Duodenal atresia	OMIM:223400
Combined Oxidative Phosphorylation Deficiency 2	Feeding difficulties in infancy, Lethargy, Neonatal death, Edema	OMIM:610498
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Short stature, Abdominal pain, High, narrow palat...	ORPHA:79076
Hypercholanemia, Familial 1	Fat malabsorption, Steatorrhea	OMIM:607748
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora...	ORPHA:464321
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Se...	OMIM:619377
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy, Dysphagia	OMIM:233910
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Chylous Ascites	Ascites, Abnormal intestine morphology, Pancreatitis, Lymphedema	ORPHA:1160
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ...	ORPHA:319218
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Developmental And Epileptic Encephalopathy 92	Lethargy, Feeding difficulties	OMIM:617829
Congenital Fibrinogen Deficiency	Decreased testicular size, Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Abnormal umb...	ORPHA:335
Short Chain Acyl-Coa Dehydrogenase Deficiency	Intrauterine growth retardation, Lethargy, Feeding difficulties	ORPHA:26792
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Diarrhea, Lymphocytic infiltratio...	ORPHA:436159
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Skin rash, Anterior uveitis, Colitis, Ileal ulcer	OMIM:616744
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Duodenal atresia	ORPHA:3004
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Lethargy	OMIM:274270
Aplasia Cutis Congenita	Prolonged bleeding time, Spinal dysraphism	ORPHA:1114
Junctional Epidermolysis Bullosa Inversa	Growth delay, Gastrointestinal inflammation	ORPHA:79405
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Anorexia, Malabsorption, Chronic diarrhea, Hydrops fetalis, Dehydration, Vomitin...	OMIM:557000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Psoriasiform dermatitis, Eczema, Chronic diarrhea, Erythroderma, Thyroiditis, Ch...	OMIM:606367
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Lethargy, Short stature	ORPHA:2089
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Chronic diarrhea, ...	OMIM:619858
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy, Herpes simplex encephalitis	OMIM:617900
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Chronic otitis media, Chronic sinusitis, Intestinal malrotation, Duodenal atresia	OMIM:619608
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Chronic diarrhea, Duodenal ulcer, Steatorrhea	ORPHA:3217
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Inflammatory abnormality of the skin, Short stature, Eczema, Diarrhea, Esophagea...	ORPHA:391487
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Episodic vomiting, Necrotizing enterocolitis, Gastroesophageal reflux, Lethargy	OMIM:201475
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Volvulus, Gastrointestinal infarctions	ORPHA:1059
Cholesteryl Ester Storage Disease	Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix	ORPHA:75234
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting	OMIM:142680
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Psoriasiform dermatitis, Eczema, Diarrhea, Lymphocytic infiltration of the co...	OMIM:616100
Thiamine-Responsive Megaloblastic Anemia Syndrome	Lethargy, Diarrhea, Short stature, Anorexia	ORPHA:49827
N-Acetylglutamate Synthase Deficiency	Lethargy, Vomiting	OMIM:237310
Mednik Syndrome	Jejunal atresia, Diarrhea, Growth delay, Neonatal death, Volvulus, Microcolon	OMIM:609313
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Esophageal stenosis, Colitis	OMIM:615190
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D...	ORPHA:85450
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Late-Onset Junctional Epidermolysis Bullosa	Growth delay, Gastrointestinal inflammation	ORPHA:79406
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy, Herpes simplex encephalitis	OMIM:613002
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, Abdominal pain...	OMIM:619381
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Gaba-Transaminase Deficiency	Lethargy, Feeding difficulties	OMIM:613163
Attrv30M Amyloidosis	Diarrhea, Atrioventricular block, Cardiomyopathy, Constipation, Arrhythmia	ORPHA:85447
Fanconi Anemia, Complementation Group W	Growth delay, Intrauterine growth retardation, Duodenal atresia	OMIM:617784
Duodenal Atresia	Polyhydramnios, Duodenal atresia	ORPHA:1203
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Congenital Disorder Of Glycosylation, Type Ih	Edema, Abdominal distention, Diarrhea, Vomiting, Protein-losing enteropathy, Decreased liver func...	OMIM:608104
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack...	ORPHA:100080
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Colitis, Crohn's disease	OMIM:618394
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Idiopathic Intracranial Hypertension	Lethargy, Vomiting, Nausea, Depression	ORPHA:238624
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Tricuspid regurgitation, Poor appetite, Anorexia, Hematemesis, Bowel urgency...	ORPHA:100075
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Prolonged bleeding time, Abnormal bleeding, Epistaxis, Prolonged ble...	OMIM:187900
Folate Malabsorption, Hereditary	Feeding difficulties in infancy, Diarrhea, Malabsorption	OMIM:229050
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy, Constipation, Feeding difficulties	ORPHA:101150
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Immunodeficiency 76	Growth delay, Chronic diarrhea, Colitis	OMIM:619164
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Vomiting	OMIM:618225
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix, Lethargy, Ascites	OMIM:215600
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease...	ORPHA:79327
Rapadilino Syndrome	Short stature, High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate	OMIM:266280
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties	OMIM:619971
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Abdominal pain, Anorexia, Malabsorption, Diarrh...	ORPHA:98850
Self-Improving Dystrophic Epidermolysis Bullosa	Growth delay, Gastrointestinal inflammation	ORPHA:79411
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Lethal Infantile Mitochondrial Myopathy	Lethargy, Fatal liver failure in infancy	ORPHA:254857
Esophagitis, Eosinophilic, 2	Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Vomiting, Esophagitis, Dysphagia	OMIM:610247
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Cardiogenic shock, Diarrhea, Ne...	ORPHA:449285
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Growth delay, Lethargy, Gastroesophageal reflux, Feeding difficulties	OMIM:614857
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy	OMIM:618683
Linear Iga Dermatosis	Inflammation of the large intestine	ORPHA:46488
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Fat malabsorption, Hepatic failure, Prolonged prothrombin time	OMIM:214950
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Classic Galactosemia	Diarrhea, Feeding difficulties, Depression, Vomiting, Hepatic failure, Lethargy, Ascites, Delayed...	ORPHA:79239
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Abdominal pain, Acholic st...	ORPHA:1414
Bile Acid Synthesis Defect, Congenital, 3	Diarrhea, Hematochezia, Acholic stools, Prolonged prothrombin time, Steatorrhea, Hepatic failure	OMIM:613812
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Furrowed tongue, Hamarto...	ORPHA:2930
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Diarrhea, Intracranial hemorrhage, Oral cavity bleeding, ...	ORPHA:324636
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges...	ORPHA:727
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension	ORPHA:79456
Vitamin B12-Responsive Methylmalonic Acidemia	Nausea and vomiting, Lethargy, Dehydration	ORPHA:28
Glycogen Storage Disease Ixb	Growth delay, Diarrhea, Short stature	OMIM:261750
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Short stature, Anal fissure, Eczema, Perianal abscess, Lymphadenitis, Recurre...	OMIM:618935
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Feeding difficulties, Protein-losing enteropathy, Polyhydramnios, Lymphedema	OMIM:618154
Cholestasis, Progressive Familial Intrahepatic, 2	Diarrhea, Fat malabsorption, Short stature, Hepatocellular carcinoma	OMIM:601847
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Growth delay...	OMIM:226300
Propionic Acidemia	Short stature, Eczema, Poor appetite, Feeding difficulties in infancy, Dehydration, Constipation,...	OMIM:606054
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Large placenta, Umbilical hernia, Polyhydramnios	ORPHA:254534
Mitochondrial Complex I Deficiency, Nuclear Type 6	Lethargy, Vomiting	OMIM:618228
Familial Thyroid Dyshormonogenesis	Facial edema, Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy	ORPHA:95716
Recessive Dystrophic Epidermolysis Bullosa Inversa	Growth delay, Esophageal stricture, Gastrointestinal inflammation	ORPHA:79409
Diarrhea 13	Secretory diarrhea, Vomiting	OMIM:620357
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,...	OMIM:611376
Isovaleric Acidemia	Lethargy, Vomiting, Dehydration	OMIM:243500
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Pericarditis, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Feeding di...	OMIM:212065
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemi...	ORPHA:774
Hypercalcemia, Infantile, 1	Lethargy, Vomiting, Dehydration	OMIM:143880
Cog7-Cdg	Postnatal growth retardation, Diarrhea, Feeding difficulties	ORPHA:79333
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Pyruvate Dehydrogenase Deficiency	Feeding difficulties in infancy, Growth delay, High palate, Intrauterine growth retardation, Leth...	ORPHA:765
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Nausea and vomiting, Anorexia, Abdominal pain, Dehydration, Feeding difficulties, Lethargy, Pancr...	ORPHA:79312
