Gene Summary

Name:
gasdermin D
Synonyms:
DF5L,  1810036L03Rik,  M2-4,  Gsdmdc1,  Dfna5l

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased heart left ventricle size Gsdmdem1(IMPC)Marc HOM   Early adult 9.94×10-06
dilated heart left ventricle Gsdmdem1(IMPC)Marc HOM   Early adult 9.90×10-06

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Viewing: all phenotypes

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 Gsdmd mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent viral infections, Recurrent protozoan infections, Rec... OMIM:308220
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Lactose Intolerance, Adult Type
Diarrhea, Abdominal pain, Lactose intolerance, Flatulence OMIM:223100
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Chronic diarrhea, Recurrent respiratory infections, Diarrhea OMIM:614102
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent candida infections, Recurrent bacterial infections OMIM:242870
Immunodeficiency 35
Increased circulating IgE level, Recurrent viral infections, Recurrent mycobacterial infections, ... OMIM:611521
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Complete or near-complete absence of specific antibody re... OMIM:605258
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent streptococcus pneumoniae infections, Recurrent bac... ORPHA:70592
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Immunodeficiency 61
Recurrent otitis media, Recurrent bacterial infections, Decreased circulating IgG4 level, Recurre... OMIM:300310
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain, Malabsorption OMIM:222900
Angioedema, Hereditary, 8
Diarrhea, Abdominal pain, Episodic vomiting OMIM:619367
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG, Recurrent respiratory infections, Recurrent bacterial in... OMIM:613495
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Pouchitis
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... ORPHA:217067
Complement Component 4B Deficiency
Recurrent otitis media, Chronic diarrhea, Recurrent sinusitis, Recurrent pneumonia, Meningitis OMIM:614379
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Decreased circulating IgG leve... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Decreased circulating IgG level, Increased circulating Ig... OMIM:608106
Myelolymphatic Insufficiency
Recurrent viral infections, Recurrent bacterial infections OMIM:310350
Immune Deficiency, Familial Variable
Recurrent infections, Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 104
Recurrent otitis media, Failure to thrive secondary to recurrent infections, Gastroesophageal ref... OMIM:608971
Diarrhea 11, Malabsorptive, Congenital
Diarrhea OMIM:618662
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Rabies
Anorexia, Nausea and vomiting, Diarrhea, Recurrent pharyngitis ORPHA:770
Agammaglobulinemia 2, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent pneumonia, Decreased circulat... OMIM:613500
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Immunodeficiency 31B
Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Diarrhea 9
Diarrhea OMIM:618168
Immunodeficiency 19
Severe viral infection, Chronic diarrhea, Recurrent respiratory infections, Recurrent otitis media OMIM:615617
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption ORPHA:103907
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Cap Polyposis
Abdominal distention, Diarrhea, Abdominal pain, Constipation, Hematochezia, Atrophic gastritis ORPHA:160148
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Chronic decreased circulating total IgG, Recurrent sinusitis, Reduced iso... OMIM:613493
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulati... OMIM:613502
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent lower respiratory tract infections, Diarrhea, Recurrent bronchi... OMIM:613501
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Lactase Deficiency, Congenital
Diarrhea, Lactose intolerance OMIM:223000
Complement Component 5 Deficiency
Recurrent meningococcal disease, Intractable diarrhea, Recurrent Neisserial infections OMIM:609536
Immunodeficiency 116
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections OMIM:608957
Brunner Syndrome
Diarrhea OMIM:300615
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, Decreased intestinal transit time, Feeding d... OMIM:620045
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Decreased circulating IgG level, Recurrent pneumoni... OMIM:612692
Hirschsprung Disease
Intestinal obstruction, Sepsis, Diarrhea, Functional abnormality of the gastrointestinal tract, A... ORPHA:388
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:606528