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Secretory diarrhea, Cleft palate,...	OMIM:619573
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Palpebral edema, Postnatal growth retardation, Feeding difficulties, Gastroesophageal reflux, Eso...	ORPHA:79350
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Dihydrolipoamide Dehydrogenase Deficiency	Lethargy, Decreased liver function, Feeding difficulties	OMIM:246900
Immunodeficiency 48	Diarrhea	OMIM:269840
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf...	OMIM:603041
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Enterokinase Deficiency	Diarrhea	OMIM:226200
Maple Syrup Urine Disease	Feeding difficulties in infancy, Vomiting, Lethargy, Pancreatitis, Cerebral edema	OMIM:248600
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Lethargy, N...	ORPHA:927
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Abdominal pain, Pul...	ORPHA:729
Dracunculiasis	Nausea and vomiting, Diarrhea	ORPHA:231
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal...	ORPHA:298
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Polyhydramnios, Feeding difficulties in infancy, Pylor...	ORPHA:1199
Porphyria, Acute Intermittent	Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep...	OMIM:176000
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Classic Glucose Transporter Type 1 Deficiency Syndrome	Lethargy	ORPHA:71277
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Short stature, Skin rash, Tracheoesophageal fistula, Feeding difficulties, High palate, Stomatiti...	OMIM:277380
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Cleft palate, Feeding difficulties, Growth delay, Stomatitis, Intrauterine growth reta...	ORPHA:79284
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Protein avoidance, Lethargy, Vomiting, Cerebral edema	OMIM:237300
Pyruvate Dehydrogenase E3 Deficiency	Lethargy, Hepatic failure, Vomiting, Feeding difficulties	ORPHA:2394
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatoblastoma, Short stature, Bloody diarrhea, Colitis, Intractable ...	ORPHA:84064
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ...	ORPHA:144
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex...	ORPHA:100079
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
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia	ORPHA:1267
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab...	ORPHA:39812
Fetal Akinesia Deformation Sequence 1	Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine...	OMIM:208150
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Abdominal pain	OMIM:620137
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Immunodeficiency 11B With Atopic Dermatitis	Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis	OMIM:617638
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Protein avoidance, Decreased liver function, Acute hepatitis, Episodic vomiting, Lethargy	OMIM:238970
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97278
Cholestasis, Progressive Familial Intrahepatic, 1	Fat malabsorption, Short stature, Epistaxis, Diarrhea	OMIM:211600
Carnitine Deficiency, Systemic Primary	Lethargy, Diarrhea, Vomiting, Dehydration	OMIM:212140
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Dysphagia	ORPHA:309162
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding	ORPHA:163961
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Abdominal pain, Vasculitis, Gastrointestinal infarctions, Petechiae,...	ORPHA:91138
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Lethargy, Pancreatitis, Nausea and vomiting	ORPHA:289916
Late-Onset Isolated Acth Deficiency	Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Hepatitis, Constipation,...	ORPHA:199299
Satoyoshi Syndrome	Diarrhea, Short stature, Malabsorption	OMIM:600705
Methanol Poisoning	Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Permanent atrial fibrillation, Inflam...	ORPHA:31825
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Esophageal varix, Prolonged ...	ORPHA:64743
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Bloody diarrhea, Feeding difficulties	OMIM:615119
Citrullinemia Type Ii	Diarrhea, Mania, Vomiting, Hepatocellular carcinoma, Lethargy, Delayed menarche, Pancreatitis, Ce...	ORPHA:247585
Feingold Syndrome	Esophageal atresia, Short stature, Duodenal atresia	ORPHA:1305
Combined Oxidative Phosphorylation Deficiency 52	Lethargy, Pancreatitis, Anorexia	OMIM:619386
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Riboflavin Deficiency	Lethargy, Poor suck	OMIM:615026
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Epistaxis, Anorexia, Malabsorption, Congestive heart failure, Diarrh...	ORPHA:33226
Reticular Dysgenesis	Diarrhea, Malabsorption	ORPHA:33355
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Postnatal growth retardation, Pyloric stenosis	OMIM:617219
Erythroderma Desquamativum	Diarrhea	ORPHA:314
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi...	ORPHA:440437
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Anorexia, Abdominal pain, Myocardial infarction, Malab...	ORPHA:3452
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis	OMIM:613960
Genetic Transient Congenital Hypothyroidism	Edema, Feeding difficulties, Macroglossia, Constipation, Lethargy	ORPHA:226316
Chylomicron Retention Disease	Abdominal distention, Diarrhea, Growth delay, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:71
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Inflammation of the large intestine, Gastritis, Diarrhea	OMIM:618108
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Necrotizing Enterocolitis	Edema, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting, Lethargy, Ascites	ORPHA:391673
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,...	OMIM:615895
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure	OMIM:607765
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Arrhythmia	ORPHA:228371
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Lethargy, Vomiting, Cerebral edema	OMIM:201450
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Duoden...	OMIM:619227
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Hemochromatosis, Type 2A	Arthritis, Lethargy	OMIM:602390
Fanconi Anemia, Complementation Group B	Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth retardation, Duo...	OMIM:300514
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ...	OMIM:617718
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Alg6-Cdg	Macroglossia, Protein-losing enteropathy, Feeding difficulties	ORPHA:79320
Rhabdoid Tumor	Neoplasm of the liver, Hypertension, Internal hemorrhage, Weight loss	ORPHA:69077
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation, Portal hypertension	OMIM:619431
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Vomiting, Feeding difficulties	OMIM:612075
Blue Rubber Bleb Nevus	Rectal prolapse, Intestinal bleeding, Volvulus, Intussusception	OMIM:112200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Lethargy, Vomiting	OMIM:600649
Erythermalgia, Primary	Diarrhea, Xerostomia, Palpitations, Constipation	OMIM:133020
Infantile Liver Failure Syndrome 2	Acute hepatic failure, Lethargy, Vomiting	OMIM:616483
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Feeding difficulties, Vomiting, Intrauterine growth retardation, Le...	ORPHA:2169
Holocarboxylase Synthetase Deficiency	Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Growth delay, Lethargy, Perioral eczema	ORPHA:79242
Glutaric Aciduria Iii	Hypertension, Diarrhea, Vomiting	OMIM:231690
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy...	ORPHA:85443
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Central Neurocytoma	Nausea and vomiting, Lethargy, Depression	ORPHA:73256
Trichohepatoenteric Syndrome 1	Villous atrophy, Short stature, Polyhydramnios, Intractable diarrhea, Intrauterine growth retarda...	OMIM:222470
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Inflammatory abnormality of the skin, Pneumonia, Pericardial effusion, Feeding difficulties, Ante...	ORPHA:26793
Trigonocephaly 1	High, narrow palate, Meckel diverticulum	OMIM:190440
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Lethargy, Diarrhea, Vomiting, Decreased liver function	ORPHA:42
Cholera	Achlorhydria, Abdominal pain, Diarrhea, Dehydration, Vomiting, Abdominal cramps, Aspiration pneum...	ORPHA:173
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
American Trypanosomiasis	Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Congestive heart fail...	ORPHA:3386
Isolated Agammaglobulinemia	Diarrhea, Short stature, Malabsorption	ORPHA:229717
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy, Feeding difficulties	OMIM:618232
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Complement Component 4B Deficiency	Chronic diarrhea	OMIM:614379
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Lethargy, Pancreatitis, Dehydration	ORPHA:27
Crigler-Najjar Syndrome	Lethargy, Infectious encephalitis	ORPHA:205
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy, Vomiting, Dysphagia	OMIM:607483
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abdominal distention, Chronic diarrhea, Bronchiectasis, Gastroesophageal reflux, Vomiting, Recurr...	OMIM:620233
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Arrhythmia	ORPHA:29822
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D...	ORPHA:67
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Dehydration, Tubulointerstitial nephritis, Vomiting, Lethargy, Pancreatitis	OMIM:251000
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Cleft palate, Ectopic anus, High p...	ORPHA:2059
Neu-Laxova Syndrome 1	Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Stillbirth, Shor...	OMIM:256520
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97261
Trichinellosis	Skin rash, Edema, Facial edema, Periorbital edema, Conjunctivitis, Apathy, Dysphagia, Lethargy, N...	ORPHA:863
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Lethargy	OMIM:608643
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Gastritis, Epistaxis, Abdominal pain, Hematemesis, Myo...	ORPHA:73263
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c...	ORPHA:65682
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Epis...	ORPHA:913
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Short stature, Pyloric stenosis, Gastr...	ORPHA:363705
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Short stature	OMIM:618120
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Aa Amyloidosis	Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Vomiting, Hypotension, Nausea	ORPHA:85445
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
Insulinoma	Lethargy, Zollinger-Ellison syndrome	ORPHA:97279
Scedosporiosis	Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, Endocarditis, Pleural em...	ORPHA:449280
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Bowel incontinence, Congestive heart failure, Gastrointestin...	ORPHA:330001
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy	OMIM:312170
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy	ORPHA:276608
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Fulminant hepatitis, Ulcerative c...	ORPHA:2137
Cutaneous Mastocytoma	Telangiectasia of the skin, Abdominal pain, Diarrhea, Vomiting, Hypotension, Nausea, Telangiectas...	ORPHA:79455
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Poor appetite, Diarrhea, Dilated cardiomyopathy, Dysphagia, Arrhythmia, Nausea	ORPHA:352447
Spastic Paraplegia 84, Autosomal Recessive	Crohn's disease	OMIM:619621
Serkal Syndrome	Growth delay, Malrotation of small bowel, Oligohydramnios	ORPHA:139466
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Gastrointestinal dysmotility, Intestinal malrotation, Duodenal atresia	OMIM:617798
Thrombotic Thrombocytopenic Purpura	Diarrhea, Arrhythmia, Myocardial infarction, Abdominal pain	ORPHA:54057
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Abdominal pain, Arthritis, Joint swelling, Apathy, Hepatocellular carcinoma, ...	ORPHA:465508
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, Constipation, E...	ORPHA:100924
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Lethargy, High palate, Feeding difficulties	OMIM:604377
Monosomy 13Q34	Epistaxis, Hematochezia, Growth delay, Prolonged prothrombin time, Pulmonic stenosis	ORPHA:96168
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea	OMIM:613501
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Stomach cancer, Re...	ORPHA:331235
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Bronchiectasis, Crohn's disease	OMIM:619705
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Congenital Toxoplasmosis	Intrauterine growth retardation, Diarrhea	ORPHA:858
Ogden Syndrome	Postnatal growth retardation, High, narrow palate, Lethargy	ORPHA:276432
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail...	ORPHA:100078
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Colonic Atresia	Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Cleft palate, Stillbirth, Duodenal atresia	OMIM:243605
Alg9-Cdg	Villous atrophy, Rhizomelia, Pericardial effusion, Diarrhea, Hydrops fetalis, Gastroesophageal re...	ORPHA:79328
Immunodeficiency 19	Chronic diarrhea	OMIM:615617
Hyperinsulinism Due To Ucp2 Deficiency	Lethargy, Feeding difficulties	ORPHA:276556
Carcinoid Syndrome	Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He...	ORPHA:100093
Combined Oxidative Phosphorylation Deficiency 11	Polyhydramnios, Feeding difficulties, Stillbirth, Decreased liver function, Neonatal death, Lethargy	OMIM:614922
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block, Abdominal pain, Encopresis, Diarrhea, G...	ORPHA:589821
Mednik Syndrome	Abnormal intestine morphology	ORPHA:171851
Parenteral Nutrition-Associated Cholestasis	Villous atrophy, Hepatic failure, Abdominal pain	ORPHA:567983
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Neoplasm of the rectum...	ORPHA:424016
Carnitine Palmitoyltransferase I Deficiency	Lethargy, Diarrhea, Feeding difficulties	OMIM:255120
Susac Syndrome	Nausea and vomiting, Lethargy, Apathy	ORPHA:838
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast...	ORPHA:3463
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Lethargy, Vomiting	OMIM:614299
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea	OMIM:619446
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97280
Plasminogen Deficiency, Type I	Conjunctivitis, Nephritis, Duodenal ulcer, Periodontitis	OMIM:217090
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Growth delay, Gastrointestinal inflammation	ORPHA:79410
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros...	ORPHA:809
Fabry Disease	Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea...	OMIM:301500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Lethargy, Feeding difficulties	ORPHA:276575
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Lethargy, Feeding difficulties	OMIM:250620
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Malabsorption, Abdominal pain, Pustule, Skin...	ORPHA:793
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Feeding difficulties in infancy, Diarrhea, Vomiting, Hypotension	OMIM:264350
Primary Biliary Cholangitis	Celiac disease, Abdominal distention, Hepatic failure, Hepatitis, Gastrointestinal inflammation, ...	ORPHA:186
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Lethargy, Feeding difficulties	ORPHA:276580
Hypothyroidism Due To Tsh Receptor Mutations	Edema, Feeding difficulties in infancy, Macroglossia, Constipation, Lethargy	ORPHA:90673
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperistalsis, Cryptorchidis...	ORPHA:2241
Bile Acid Synthesis Defect, Congenital, 2	Diarrhea, Hepatic failure, Steatorrhea	OMIM:235555
Congenital Disorder Of Glycosylation, Type Ii	Short stature, Diarrhea, Gastroesophageal reflux, High palate, Nasogastric tube feeding	OMIM:607906
Meningococcal Meningitis	Projectile vomiting, Skin rash, Anorexia, Lethargy, Infectious encephalitis	ORPHA:33475
Hyperinsulinism Due To Hnf1A Deficiency	Lethargy, Feeding difficulties	ORPHA:324575
Hjv Or Hamp-Related Hemochromatosis	Lethargy	ORPHA:79230
Celiac Disease, Susceptibility To, 1	Short stature, Eczema, Abdominal pain, Celiac disease, Postnatal growth retardation, Diarrhea, Ab...	OMIM:212750
Paroxysmal Nocturnal Hemoglobinuria 2	Diarrhea, Abdominal pain	OMIM:615399
Microform Holoprosencephaly	Intrauterine growth retardation, Short stature, Cleft palate, Duodenal atresia	ORPHA:280200
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Growth delay, Diarrhea, High palate	OMIM:614069
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Feeding difficulties in infancy, Depression, Growth delay, Macroglossia, Constipati...	ORPHA:90674
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Secretory diarrhea, Vomiting	OMIM:616069
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, Malabsorption, Protruding tongue, Diarrhea, Macroglossia	OMIM:242860
Congenital Tracheal Stenosis	Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Tracheoesophageal fistula, Oligohydra...	ORPHA:141127
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Hypertension, Mitral regurgitation	OMIM:173900
Developmental And Epileptic Encephalopathy 41	Lethargy, Feeding difficulties	OMIM:617105
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Growth delay, Severe intrauterine growth retardation, Intrauterine gro...	OMIM:614114
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Skin rash, Abdominal pain, Myocarditis, Lethargy, Infectio...	ORPHA:83317
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Myocardial infarction, S...	ORPHA:36426
Alobar Holoprosencephaly	Short stature, Dysphagia, Cleft palate, Growth delay, Feeding difficulties, Depression, Gastroeso...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Dysphagia, Cleft palate, Growth delay, Feeding difficulties, Depression, Gastroeso...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Dysphagia, Cleft palate, Growth delay, Feeding difficulties, Depression, Gastroeso...	ORPHA:93924
Semilobar Holoprosencephaly	Short stature, Dysphagia, Cleft palate, Growth delay, Feeding difficulties, Depression, Gastroeso...	ORPHA:220386
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp...	OMIM:175050
Familial Adenomatous Polyposis 4	Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma	OMIM:617100
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Lethargy, Short stature, Anorexia	OMIM:611590
Hyaline Fibromatosis Syndrome	Diarrhea	OMIM:228600
Fanconi Anemia, Complementation Group F	Short stature, Pneumonia, Polyhydramnios, Intrauterine growth retardation, Duodenal atresia	OMIM:603467
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Postnatal growth retardation, Steatorrhea, Fat malabsorption, Hepatic failure	ORPHA:79303
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Feeding difficulties	OMIM:618183
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia	ORPHA:79095
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, Growth delay, Intermittent diarrhea, Focal active colitis	OMIM:616433
Hyperzincemia With Functional Zinc Depletion	Diarrhea, Vasculitis	OMIM:601979
Irida Syndrome	Abnormal intestine morphology	ORPHA:209981
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Microcolon	OMIM:619362
Vipoma	Nausea and vomiting, Anorexia, Malabsorption, Poor appetite, Secretory diarrhea, Episodic abdomin...	ORPHA:97282
Biotinidase Deficiency	Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Dia...	OMIM:253260
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Postnatal growth retardation, Diarrhea, Malnutrition, Depression, Fat malabsorption	ORPHA:96180
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Feeding difficulties in infancy, Lethargy, Vomiting	OMIM:210200