Immunodeficiency, Common Variable, 13
Recurrent viral infections, Decreased circulating antibody level, Recurrent fungal infections, Re... OMIM:616873
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Abdominal pain, Bloody diarrhea, Episodic abdominal pain, Hematochezia, Ch... ORPHA:209964
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract... OMIM:619446
Immunodeficiency 46
Chronic oral candidiasis, Sepsis, Chronic diarrhea, Recurrent sinopulmonary infections, Meningitis OMIM:616740
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea, Fat malabsorption OMIM:613291
Dracunculiasis
Recurrent cutaneous abscess formation, Nausea and vomiting, Diarrhea ORPHA:231
Primary Peritoneal Carcinoma
Abdominal distention, Abdominal pain, Constipation, Peritonitis, Nausea and vomiting ORPHA:168829
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Giant hypertrophic gastritis, Abd... ORPHA:2494
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level, Recurrent bacterial infections OMIM:300636
Diarrhea 7, Protein-Losing Enteropathy Type
Diarrhea, Abdominal colic, Vomiting OMIM:615863
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea OMIM:251850
Erythroderma Desquamativum
Diarrhea ORPHA:314
Enterokinase Deficiency
Diarrhea OMIM:226200
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Bloody diarrhea, Esophagitis, Vomiting OMIM:619079
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Recurrent aphthous stomatitis, Recurrent infections, Abdominal pain, Diarrhea, Recurrent sinusiti... OMIM:613960
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Immunodeficiency 15B
Recurrent infections, Chronic oral candidiasis, Chronic diarrhea OMIM:615592
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Vomiting, Recurrent upper respiratory tract infections OMIM:620137
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation OMIM:615616
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Anorexia, Fa... ORPHA:169160
Coproporphyria, Hereditary
Diarrhea, Abdominal pain, Vomiting, Constipation OMIM:121300
Enteric Anendocrinosis
Diarrhea, Malabsorption, Vomiting ORPHA:83620
Diarrhea 13
Vomiting, Secretory diarrhea OMIM:620357
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Recurrent opportunistic infections, Diarrhea, Meningitis, Failure to thrive secondary to recurren... OMIM:601457
Immunodeficiency 11B With Atopic Dermatitis
Severe cytomegalovirus infection, Chronic diarrhea, Disseminated molluscum contagiosum, Colonic e... OMIM:617638
Immunodeficiency 56
Recurrent otitis media, Recurrent respiratory infections, Recurrent infections, Chronic diarrhea,... OMIM:615207
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Recurrent bacterial infect... OMIM:193670
Bare Lymphocyte Syndrome, Type Ii
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Chronic mucocut... OMIM:209920
Immunodeficiency, Common Variable, 7
Recurrent infections, Recurrent urinary tract infections, Recurrent respiratory infections, Chron... OMIM:614699
Folate Malabsorption, Hereditary
Recurrent infections, Feeding difficulties in infancy, Diarrhea, Malabsorption OMIM:229050
Immunodeficiency, Common Variable, 11
Crohn's disease, Recurrent respiratory infections, Mucoid diarrhea, Inflammation of the large int... OMIM:615767
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Immunodeficiency 48
Chronic diarrhea, Recurrent candida infections, Pneumocystis carinii pneumonia, Recurrent respira... OMIM:269840
Glucose/Galactose Malabsorption
Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Malabsorption OMIM:606824
Immunodeficiency 112
BCGitis, Recurrent lower respiratory tract infections, BCGosis, Chronic diarrhea, Chronic mucocut... OMIM:620449
Immunodeficiency 76
Recurrent bronchiolitis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy OMIM:614022
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Chromosome 19P13.13 Deletion Syndrome
Diarrhea, Abdominal pain, Vomiting, Constipation, Feeding difficulties OMIM:613638
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Vascular Hyalinosis
Diarrhea, Hematochezia, Malabsorption OMIM:277175
Diarrhea 12, With Microvillus Atrophy
Vomiting, Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea OMIM:619445
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Rec... OMIM:618495
Immunodeficiency 7
Chronic oral candidiasis, Recurrent otitis media, Persistent EBV viremia, Diarrhea, Severe varice... OMIM:615387
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, V... OMIM:615237
Pancreatic Colipase Deficiency
Chronic diarrhea, Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Recurrent upper respiratory tract infectio... ORPHA:277