Feingold Syndrome Type 1	Jejunal atresia, Short stature, Esophageal atresia, Gastrointestinal atresia, Nephritis, Anal atr...	ORPHA:391641
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Paralytic ileus, Growth delay, Melena, Prolon...	OMIM:276700
Peutz-Jeghers Syndrome	Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi...	OMIM:175200
Immunodeficiency 58	Helicobacter pylori infection, Recurrent cutaneous abscess formation, Short stature, Eczema, Alle...	OMIM:618131
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Feeding difficulties in infancy, Diarrhea, Narrow palate, High palate, Vomiting, Lethargy, Oligoh...	OMIM:608836
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Lethargy	OMIM:236270
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma...	ORPHA:537
Mosaic Variegated Aneuploidy Syndrome 1	Short stature, Postnatal growth retardation, Feeding difficulties in infancy, Oligohydramnios, Cl...	OMIM:257300
Restrictive Dermopathy	Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o...	ORPHA:1662
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Inflammation of the large intestine, Colitis	OMIM:619281
Immunodeficiency 69	Diarrhea	OMIM:618963
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Hypotension, Feeding difficulties	OMIM:177735
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Hereditary Fructose Intolerance	Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Constipation, Vomiting, Chronic hep...	ORPHA:469
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Lethargy	OMIM:619064
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Large placenta, Polyhydramnios, Intrauterine growth retardation	ORPHA:254528
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Proportionate short stature, Feeding difficulties in infancy, Diarrhea, Vo...	ORPHA:71212
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Vomiting, Nasogastric tube feeding	ORPHA:289504
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Myocardial infarction, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic...	ORPHA:90038
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Skin rash, Diarrhea, Vomiting, Lethargy, Episodic vomiting, Cerebral edema	OMIM:618321
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Polyhydramnios, Edema, Recurrent pneumonia, Feeding difficulties, Lethargy, Poor suck	OMIM:607143
Hereditary Hyperekplexia	Gastroesophageal reflux, Esophagitis, Hiatus hernia	ORPHA:3197
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer	OMIM:613244
Cog8-Cdg	Protein-losing enteropathy	ORPHA:95428
Jacobsen Syndrome	Bipolar affective disorder, Short stature, Intestinal malrotation, Eczema, Feeding difficulties i...	ORPHA:2308
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Lethargy, Diarrhea, Short stature, Poor appetite	OMIM:201100
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Xerostomia, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, L...	ORPHA:398069
Isolated Atp Synthase Deficiency	Lethargy, Short stature	ORPHA:254913
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard...	OMIM:620133
Multifocal Atrial Tachycardia	Feeding difficulties in infancy, Lethargy	ORPHA:3282
Autosomal Dominant Progressive External Ophthalmoplegia	Bipolar affective disorder, Gastroparesis, Edema, Depression, Bradykinesia, Constipation, Gastroe...	ORPHA:254892
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Lethargy, Diarrhea, Vomiting	ORPHA:263455
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea, High palate	OMIM:300215
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Medulloblastoma	Nausea and vomiting, Lethargy, Adenomatous colonic polyposis	ORPHA:616
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Steatorrhea	OMIM:619481
Familial Mediterranean Fever	Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Episodic abdominal pain, Chronic c...	OMIM:249100
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematemesis, Diarrhea, Vasculitis, Bloody diarrhea, Hematochezia, Hypertensio...	OMIM:615846
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Short stature, Polyhydramnios, Increased nuchal translucency, Cleft palate,...	ORPHA:1052
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Myocardial ...	ORPHA:91139
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Diarrhea, Growth delay, Hy...	OMIM:223900
20Q13.33 Microdeletion Syndrome	Hematochezia, Growth delay	ORPHA:261311
Familial Hypoaldosteronism	Nausea and vomiting, Diarrhea, Feeding difficulties, Growth delay, Lethargy	ORPHA:427
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Rhizomelia, Diarrhea, Severe short-limb dwarfism, Hypertrophic cardiomyopathy	ORPHA:1842
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Poor appetite, Heart block, Diarrhea, Capillary leak, Reduced left ventricular eject...	ORPHA:542323
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Diarrhea	OMIM:601457
Renal Hypoplasia, Bilateral	Short stature, Edema, Feeding difficulties, Growth delay, Lethargy, Oligohydramnios	ORPHA:97362
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Methylmalonic Aciduria, Cblb Type	Feeding difficulties in infancy, Lethargy, Vomiting, Dehydration	OMIM:251110
Relapsing Fever	Abnormal bleeding, Tachycardia, Epistaxis, Abdominal pain, Diarrhea, Prolonged prothrombin time, ...	ORPHA:91547
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Anorexia, Edema, Reye syndrome-like episodes, Diarrhea, Dehydration, Apathy, ...	ORPHA:20
Cog4-Cdg	Fatal liver failure in infancy, Feeding difficulties, Growth delay, Intermittent diarrhea, Recurr...	ORPHA:263501
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia	ORPHA:79101
Staphylococcal Necrotizing Pneumonia	Pneumonia, Acute infectious pneumonia, Pleural empyema, Lethargy, Pleural effusion	ORPHA:36238
Immunodeficiency 89 And Autoimmunity	Bronchiectasis, Crohn's disease	OMIM:619632
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Vasculitis, Petechiae	OMIM:603909
Adiposis Dolorosa	Telangiectasia of the skin, Diarrhea, Xerostomia, Constipation, Bruising susceptibility	ORPHA:36397
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Anorexia, Abdominal pain, Malabsorptio...	ORPHA:79430
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Caspase 8 Deficiency	Chronic diarrhea, Short stature	OMIM:607271
Familial Pancreatic Carcinoma	Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ...	ORPHA:1333
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Esophageal varix, Portal hypertension	ORPHA:974
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Lethargy, Feeding difficulties	OMIM:605711
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea	OMIM:612692
Trichothiodystrophy 3, Photosensitive	Short stature, Pyloric stenosis, Feeding difficulties, Intrauterine growth retardation, Meckel di...	OMIM:616395
Lassa Fever	Abnormal bleeding, Shock, Nausea and vomiting, Abdominal pain, Diarrhea, Dysphagia	ORPHA:99824
Immunodeficiency 17	Eczema, Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroent...	OMIM:615607
Hereditary Folate Malabsorption	Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Glossitis	ORPHA:90045
Immunodeficiency 15B	Chronic diarrhea	OMIM:615592
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding dif...	OMIM:613489
Holocarboxylase Synthetase Deficiency	Feeding difficulties in infancy, Lethargy, Vomiting, Skin rash	OMIM:253270
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Oligohydramnios, Feeding difficulties, Birth length less than 3rd percentile, Gas...	ORPHA:464311
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia...	ORPHA:247691
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Post-partum hemorrhage, Melena, Oral cavity bleeding, Gingival bleeding	ORPHA:98870
Cholestasis, Progressive Familial Intrahepatic, 3	Diarrhea, Malabsorption	OMIM:602347
Shigellosis	Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Ulcerative colitis, B...	ORPHA:810
Immunodeficiency 46	Chronic diarrhea	OMIM:616740
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Diarrhea, Pulmonary insufficiency	ORPHA:277
Alg8-Cdg	Abnormality of the gastrointestinal tract, Diarrhea, Feeding difficulties, Macroglossia, Vomiting...	ORPHA:79325
Acquired Hypertrichosis Lanuginosa	Macroglossia, Chronic diarrhea, Glossitis, Poor appetite	ORPHA:2221
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R...	ORPHA:51636
Yao Syndrome	Pericarditis, Xerostomia, Diarrhea, Abdominal pain	OMIM:617321
Dyrk1A-Related Intellectual Disability Syndrome	Short stature, Eczema, Pyloric stenosis, Oligohydramnios, Feeding difficulties, Gastroesophageal ...	ORPHA:464306
Miller-Dieker Lissencephaly Syndrome	Polyhydramnios, Cleft palate, Intrauterine growth retardation, Recurrent aspiration pneumonia, Du...	OMIM:247200
Carnitine Palmitoyl Transferase 1A Deficiency	Lethargy, Hepatic failure	ORPHA:156
Houge-Janssens Syndrome 1	Pyloric stenosis, Chronic diarrhea, Intrauterine growth retardation	OMIM:616355
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea, Bruising susceptibility, Bleeding requiring red cell transfusion	OMIM:619484
Autosomal Agammaglobulinemia	Diarrhea, High palate, Malabsorption	ORPHA:33110
Ethylmalonic Encephalopathy	Diarrhea, Petechiae	ORPHA:51188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Ileal atresia, Peritonitis, Bidirectional shunt, Elevated pulmonary artery pressure, Microcolon	OMIM:619351
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Gastroint...	ORPHA:761
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Dehydration, Depre...	ORPHA:652
Boutonneuse Fever	Abdominal pain, Diarrhea, Vasculitis, Nausea, Petechiae	ORPHA:83313
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, High, narrow palate, Feeding difficulties, Hematochezia, Chronic constipation	OMIM:619575
Fg Syndrome Type 1	Short stature, Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Crypt...	ORPHA:93932
Immunodeficiency, Common Variable, 2	Diarrhea	OMIM:240500
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Diarrhea, Gastritis	ORPHA:2575
Pseudo-Torch Syndrome 2	Lethargy, Pleural effusion, Ascites	OMIM:617397
Intellectual Developmental Disorder, Autosomal Dominant 51	Chronic constipation, Chronic diarrhea, Poor suck, Feeding difficulties	OMIM:617788
Citrullinemia, Classic	Protein avoidance, Lethargy, Vomiting, Cerebral edema	OMIM:215700
Methylmalonic Aciduria, Cbla Type	Feeding difficulties in infancy, Lethargy, Vomiting, Dehydration	OMIM:251100
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption, Hepatic failure	ORPHA:79302
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Arrhythmia, Dilated cardiomyopathy, Nausea	OMIM:615084
Immunodeficiency 55	Postnatal growth retardation, Intrauterine growth retardation, Diarrhea, Short stature	OMIM:617827
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Myocardial infa...	ORPHA:342
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Abdominal pain, Protein avoidance, Vomiting, Lethargy, Cerebral edema	OMIM:311250
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Skin rash, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, I...	OMIM:301074
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Lethargy	OMIM:615838
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Ent...	ORPHA:90051
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Chronic diarrhea	OMIM:615285
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hydrops fetalis, Dehydration, Feeding difficulties, Growth delay, Stomatitis, Intrauterine growth...	ORPHA:79282
Cholesteryl Ester Storage Disease	Acute hepatic failure, Portal hypertension, Diarrhea, Esophageal varix, Vomiting, Protuberant abd...	OMIM:278000
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Macroglossia, Chronic diarrhea	OMIM:618523
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Lethargy, Feeding difficulties, Vomiting, Seborrheic dermatitis	OMIM:210210
Cold Agglutinin Disease	Nausea and vomiting, Diarrhea	ORPHA:56425
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Polyhydramnios, Esophageal atresia, Cleft palate, ...	OMIM:229850
Immunodeficiency 92	Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Esophagitis	OMIM:619652
Immunodeficiency, Common Variable, 7	Chronic diarrhea	OMIM:614699
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Diarrhea, Recurrent aphthous stomatitis	OMIM:150550
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Peri...	OMIM:235510
Galactosemia I	Diarrhea, Vomiting, Decreased liver function	OMIM:230400
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Growth delay, Colitis, Steatorrhea, Exocrine panc...	ORPHA:309031
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Feeding difficultie...	ORPHA:512
Posterior Urethral Valve	Postnatal growth retardation, Lethargy, Pyelonephritis, Oligohydramnios	ORPHA:93110
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea	ORPHA:33276
Hypothyroidism, Congenital, Nongoitrous, 2	Feeding difficulties in infancy, Abdominal distention, Growth delay, Macroglossia, Constipation, ...	OMIM:218700
Mitochondrial Trifunctional Protein Deficiency 1	Lethargy, Hydrops fetalis, Feeding difficulties	OMIM:609015
Sim1-Related Prader-Willi-Like Syndrome	Lethargy, Xerostomia, Nasogastric tube feeding	ORPHA:398079
Pancreatoblastoma	Abdominal distention, Diarrhea, Vomiting, Abdominal pain	ORPHA:677
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar...	ORPHA:900
Evans Syndrome	Lethargy	ORPHA:1959
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Angina pectoris, Short stature, Abnormal large intestine morphology, Cachex...	ORPHA:109
Transcobalamin Ii Deficiency	Lethargy, Diarrhea, Vomiting	OMIM:275350
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Polyhydramnios, Lymphedema, Abdominal distention, Cleft palate, High palate, Protein-losing enter...	OMIM:235255
Triokinase And Fmn Cyclase Deficiency Syndrome	Chronic diarrhea, Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Oculoskeletodental Syndrome	Macroglossia, Protein-losing enteropathy, Short stature	OMIM:618440
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Polyhydramnios, Postnatal growth retardation, Abdominal distention, High palate, Protein-losing e...	ORPHA:1655
Cat Eye Syndrome	Anal stenosis, Short stature, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palat...	OMIM:115470
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Pericarditis, Maculopapular exanthema, Skin rash, Anor...	ORPHA:99826
Kagami-Ogata Syndrome	Large placenta, Premature birth, Polyhydramnios	ORPHA:254519
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Ileus, Constipation, Arrhythmia, Microcolon	ORPHA:163746
Encephalopathy, Ethylmalonic	Chronic diarrhea, Petechiae, Feeding difficulties	OMIM:602473
Argininosuccinic Aciduria	Feeding difficulties in infancy, Protein avoidance, Vomiting, Lethargy, Cerebral edema	OMIM:207900
Immunodeficiency 27A	Diarrhea, Anorexia	OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Diarrhea, Anorexia, Protracted diarrhea	ORPHA:169160
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Short stature, Postnatal growth retardation, Diarrhea, Hepatocellular adenoma, Vomiting, Hepatoce...	ORPHA:79240
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom...	ORPHA:100085
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,...	ORPHA:565
Holoprosencephaly 13, X-Linked	Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal...	OMIM:301043
Feingold Syndrome 1	Jejunal atresia, Polyhydramnios, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal ...	OMIM:164280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Intestinal malrotation, Polyhydramnios, Nonimmune hydrops fetalis, Esophageal atresia, Tracheoeso...	OMIM:265380
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Severe short stature, Telangiectasia of the skin, Mala...	ORPHA:2176
Medullary Thyroid Carcinoma	Diarrhea, Dysphagia	ORPHA:1332
Diets-Jongmans Syndrome	Feeding difficulties in infancy, Short stature, Polyhydramnios, Duodenal atresia	OMIM:618846
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Anal fissure, Glomerulonephritis, Malnutrition, Gastrointestinal infla...	ORPHA:79408
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Short stature, Furrowed tongue, Feeding difficulties, High palate, Gastroesophageal reflux, Intra...	OMIM:616975
Mosaic Trisomy 16	Large placenta, Single umbilical artery, Premature birth, Intrauterine growth retardation	ORPHA:1708
Lujo Hemorrhagic Fever	Shock, Excessive bleeding after a venipuncture, Myocarditis, Odynophagia, Fulminant hepatitis, Di...	ORPHA:319213
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Short stature, Diarrhea, Esophageal varix, Hepatocellular adenoma, Growth delay, Cardiomyopathy, ...	ORPHA:264580
Systemic Capillary Leak Syndrome	Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Hypotension, Arrhythmia	ORPHA:188
Greenberg Dysplasia	Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha...	OMIM:215140
Pachydermoperiostosis	Gastrointestinal hemorrhage, Peptic ulcer, Malabsorption	ORPHA:2796
Lysinuric Protein Intolerance	Glomerulonephritis, Diarrhea, Feeding difficulties, Tubulointerstitial nephritis, Membranous neph...	ORPHA:470
Immunodeficiency, Common Variable, 1	Diarrhea	OMIM:607594
Cholestasis, Progressive Familial Intrahepatic, 9	Diarrhea, Portal hypertension	OMIM:619849
Tarp Syndrome	Cleft palate, Tongue nodules, Glossoptosis, High palate, Hepatic failure, Neonatal death, Intraut...	OMIM:311900
Focal Dermal Hypoplasia	Acute hepatic failure, Abdominal pain, Gastroesophageal reflux, Duodenal atresia	ORPHA:2092
Isolated Complex I Deficiency	Intrauterine growth retardation, Vomiting, Lethargy, Feeding difficulties	ORPHA:2609
Intussusception	Intussusception	OMIM:147710
Middle Ear Neuroendocrine Tumor	Chronic diarrhea	ORPHA:100084
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Growth delay, Feeding difficulties in infancy, Inflammation of the large intestine, Chronic diarrhea	ORPHA:98813
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Diarrhea	ORPHA:90035
Isolated Posterior Meningocele	Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele	ORPHA:268810
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag...	ORPHA:99827
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Adenomatous colonic polyposis, Esophageal carcinoma, Multiple gastric polyps,...	ORPHA:247806
Pediatric-Onset Graves Disease	Nausea and vomiting, Atrial fibrillation, Congestive heart failure, Diarrhea, Hypertension, Palpi...	ORPHA:525731
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Feeding difficulties in infancy, Cleft palate, High palate, Intrauterine growth ...	OMIM:614866
Kufor-Rakeb Syndrome	Bowel incontinence, Bradykinesia, Apathy, Dysphagia, Lethargy	ORPHA:306674
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Anorexia, P...	ORPHA:117
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Diarrhea	OMIM:618495
Encephalitis Lethargica	Lethargy, Bowel incontinence	ORPHA:83600
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Diarrhea, Prolonged prothrombin ti...	ORPHA:247598
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom...	ORPHA:486
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist...	ORPHA:2538
Shwachman-Diamond Syndrome 2	Short stature, Diarrhea, Prolonged prothrombin time, High palate, Steatorrhea, Exocrine pancreati...	OMIM:617941
Blue Diaper Syndrome	Diarrhea	ORPHA:94086
Mucopolysaccharidosis, Type Ii	Severe short stature, Intestinal pseudo-obstruction, Short stature, Congestive heart failure, Dia...	OMIM:309900
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Growth delay, Diarrhea, Vomiting	ORPHA:3240
Congenital Disorder Of Glycosylation, Type Iil	Abnormal bleeding, Chronic diarrhea, Esophageal varix, Growth delay, Inflammation of the large in...	OMIM:614576