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent infections, Diarrhea, Recurren... OMIM:150550
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Abdominal pain, Vomiting, Constipation, Chronic constipation OMIM:248360
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Recurrent bronchiolitis, Recurrent pneumonia, Secretory diarrhea OMIM:616069
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Decreased circulating IgG level, Recurrent viral infections, Recurrent ... ORPHA:275
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Intermittent diarrhea, Feeding difficulties, Gastroesophageal reflux OMIM:619971
Hyaline Fibromatosis Syndrome
Recurrent infections, Diarrhea OMIM:228600
Reticular Dysgenesis
Diarrhea, Sepsis, Malabsorption, Recurrent respiratory infections ORPHA:33355
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Impaired T cell function, Decreased circulating IgG... OMIM:607594
Chylomicron Retention Disease
Malnutrition, Steatorrhea, Diarrhea, Vomiting OMIM:246700
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Immunodeficiency 69
BCGosis, BCGitis, Diarrhea OMIM:618963
Immunodeficiency 27B
Recurrent mycobacterium avium complex infections, Recurrent mycobacterial infections OMIM:615978
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea OMIM:613217
Cog7-Cdg
Recurrent infections, Diarrhea, Feeding difficulties ORPHA:79333
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Recurrent respiratory infections, Feeding difficulties in infancy, Vomiting OMIM:264350
Radiation Proctitis
Intestinal obstruction, Sepsis, Diarrhea, Abdominal pain, Bowel incontinence, Constipation, Hemat... ORPHA:70475
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Osmotic diarrhea, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Immunodeficiency 57 With Autoinflammation
Diarrhea, Inflammation of the large intestine, Recurrent respiratory infections, Gastritis OMIM:618108
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, Diarrhea, Recurrent upper respiratory tract i... OMIM:614069
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Complement Factor B Deficiency
Recurrent meningococcal disease, Recurrent bacterial infections OMIM:615561
T-Cell Immunodeficiency With Thymic Aplasia
Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent Staphylococcus aureus i... ORPHA:83471
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Recurrent sinusitis, Recurrent pneumonia, ... OMIM:619281
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Right ventricular dilatation OMIM:618920
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Recurrent infections, Chronic diarrhea OMIM:615285
Adult Idiopathic Neutropenia
Recurrent infections, Increased circulating IgM level, Helicobacter pylori infection, Recurrent f... ORPHA:2688
Isolated Agammaglobulinemia
Sepsis, Diarrhea, Malabsorption, Recurrent cutaneous abscess formation, Recurrent respiratory inf... ORPHA:229717
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Chronic diarrhea, Recurrent pneumonia, Recurrent bacterial meningitis, ... OMIM:300400
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting, Recurrent respiratory infections ORPHA:90035
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent candida infections, Recurrent Staphylococcus aureus infections, Diarrhea, Chronic mucoc... ORPHA:572
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Cholesteryl Ester Storage Disease
Diarrhea, Nausea and vomiting, Hepatic failure ORPHA:75234
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Feeding difficulties, Vomiting OMIM:612075
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Recurrent infections, Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Glutaric Aciduria Iii
Diarrhea, Vomiting OMIM:231690
Secondary Short Bowel Syndrome
Abdominal distention, Sepsis, Steatorrhea, Diarrhea, Small intestinal dysmotility, Vomiting, Cons... ORPHA:95427
Specific Granule Deficiency 1
Recurrent otitis media, Recurrent pneumonia, Impaired neutrophil bactericidal activity, Impaired ... OMIM:245480
Eosinophilic Gastroenteritis
Steatorrhea, Diarrhea, Abdominal pain, Vomiting, Hematochezia, Malabsorption, Dysphagia ORPHA:2070
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Ebola Hemorrhagic Fever
Sepsis, Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Vomiting, Nausea, Poor app... ORPHA:319218
Immunodeficiency 10
Increased circulating IgG3 level, Sepsis, Recurrent otitis media, Recurrent infections, Recurrent... OMIM:612783
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Constipation, Infectious encephalitis ORPHA:99745
Central Diabetes Insipidus
Anorexia, Nausea and vomiting, Diarrhea ORPHA:178029