X-Linked Agammaglobulinemia	Glossoptosis, Chronic diarrhea, Short stature, Malabsorption	ORPHA:47
Hypoplasminogenemia	Cervicitis, Duodenal ulcer, Periodontitis	ORPHA:722
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Abdominal pain, Hematemesis, Internal hemorrhage, Diarrhea, Capill...	ORPHA:340
Acute Intermittent Porphyria	Nausea and vomiting, Tachycardia, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Hyperten...	ORPHA:79276
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Facial edema, Feeding difficulties in infancy, Growth delay, Macroglossia, Co...	ORPHA:226307
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia	OMIM:226730
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Bowel urgency, Poor appetite, Anorexia, Right ventricular failure, Protr...	ORPHA:97287
Alg3-Cdg	Neural tube defect	ORPHA:79321
Gardner Syndrome	Duodenal polyposis, Ampulla of Vater carcinoma, Adenomatous colonic polyposis, Esophageal carcino...	ORPHA:79665
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Pneumonia, Anorexia, Oral-phar...	ORPHA:95455
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Malnutrition, Vomiting, Lethargy, Nausea	OMIM:229600
Resistance To Thyrotropin-Releasing Hormone Syndrome	Growth delay, Lethargy, Depression	ORPHA:99832
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Abdominal pain,...	ORPHA:90068
Distal Deletion 12Q	Late onset atopic dermatitis, Short stature, High, narrow palate, Esophageal atresia, Pyloric ste...	ORPHA:96149
Acrodermatitis Enteropathica	Short stature, Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Glossitis	ORPHA:37
Congenital Myopathy 20	Chronic diarrhea, High palate	OMIM:620310
Inhalational Anthrax	Vomiting, Internal hemorrhage, Hypotension, Abnormal sweat gland morphology	ORPHA:247257
Meckel Syndrome, Type 1	Occipital encephalocele, Large placenta, Hydrocephalus, Breech presentation, Anencephaly, Single ...	OMIM:249000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Vomiting	OMIM:560000
B4Galt1-Cdg	Abnormal bleeding, Diarrhea	ORPHA:79332
Postinfectious Vasculitis	Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ...	ORPHA:48435
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, High pala...	ORPHA:261584
Lysosomal Acid Lipase Deficiency	Nausea and vomiting, Fatal liver failure in infancy, Abdominal pain, Abdominal distention, Diarrh...	ORPHA:275761
19P13.13 Microdeletion Syndrome	Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult...	ORPHA:357001
Legionnaires Disease	Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Myocarditis, Diarrhea, Hypotension, ...	ORPHA:549
Infection-Related Hemolytic Uremic Syndrome	Hypertensive crisis, Nausea, Abdominal pain, Intestinal perforation, Myocarditis, Diarrhea, Secre...	ORPHA:544482
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Short stature, Sudden cardiac death, Dilated cardiomyopathy, Chronic diarrhea, Cleft...	OMIM:614921
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Pneumonia, Edema, Esophageal stricture, Malnutrition, Dehydration, Gas...	ORPHA:79404
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Aganglionic megacolon, Intestinal malrotation, ...	ORPHA:567
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B...	ORPHA:436252
Mirage Syndrome	Short stature, Esophageal stricture, Chronic diarrhea, Intracranial hemorrhage, Gastroesophageal ...	OMIM:617053
Mucopolysaccharidosis, Type Iiic	Diarrhea, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Histiocytoid Cardiomyopathy	Lethargy, Vomiting, Cleft palate, Pulmonary edema	ORPHA:137675
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Esophageal varix, Feeding d...	ORPHA:731
Iniencephaly	Polyhydramnios, Rhizomelia, Anal atresia, Duodenal atresia	ORPHA:63259
Acute Radiation Syndrome	Abnormal bleeding, Diarrhea, Telangiectasia, Vomiting, Hypotension	ORPHA:454831
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation	OMIM:608654
Acute Liver Failure	Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Diarrhea, Intracranial hemorrhage, Prolong...	ORPHA:90062
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Polyhydramnios, Abdominal distention, Hepatic failure, Intrauterine growth retardation, Ascites, ...	OMIM:617156
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Diarrhea, Chronic diarrhea, Abdominal pain	OMIM:617099
Familial Adenomatous Polyposis 1	Duodenal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Desmoid tumors, Small...	OMIM:175100
Diarrhea 1, Secretory Chloride, Congenital	Growth delay, Abdominal distention, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage	ORPHA:49566
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Pustule, Vomiting, Lethargy, Infectious encephalitis, Nausea, Cerebral edema	ORPHA:68
Severe Combined Immunodeficiency, X-Linked	Chronic diarrhea	OMIM:300400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Protein avoidance, Hepatitis, Feeding difficulties, Decreased liver function, Lethargy, Hepatic f...	ORPHA:415
Mitochondrial Trifunctional Protein Deficiency	Feeding difficulties in infancy, Lethargy, Poor suck, Chronic hepatic failure	ORPHA:746
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi...	OMIM:301000
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Cardiac conductio...	ORPHA:2131
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Intrauterine growth retardation, Severe short stature, Eczema, Duodenal atresia	ORPHA:468631
Glycerol Kinase Deficiency	Short stature, Chronic pancreatitis, Growth delay, Lethargy, Episodic vomiting	OMIM:307030
Colchicine Poisoning	Congestive heart failure, Diarrhea, Myocarditis, Hypovolemia, Vomiting, Hypotension, Cardiogenic ...	ORPHA:31824
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Failure to thrive, Intestinal malrotation, Pulmonic stenosis, Colon perforati...	OMIM:600001
Immunodeficiency 59 And Hypoglycemia	Short stature, Malabsorption, Chronic diarrhea, High palate, Arteritis, Recurrent aphthous stomat...	OMIM:233600
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Spondyloocular Syndrome	Duodenal ulcer, Short stature, Lymphedema	OMIM:605822
Mucopolysaccharidosis, Type Iiib	Diarrhea, Asymmetric septal hypertrophy	OMIM:252920
Familial Adenomatous Polyposis	Cholangiocarcinoma, Duodenal polyposis, Stomach cancer, Adenomatous colonic polyposis, Multiple g...	ORPHA:733
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Lethargy, Episodic vomiting	OMIM:615751
Immunodeficiency 56	Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic failure	OMIM:615207
Dpm1-Cdg	High, narrow palate, Diarrhea, Gastrostomy tube feeding in infancy	ORPHA:79322
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv...	ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 1	Feeding difficulties in infancy, Growth delay, Vomiting, Lethargy, Hepatic failure, Cerebral edema	OMIM:252010
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Short stature, Epistaxis, Diarrhea, Prolonged bleeding following procedure, He...	ORPHA:79259
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea	OMIM:618050
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Abdominal pain, Raynaud phenomenon, Abdominal distenti...	ORPHA:93552
Amyloidosis, Hereditary, Transthyretin-Related	Diarrhea, Cardiomyopathy, Constipation, Episodic vomiting, Orthostatic hypotension due to autonom...	OMIM:105210
Immunodeficiency 7	Diarrhea	OMIM:615387
Melas	Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Short stature, Cardiac conduction ...	ORPHA:550
Mucopolysaccharidosis, Type Iiia	Diarrhea, Asymmetric septal hypertrophy	OMIM:252900
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Constipation, High palate	OMIM:162300
Immunodeficiency 97 With Autoinflammation	Diarrhea, Colitis, Enterocolitis, Abdominal pain	OMIM:619802
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea	ORPHA:411703
Restrictive Dermopathy 1	Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Polyhydramnios,...	OMIM:275210
Familial Glucocorticoid Deficiency	Anorexia, Diarrhea, Episodic abdominal pain, Constipation, Vomiting, Hypotension, Hypertrophic ca...	ORPHA:361
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy	OMIM:212138
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Esophageal varix, Hypertension, Neonatal death	OMIM:263200
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Pericarditis, Abdominal pain, Diarrhea, Vasculitis, Peritonitis, Constipa...	ORPHA:32960
Turner Syndrome Due To Structural X Chromosome Anomalies	Short stature, Lymphedema, Celiac disease, High, narrow palate, Postnatal growth retardation, Thy...	ORPHA:99413
Mosaic Monosomy X	Short stature, Lymphedema, Celiac disease, High, narrow palate, Postnatal growth retardation, Thy...	ORPHA:99228
Monosomy X	Short stature, Lymphedema, Celiac disease, High, narrow palate, Postnatal growth retardation, Thy...	ORPHA:99226
Turner Syndrome	Short stature, Lymphedema, Celiac disease, High, narrow palate, Postnatal growth retardation, Thy...	ORPHA:881
Carnitine-Acylcarnitine Translocase Deficiency	Lethargy, Hepatic failure	ORPHA:159
Trichothiodystrophy 5, Nonphotosensitive	Intrauterine growth retardation, Chronic diarrhea, Short stature	OMIM:300953
Serotonin Syndrome	Tachycardia, Diarrhea, Hypertension, Hypotension, Hepatic failure, Nausea	ORPHA:43116
Immunodeficiency, Common Variable, 14	Chronic diarrhea	OMIM:617765
Glycogen Storage Disease Ia	Abnormal bleeding, Short stature, Hepatocellular carcinoma, Growth delay, Hypertension, Protubera...	OMIM:232200
Diamond-Blackfan Anemia	Short stature, Cleft soft palate, Nonimmune hydrops fetalis, Growth delay, High palate, Adenocarc...	ORPHA:124
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Lip telangiectasia, Palmar telangiectasia, Steat...	OMIM:613471
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Small vessel vasculitis, Diarrhea, Abdominal pain	ORPHA:36412
Dyskeratosis Congenita, Autosomal Dominant 2	Short stature, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Oral leukoplakia	OMIM:613989