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Abnormal immunoglobulin level, Increased circulating IgG level,... ORPHA:276
Pancreatoblastoma
Diarrhea, Abdominal distention, Vomiting, Abdominal pain ORPHA:677
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Panhypogammaglobulinemia, Recurrent respiratory infections, Decreased cir... OMIM:601495
Hereditary Folate Malabsorption
Anorexia, Gastroesophageal reflux, Diarrhea, Recurrent urinary tract infections, Nausea and vomit... ORPHA:90045
Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:1267
Intestinal Botulism
Diarrhea, Nausea and vomiting, Dysphagia, Xerostomia ORPHA:178481
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Small intestinal dysmoti... ORPHA:298
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Diarrhea, Recurrent ear infections, Abdominal pain, Recurrent vira... ORPHA:486
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Ch... OMIM:616433
Foodborne Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:228371
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting ORPHA:29822
Autosomal Agammaglobulinemia
Sepsis, Recurrent infections, Diarrhea, Malabsorption, Recurrent respiratory infections, Meningitis ORPHA:33110
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Caspase 8 Deficiency
Chronic diarrhea, Recurrent herpes, Recurrent sinopulmonary infections OMIM:607271
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, Recurr... OMIM:613489
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Chronic diarrhea, Recurrent respiratory infections, Recurrent otitis media OMIM:618523
Trichohepatoenteric Syndrome 2
Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis OMIM:614602
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Recurrent bacterial infections, Increased circulating IgA level, Abnormal c... OMIM:300291
Inhalational Botulism
Diarrhea, Nausea and vomiting, Xerostomia, Constipation ORPHA:254504
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Chronic diarrhea, Chronic mucocutaneous candidiasis, Invasive fungal infe... ORPHA:98813
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Chronic diarrhea, Poor suck, Feeding difficulties, Chronic constipation OMIM:617788
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Reye syndrome-like episodes, Vomiting, Nausea, Poor appetite, Feeding difficulties ORPHA:927
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Diarrhea, Constipation, Dysphagia, Feeding difficulties ORPHA:35708
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Stomatitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurr... ORPHA:911
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Recurrent lower respiratory tract infections, Recurrent infections, Abdom... OMIM:226300
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Abdominal pain, Vo... OMIM:603041
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Dysgammaglobulinemia, Sepsis, Decreased circulating IgE, Recurrent lowe... OMIM:308230
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ... ORPHA:411703
Necrotizing Enterocolitis
Abdominal distention, Neonatal sepsis, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Blo... ORPHA:391673
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Pyoderma, Diarrhea, Recurrent urinary tract infections, Meningitis, Recur... OMIM:307200
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Recurrent viral infections, Candida esophagitis, Recurrent bacterial infec... OMIM:620632
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Cutaneous Mastocytoma
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79455
Meconium Ileus
Chronic diarrhea, Meconium ileus OMIM:614665
Alg1-Cdg
Recurrent infections, Chronic diarrhea, Sepsis, Decreased liver function ORPHA:79327
Cog4-Cdg
Intermittent diarrhea, Neonatal sepsis, Recurrent infection of the gastrointestinal tract, Feedin... ORPHA:263501
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Constipation, Nausea ORPHA:100924
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Diarrhea, Crohn's disease, Atrophic gastrit... OMIM:616100
Combined Malonic And Methylmalonic Acidemia
Vomiting, Intermittent diarrhea, Nasogastric tube feeding ORPHA:289504
Porphyria, Acute Intermittent
Diarrhea, Abdominal pain, Vomiting, Nausea, Constipation, Paralytic ileus OMIM:176000
Rapadilino Syndrome
Diarrhea, Feeding difficulties OMIM:266280
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Specific Granule Deficiency 2
Intractable diarrhea, Sepsis, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial in... OMIM:617475
Imerslund-Grasbeck Syndrome 2
Diarrhea, Recurrent urinary tract infections OMIM:618882