Congenital Disorder Of Glycosylation, Type Im	Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia	OMIM:610768
Immunodeficiency 22	Pericarditis, Capillary leak, Diarrhea, Protracted diarrhea	OMIM:615758
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Abdominal pain, Myocarditis, Diarrhea, Peritonitis, Capillary leak, Vomiting,...	ORPHA:36234
Malakoplakia	Abnormal bleeding, Abdominal pain, Diarrhea, Neoplasm of the rectum, Neoplasm of the colon	ORPHA:556
Dominant Beta-Thalassemia	Hepatocellular carcinoma, High-output congestive heart failure, Diarrhea, Dilated cardiomyopathy,...	ORPHA:231226
Fructose-1,6-Bisphosphatase Deficiency	Lethargy	OMIM:229700
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Intermittent diarrhea, Pulmonary hemorrhage	OMIM:619644
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Abdominal pain	ORPHA:54251
Acute Adrenal Insufficiency	Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Myocardial infarction, Di...	ORPHA:95409
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Short stature, Retinal telangiectasia, Postnatal growth retardation, Intestinal bleeding, Intraut...	OMIM:612199
Specific Granule Deficiency 2	Intractable diarrhea	OMIM:617475
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Diarrhea, Malabsorption	OMIM:240300
Immunodeficiency 9	Stomatitis, Chronic diarrhea, Recurrent aphthous stomatitis	OMIM:612782
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Recurrent infection of the gastrointestinal tract, Protracted diarrhea	ORPHA:572
Dextrocardia	Meckel diverticulum, Intestinal malrotation	ORPHA:1666
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Diarrhea, Syncope, Vomiting, Orthostatic syncope	ORPHA:230
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Syncope, Hypotension, Nausea	ORPHA:98849
Biotinidase Deficiency	Skin rash, Lethargy, Eczematoid dermatitis, Conjunctivitis	ORPHA:79241
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Short stature, Portal hypertension, Feeding difficulties in infancy, Chronic diarrhea, Gastroesop...	OMIM:613385
Proximal Renal Tubular Acidosis	Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Hypovolemia, Growth de...	ORPHA:47159
Yellow Fever	Abnormal bleeding, Shock, Nausea, Abdominal pain, Hematemesis, Excessive bleeding after a venipun...	ORPHA:99829
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipation, Gastroeso...	ORPHA:500055
Agammaglobulinemia 8B, Autosomal Recessive	Chronic diarrhea	OMIM:619824
Multiple Endocrine Neoplasia, Type I	Diarrhea, Zollinger-Ellison syndrome, Peptic ulcer, Esophagitis	OMIM:131100
Avian Influenza	Congestive heart failure, Diarrhea, Vomiting, Abdominal pain	ORPHA:454836
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Lethargy	OMIM:277410
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture	OMIM:225400
Neuroblastoma, Susceptibility To, 1	Hypertension, Diarrhea, Abdominal pain	OMIM:256700
Fructose-1,6-Bisphosphatase Deficiency	Reye syndrome-like episodes, Tachycardia, Vomiting, Diarrhea	ORPHA:348
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Feeding difficulties in infancy, Lethargy	ORPHA:395
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Lethargy, Feeding difficulties	OMIM:201470
Heterotaxy, Visceral, 5, Autosomal	Intrauterine growth retardation, Intestinal malrotation, Duodenal atresia	OMIM:270100
Lysinuric Protein Intolerance	Short stature, Protein avoidance, Diarrhea, Malnutrition, Vomiting, Nausea, Pulmonary hemorrhage	OMIM:222700
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Ascites	OMIM:200995
Mucopolysaccharidosis, Type Iiid	Short stature, Diarrhea, Dysphagia, Asymmetric septal hypertrophy, Macroglossia, Mitral regurgita...	OMIM:252940
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Portal hypertension, Diarrhea, Recurrent gastroenteritis, Chronic hepatic failure, Pulmonary hemo...	ORPHA:79124
Beta-Ketothiolase Deficiency	Anorexia, Diarrhea, Hypertension, Vomiting, Hypotension	ORPHA:134
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Short stature, Malabsorption, Chronic diarrhea, Telangiectasia	OMIM:601675
Immunodeficiency 36 With Lymphoproliferation	Growth delay, Chronic diarrhea, Short stature	OMIM:616005
Beta-Thalassemia Major	Hepatocellular carcinoma, High-output congestive heart failure, Diarrhea, Dilated cardiomyopathy,...	ORPHA:231214
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Diarrhea	OMIM:619313
Neurodegeneration And Seizures Due To Copper Transport Defect	Lethargy	OMIM:620306
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Short stature, Reye syndrome-like episodes, Abdominal distention, Diarrhea...	OMIM:256810
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Esophage...	ORPHA:480520
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Premature birth, Polyhydramnios, Large placenta, Spinal dysraphism, Intrauterine growth retardation	ORPHA:96334
Kindler Epidermolysis Bullosa	Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ...	ORPHA:2908
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Sinusitis, Short stature, Eczema, Pneumonia, Skin rash...	ORPHA:811
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Short stature, Diarrhea, Cleft palate, Intrauterine g...	OMIM:251260
Mevalonic Aciduria	Diarrhea, Short stature, Vomiting	OMIM:610377
Cerebrotendinous Xanthomatosis	Diarrhea, Pseudobulbar paralysis, Angina pectoris, Myocardial infarction	OMIM:213700
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Polyhydramnios, Anal atresia, Duodenal atresia	OMIM:306955
Plague	Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Enterocolitis, B...	ORPHA:707
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Feeding difficulties in infancy, Lethargy	OMIM:277400
Hydranencephaly	Postnatal growth retardation, Intrauterine growth retardation, Lethargy	ORPHA:2177
Hardikar Syndrome	Short stature, Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, He...	OMIM:301068
Complete Atrioventricular Septal Defect	Lethargy, Recurrent pneumonia, Feeding difficulties	ORPHA:1329
Tarp Syndrome	Cleft palate, Glossoptosis, Abnormal duodenum morphology, Intrauterine growth retardation, Tongue...	ORPHA:2886
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Secretory diarrhea	OMIM:614441
Paroxysmal Nocturnal Hemoglobinuria	Esophageal spasms, Odynophagia, Episodic abdominal pain, Dysphagia, Lethargy	ORPHA:447
Immunodeficiency 25	Protracted diarrhea	OMIM:610163
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Infancy onset short-trunk short stature, Short stature, Feeding diff...	ORPHA:508488
Reactive Arthritis	Aortic regurgitation, Pericarditis, Abdominal pain, Diarrhea, Inflammation of the large intestine...	ORPHA:29207
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Malabsorption, Ileus, Secretory diarrhea, Colitis, Abnormal intestine morphology, Vomi...	ORPHA:37042
Addison Disease	Nausea and vomiting, Orthostatic hypotension, Anorexia, Abdominal pain, Celiac disease, Diarrhea,...	ORPHA:85138
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Diarrhea, Short stature, Delayed puberty	OMIM:307200
Cystic Fibrosis	Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Steatorrhea, Exocrine pancreatic insufficiency	OMIM:219700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Colitis	OMIM:301220
Cockayne Syndrome Type 1	Postnatal growth retardation, Hypertension, Diarrhea	ORPHA:90321
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abdominal pain	ORPHA:538
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Tracheoesophageal fistula, Gastroesophageal reflux, Rectova...	OMIM:107480
Mucoepithelial Dysplasia, Hereditary	Melena, Chronic diarrhea, Corneal neovascularization, Furrowed tongue	OMIM:158310
Combined Immunodeficiency Due To Zap70 Deficiency	Stomatitis, Chronic diarrhea, Colitis, Recurrent infection of the gastrointestinal tract	ORPHA:911
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Recurrent infection of the gastrointestinal tract, Malabsorption	ORPHA:83471
Charge Syndrome	Anal stenosis, Polyhydramnios, Postnatal growth retardation, Esophageal atresia, Tracheoesophagea...	OMIM:214800
Good Syndrome	Diarrhea, Dysphagia	ORPHA:169105
Hellp Syndrome	Cerebral hemorrhage, Nausea, Increased body weight, Prolonged prothrombin time, Vomiting, Hypoten...	ORPHA:244242
Beckwith-Wiedemann Syndrome	Premature birth, Polyhydramnios, Large placenta, Subchorionic septal cyst, Umbilical hernia	ORPHA:116
Rift Valley Fever	Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Gingival bleeding	ORPHA:319251
Scorpion Envenomation	Bundle branch block, Tachycardia, Cardiac conduction abnormality, Abdominal pain, Congestive hear...	ORPHA:466677
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Abdominal distention, Abnormal tongue morphology, Diarrhea, Neoplasm of th...	ORPHA:653
Distal Renal Tubular Acidosis	Short stature, Poor appetite, Diarrhea, Growth delay, Constipation, Vomiting	ORPHA:18
Developmental And Epileptic Encephalopathy 50	Diarrhea, Dysphagia	OMIM:616457
Dubowitz Syndrome	Short stature, Postnatal growth retardation, Feeding difficulties in infancy, Velopharyngeal insu...	OMIM:223370
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Diarrhea, Purpura	OMIM:235400
Coffin-Siris Syndrome 1	Duodenal ulcer, Intestinal malrotation, Short stature, Postnatal growth retardation, Feeding diff...	OMIM:135900
Hyper-Igd Syndrome	Diarrhea, Chronic diarrhea, Vomiting, Abdominal pain	OMIM:260920
Riddle Syndrome	Conjunctival telangiectasia, Short stature, Abdominal pain, Intraventricular hemorrhage, Diarrhea...	ORPHA:420741
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Malabsorption, Feedin...	ORPHA:3260
Rothmund-Thomson Syndrome Type 1	Short stature, Diarrhea, Functional abnormality of the gastrointestinal tract, Telangiectasia, Gr...	ORPHA:221008
Deeah Syndrome	Short stature, Decreased heart rate variability, Malabsorption, Chronic diarrhea, Narrow palate, ...	OMIM:619004
Hurler Syndrome	Short stature, Angina pectoris, Chronic diarrhea, Feeding difficulties, Growth delay, Macroglossi...	ORPHA:93473
Dubowitz Syndrome	Anal stenosis, Short stature, Malabsorption, Postnatal growth retardation, Rectal prolapse, Submu...	ORPHA:235
Rothmund-Thomson Syndrome Type 2	Short stature, Diarrhea, Functional abnormality of the gastrointestinal tract, Cleft palate, Grow...	ORPHA:221016
Sandhoff Disease	Macroglossia, Orthostatic hypotension, Chronic diarrhea, Episodic abdominal pain	OMIM:268800
Isolated Biliary Atresia	Acholic stools, Fat malabsorption, Decreased liver function	ORPHA:30391
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Pyloric stenosis, Submucous cleft hard palate, High palate, Chronic diarrhea	ORPHA:457279
Exercise-Induced Malignant Hyperthermia	Vomiting, Decreased liver function, Lethargy, Hepatic failure, Nausea	ORPHA:466650
Ogden Syndrome	Short stature, Postnatal growth retardation, Diarrhea, Ventricular tachycardia, Narrow palate, Pr...	OMIM:300855
Kawasaki Disease	Nausea and vomiting, Pericarditis, Abdominal pain, Congestive heart failure, Diarrhea, Vasculitis...	ORPHA:2331
Immunodeficiency With Hyper-Igm, Type 1	Stomatitis, Diarrhea	OMIM:308230
Gitelman Syndrome	Prolonged QT interval, Nausea and vomiting, Abdominal pain, Raynaud phenomenon, Diarrhea, Low-to-...	ORPHA:358
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Recurrent skin infections, Intestinal malrotation, Hiatus hernia, Cleft palate, High palate, Cons...	OMIM:601776
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea	ORPHA:294023
Leptospirosis	Nausea and vomiting, Pericarditis, First degree atrioventricular block, Anorexia, Abdominal pain,...	ORPHA:509
Autosomal Recessive Cutis Laxa Type 1	Severe short stature, Pyloric stenosis, Recurrent pneumonia, Pyelonephritis, Small bowel divertic...	ORPHA:90349
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding	ORPHA:221139
Leukocyte Adhesion Deficiency, Type I	Chronic diarrhea, Rectal abscess	OMIM:116920
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea	ORPHA:276
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Chronic diarrhea	OMIM:600802
Abetalipoproteinemia	Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Steatorrhea, Fat malabsorption	ORPHA:14
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia	ORPHA:3164
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Bronchiectasis, Pyelonephritis, Feeding difficulties, Vomiting, Sma...	ORPHA:90348
Agammaglobulinemia 1, Autosomal Recessive	Chronic diarrhea, Rectal abscess	OMIM:601495
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Chronic diarrhea, Chronic constipation, High palate, Intrauteri...	OMIM:619005
Glycine Encephalopathy	Lethargy, Poor suck	ORPHA:407
Familial Gestational Hyperthyroidism	Diarrhea	ORPHA:99819
Japanese Encephalitis	Diarrhea, Vomiting, Anorexia, Abdominal pain	ORPHA:79139
Omenn Syndrome	Chronic diarrhea	ORPHA:39041
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Chronic diarrhea, Feeding difficulties, Dysphagia	OMIM:620358
Omenn Syndrome	Diarrhea	OMIM:603554
Rothmund-Thomson Syndrome	Telangiectasia of the skin, Short stature, Nasogastric tube feeding in infancy, Diarrhea, Vomiting	ORPHA:2909
Farber Disease	Hepatic failure, Chronic diarrhea, Short stature, Feeding difficulties	ORPHA:333
Rat-Bite Fever	Pericarditis, Myocarditis, Diarrhea, Vomiting, Parotitis	ORPHA:31205
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Chronic Graft Versus Host Disease	Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Abnormal esophagus morpholo...	ORPHA:99921
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Diarrhea	ORPHA:424
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea	OMIM:167100
Trichohepatoneurodevelopmental Syndrome	Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, High palate, Decre...	OMIM:618268
Listeriosis	Pericarditis, Abdominal pain, Congestive heart failure, Diarrhea, Peritonitis, Myocarditis, Vomit...	ORPHA:533
Steinert Myotonic Dystrophy	Atrial fibrillation, Intestinal pseudo-obstruction, Prolonged QRS complex, Left ventricular systo...	ORPHA:273
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Chronic diarrhea	ORPHA:169154
Liver Disease, Severe Congenital	Chronic gastritis, Pulmonary edema, Eczema, Pneumonia, Abdominal distention, Diarrhea, Peritoniti...	OMIM:619991
Diamond-Blackfan Anemia 21	Aortic regurgitation, Chronic diarrhea, Short stature	OMIM:620072
Eisenmenger Syndrome	Abdominal distention, Pedal edema, Peripheral edema, Bacterial endocarditis, Lethargy, Ascites, G...	ORPHA:97214
T-Cell Immunodeficiency With Thymic Aplasia	Chronic diarrhea	OMIM:242700
Pearson Syndrome	Cardiac conduction abnormality, Postnatal growth retardation, Exocrine pancreatic insufficiency, ...	ORPHA:699
Multiple Endocrine Neoplasia Type 4	Peptic ulcer, Diarrhea, Episodic abdominal pain, Zollinger-Ellison syndrome, Esophagitis	ORPHA:276152
Nijmegen Breakage Syndrome	Anal stenosis, Short stature, Anorectal anomaly, Chronic diarrhea, Cleft palate, Anal atresia	ORPHA:647
Chikungunya	Abnormal bleeding, Epistaxis, Raynaud phenomenon, Diarrhea, Vomiting, Gingival bleeding, Petechiae	ORPHA:324625
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Nausea, Vomiting, Persistent bleeding after trauma, I...	ORPHA:247245
Zttk Syndrome	Aortic regurgitation, Short stature, Feeding difficulties in infancy, Submucous cleft hard palate...	OMIM:617140
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diarrhea, Chronic diarrhea	OMIM:102700
Leukocyte Adhesion Deficiency Type Ii	Short stature, Protruding tongue, Chronic diarrhea, Narrow palate, Recurrent gastroenteritis, Int...	ORPHA:99843
Fraser Syndrome 1	Abnormal small intestine morphology, Cleft palate, Abnormality of the anus	OMIM:219000
Helsmoortel-Van Der Aa Syndrome	Short stature, High, narrow palate, Chronic diarrhea, Episodic vomiting, Heart murmur, Feeding di...	OMIM:615873
Microsporidiosis	Anorexia, Abdominal pain, Myocarditis, Peritonitis, Chronic diarrhea, Vomiting, Intermittent diar...	ORPHA:2552
Mucopolysaccharidosis Type 3	Malabsorption, Atrioventricular block, Macroglossia, Reduced left ventricular ejection fraction, ...	ORPHA:581
Bartter Syndrome, Type 1, Antenatal	Short stature, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting	OMIM:601678
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding	ORPHA:252183
Occipital Horn Syndrome	Orthostatic hypotension, Hiatus hernia, Chronic diarrhea, Growth delay, High palate, Bruising sus...	OMIM:304150
Ectodermal Dysplasia-Skin Fragility Syndrome	Abnormal tongue morphology, Chronic diarrhea, Short stature, Anoperineal fistula	ORPHA:158668
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Protracted diarrhea	ORPHA:331206
Bartter Syndrome, Type 2, Antenatal	Short stature, Diarrhea, Low-to-normal blood pressure, Constipation, Vomiting	OMIM:241200
Viss Syndrome	Chronic gastritis, Polyhydramnios, High, narrow palate, Gastroesophageal reflux, High palate, Bro...	OMIM:619472
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Chronic diarrhea	OMIM:602450
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Rectovaginal fistula	ORPHA:35078
Genitopatellar Syndrome	Anal stenosis, Polyhydramnios, Malrotation of small bowel, Feeding difficulties, Anteriorly place...	OMIM:606170
Ataxia-Telangiectasia	Conjunctival telangiectasia, Chronic diarrhea, Short stature, Delayed puberty	OMIM:208900
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Diarrhea, Feeding difficulties, Hypertension, Vomiting, Dysphagia, Pulmo...	OMIM:606721
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Feeding difficulties	OMIM:618278
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intestinal malrotation, Feeding difficulties, Pulmonic stenosis, Intermittent diarrhea, Intrauter...	ORPHA:2255
Pineoblastoma	Lethargy	ORPHA:251909
Mucopolysaccharidosis Type 2, Severe Form	Short stature, Chronic diarrhea, Heart murmur, Growth delay, Macroglossia, Cardiomyopathy, Hypert...	ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form	Short stature, Chronic diarrhea, Heart murmur, Growth delay, Macroglossia, Cardiomyopathy, Hypert...	ORPHA:217093
Immunodeficiency 47	Chronic diarrhea, Tricuspid regurgitation, Exocrine pancreatic insufficiency	OMIM:300972
Ectodermal Dysplasia And Immunodeficiency 2	Chronic diarrhea, Recurrent infection of the gastrointestinal tract	OMIM:612132
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Short stature, High, na...	ORPHA:286
Mucopolysaccharidosis Type 2	Short stature, Chronic diarrhea, Growth delay, Macroglossia, Cardiomyopathy, Hypertension, Arrhyt...	ORPHA:580
Agammaglobulinemia, X-Linked	Chronic diarrhea, Hepatocellular carcinoma	OMIM:300755
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroparesis, Transient ischemic attack, Proportionate short stature, Feeding difficulties in in...	ORPHA:500150
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Myocardial infarction, Anorexia...	ORPHA:99889
African Trypanosomiasis	Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Diarrhea, Second degree atriov...	ORPHA:3385
Schinzel-Giedion Syndrome	Umbilical hernia, Neural tube defect	ORPHA:798
Aspartylglucosaminuria	Macroglossia, Mitral regurgitation, Short stature, Diarrhea	OMIM:208400
Tuberous Sclerosis Complex	Pituitary adenoma, Parathyroid hyperplasia, Hypertension, Pheochromocytoma, Parathyroid adenoma, ...	ORPHA:805
Nmda Receptor Encephalitis	Orthostatic hypotension, Vomiting, Diarrhea	ORPHA:217253
Cerebrotendinous Xanthomatosis	Chronic diarrhea	ORPHA:909

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Epcam

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Epcam.

No publications found that use IMPC mice or data for Epcam.

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Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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