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Vomiting OMIM:177735
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Recurrent respiratory infections, Gastritis ORPHA:2575
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Diarrhea, Vomiting ORPHA:79319
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diarrhea ORPHA:49827
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Recurrent sinusitis OMIM:617765
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Chronic diarrhea, Recurrent bronchopulmonary infections, Recurrent viral infections, Re... OMIM:242700
Visceral Myopathy 1
Abdominal distention, Intestinal pseudo-obstruction, Gastroparesis, Diarrhea, Abdominal pain, Vom... OMIM:155310
Nk-Cell Enteropathy
Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Hematochezia ORPHA:263665
Mitochondrial Dna Depletion Syndrome 11
Recurrent infections, Chronic diarrhea, Nausea OMIM:615084
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Crohn's disease, Recurrent sinopulmonary infections, Ulcerative colitis, Colitis OMIM:618394
Immunodeficiency 25
Recurrent herpes, Recurrent candida infections, Recurrent pneumonia, Protracted diarrhea OMIM:610163
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Diarrhea, Abdominal pain, Vomiting, Hematochezia, Malabsorption, Xerostomia OMIM:175500
Autoinflammatory-Pancytopenia Syndrome
Chronic diarrhea, Severe Epstein Barr virus infection, Intestinal inflammation OMIM:619858
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Gastrointestina... ORPHA:67
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Melena, Bloody diarrhea, Lack of bow... ORPHA:100075
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections OMIM:619693
Aa Amyloidosis
Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption, Malnutrition ORPHA:85445
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Abdominal pain, Chronic diarrhea, Nausea and vomiting ORPHA:65682
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Selective Igm Deficiency
Chronic diarrhea, Crohn's disease, Recurrent vulvovaginal candidiasis, Onychomycosis, Severe vari... ORPHA:331235
Congenital-Onset Steinert Myotonic Dystrophy
Encopresis, Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Dysphagia ORPHA:589821
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Enterocolitis, Secretory diarrhea, Meningitis, Feeding difficulties in infancy OMIM:616050
Classic Galactosemia
Sepsis, Diarrhea, Vomiting, Feeding difficulties, Hepatic failure ORPHA:79239
American Trypanosomiasis
Diarrhea, Abdominal pain, Abnormal large intestine physiology, Achalasia, Infectious encephalitis ORPHA:3386
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Steatorrhea, Hepatic failure OMIM:235555
Lassa Fever
Sepsis, Diarrhea, Abdominal pain, Dysphagia, Nausea and vomiting ORPHA:99824
Congenital Toxoplasmosis
Diarrhea ORPHA:858
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption OMIM:600955
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent candida infections, Sepsis, Recurrent lower respiratory tract infections, Diarrhea, Cro... ORPHA:436159
Hyperprolinemia Type 2
Diarrhea, Abdominal pain, Dysphagia, Feeding difficulties ORPHA:79101
Leukocyte Adhesion Deficiency, Type I
Recurrent infections, Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurrent staphylococc... OMIM:116920
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Immunodeficiency 85 And Autoimmunity
Tube feeding, Persistent EBV viremia, Chronic diarrhea, Vomiting, Recurrent respiratory infections OMIM:619510
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting ORPHA:56425
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Immunodeficiency 22
Chronic oral candidiasis, Recurrent lower respiratory tract infections, Diarrhea, Recurrent upper... OMIM:615758
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Recurrent respiratory infections, Diarrhea ORPHA:1842
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Diarrhea, Abd... ORPHA:343
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Diarrhea, Feeding difficulties, Vomiting OMIM:250940
Methanol Poisoning
Diarrhea, Abdominal pain, Vomiting ORPHA:31825
Idiopathic/Heritable Pulmonary Arterial Hypertension
Right ventricular dilatation ORPHA:422
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent infections, Chronic diarrhea, Recurrent pneumonia OMIM:619824
Lissencephaly, X-Linked, 2
Diarrhea, Feeding difficulties in infancy OMIM:300215
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent candida infections, Neonatal sepsis, Recurrent lower respiratory tract infections, Recu... ORPHA:169154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Recurrent lower respiratory tract infections, BCGosis, Severe viral infect... OMIM:619644
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Nasogastric tube feeding, Gastroesophageal reflux OMIM:607906
Cronkhite-Canada Syndrome
Anorexia, Abdominal pain, Diarrhea, Malabsorption ORPHA:2930
Galactosemia I
Decreased liver function, Diarrhea, Vomiting OMIM:230400
Immunodeficiency 58
Recurrent aphthous stomatitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Esophagitis, ... OMIM:618131
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Vomiting, Malnutrition ORPHA:79456
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Recurrent respiratory infections, Diarrhea, Recurrent ear infections... ORPHA:79124
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Diarrhea, Vomiting, Constipation, Feeding difficulties in infancy, Recur... OMIM:223900
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abdominal pain, Brain abscess ORPHA:54251
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Chronic diarrhea, Abdominal pain, Vomiting, Chronic constipation OMIM:142680
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Persistent EBV viremia, Persistent CMV viremia, Chr... OMIM:616005
Dengue Fever
Nausea and vomiting, Abdominal pain, Gastrointestinal hemorrhage, Diarrhea ORPHA:99828
Immunodeficiency 27A
Anorexia, Diarrhea OMIM:209950
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Diarrhea, Vomiting OMIM:608104
Kaposi Sarcoma
Diarrhea, Recurrent herpes ORPHA:33276
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Neonatal sepsis, Diarrhea, Functional abnormality... ORPHA:90051
Familial Glucocorticoid Deficiency
Anorexia, Recurrent infections, Recurrent urinary tract infections, Diarrhea, Episodic abdominal ... ORPHA:361
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Vomiting, Pseudobulbar paralysis ORPHA:449285
Aggressive Systemic Mastocytosis
Decreased liver function, Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Abdomi... ORPHA:98850
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Hereditary Fructose Intolerance
Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti... ORPHA:469
Legionnaires Disease
Anorexia, Sepsis, Recurrent pharyngitis, Diarrhea, Abdominal pain, Nausea and vomiting, Infectiou... ORPHA:549
Immunodeficiency 97 With Autoinflammation
Recurrent otitis media, Diarrhea, Recurrent urinary tract infections, Abdominal pain, Enterocolit... OMIM:619802
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Diarrhea, Vomiting ORPHA:42
Omenn Syndrome
Diarrhea, Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections OMIM:603554
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy OMIM:619705
Bile Acid Synthesis Defect, Congenital, 1
Diarrhea, Steatorrhea, Fat malabsorption, Hepatic failure OMIM:607765
Boutonneuse Fever
Diarrhea, Abdominal pain, Nausea ORPHA:83313
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Abdominal pain, Nausea and vomiting, Meningitis, Recurrent bacterial infections ORPHA:36412
Congenital Disorder Of Glycosylation, Type Ib
Diarrhea, Steatorrhea, Vomiting, Hepatic failure OMIM:602579
Mucopolysaccharidosis, Type Iiib
Diarrhea, Recurrent upper respiratory tract infections OMIM:252920
Blue Diaper Syndrome
Diarrhea ORPHA:94086
Graft Versus Host Disease
Gastrointestinal inflammation, Recurrent infections, Abdominal pain, Stomatitis, Diarrhea, Vomiti... ORPHA:39812
Microvillus Inclusion Disease
Diarrhea, Abdominal distention ORPHA:2290
Adiposis Dolorosa
Diarrhea, Xerostomia, Constipation ORPHA:36397
Immunodeficiency 114, Folate-Responsive
Chronic diarrhea, Recurrent lower respiratory tract infections OMIM:620603
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Fat malabsorption OMIM:601847
Yao Syndrome
Diarrhea, Abdominal pain, Xerostomia OMIM:617321
Immunodeficiency 17
Chronic oral candidiasis, Recurrent otitis media, Chronic diarrhea, Recurrent gastroenteritis, Re... OMIM:615607
Congenital Tufting Enteropathy
Abdominal distention, Steatorrhea, Chronic diarrhea, Vomiting, Secretory diarrhea, Malabsorption ORPHA:92050
Neuroendocrine Neoplasm Of Appendix
Anorexia, Bowel urgency, Hypoactive bowel sounds, Episodic abdominal pain, Mechanical ileus, Cons... ORPHA:100079
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, Vomiting OMIM:601110
Mucopolysaccharidosis, Type Iiia
Diarrhea, Recurrent upper respiratory tract infections OMIM:252900
Avian Influenza
Sepsis, Diarrhea, Abdominal pain, Vomiting, Meningitis, Infectious encephalitis ORPHA:454836
Good Syndrome
Diarrhea, Recurrent urinary tract infections, Recurrent respiratory infections, Dysphagia ORPHA:169105
Hyper-Igd Syndrome
Chronic oral candidiasis, Recurrent infections, Chronic diarrhea, Abdominal pain, Diarrhea, Mollu... OMIM:260920
Immunodeficiency 9
BCGitis, Recurrent aphthous stomatitis, Recurrent infections, Chronic diarrhea, Stomatitis OMIM:612782
X-Linked Agammaglobulinemia
Sepsis, Chronic diarrhea, Recurrent pneumonia, Malabsorption, Recurrent cutaneous abscess formati... ORPHA:47
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting OMIM:212140
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Diarrhea, Abdominal pain, Chronic gastritis, Esophagitis, Inflammation of the large intestine, Ch... OMIM:301074
Encephalopathy, Ethylmalonic
Chronic diarrhea, Feeding difficulties OMIM:602473
Bacterial Toxic-Shock Syndrome
Sepsis, Diarrhea, Recurrent urinary tract infections, Abdominal pain, Severe varicella zoster inf... ORPHA:36234
Shigellosis
Anorexia, Sepsis, Acute colitis, Abdominal pain, Bloody diarrhea, Vomiting, Nausea, Abdominal cra... ORPHA:810
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Intestinal obstruction, Recurrent otitis media, Recurrent lower respiratory tract infections, Chr... OMIM:600802
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia, Recurrent upper respiratory tract infections OMIM:252930
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting OMIM:560000
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation OMIM:608654
Medullary Thyroid Carcinoma
Diarrhea, Dysphagia ORPHA:1332
Familial Mediterranean Fever
Diarrhea, Crohn's disease, Abdominal pain, Episodic abdominal pain, Vomiting, Chronic constipatio... OMIM:249100
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Dyspepsia, Gastroe... ORPHA:85450
Immunodeficiency 92
Recurrent oral herpes, Persistent CMV viremia, BCGosis, Chronic diarrhea, Esophagitis OMIM:619652
Acquired Hypertrichosis Lanuginosa
Chronic diarrhea, Poor appetite ORPHA:2221
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Gastroesopha... OMIM:147060
Immunodeficiency 31C
Chronic oral candidiasis, Recurrent infections, Diarrhea, Chronic mucocutaneous candidiasis, Recu... OMIM:614162
Carcinoid Syndrome
Nausea and vomiting, Protracted diarrhea, Lack of bowel sounds, Episodic abdominal pain ORPHA:100093
Young-Onset Parkinson Disease
Diarrhea, Nausea, Gastroparesis, Constipation ORPHA:2828
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Steatorrhea, Vomiting OMIM:605911
Peripartum Cardiomyopathy
Left atrial enlargement, Myocarditis, Abnormal atrioventricular valve morphology, Left ventricula... ORPHA:563
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Nausea, Poor appetite, Vomiting ORPHA:542323
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea, Severe cytomegalovirus infection OMIM:619313
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Poor appetite, Recurrent candida infections, Diarrhea OMIM:201100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Recurrent otitis media, Recurrent infections, Chronic diarrhea, Inflammation of the large... OMIM:614700
Ppoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Hypoactive bowel sounds,... ORPHA:97278
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Chronic diarrhea, Abdominal pain OMIM:617099
Alg8-Cdg
Diarrhea, Feeding difficulties, Vomiting ORPHA:79325
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Steatorrhea, Hematochezia, Hepatic failure OMIM:613812
Agammaglobulinemia, X-Linked
Sepsis, Recurrent otitis media, Pyoderma, Recurrent lower respiratory tract infections, Recurrent... OMIM:300755
Fabry Disease
Diarrhea, Abdominal pain, Vomiting, Nausea, Tenesmus OMIM:301500
Cholesteryl Ester Storage Disease
Steatorrhea, Diarrhea, Vomiting, Acute hepatic failure, Protuberant abdomen, Hepatic failure OMIM:278000
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Chronic diarrhea, Severe varicella zoster infection, Recurrent viral in... OMIM:606367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent viral infections, Recurrent upper and lower respiratory tract infections, Recurrent ent... ORPHA:331206
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diarrhea, Vomiting ORPHA:3240
Relapsing Fever
Diarrhea, Abdominal pain, Vomiting ORPHA:91547
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea OMIM:618805
Angioedema, Hereditary, 1
Diarrhea, Abdominal pain, Vomiting OMIM:106100
Immunodeficiency 59 And Hypoglycemia
Sepsis, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Herpes simpl... OMIM:233600
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
B4Galt1-Cdg
Diarrhea ORPHA:79332
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurrent viral infections, Recurr... OMIM:102700
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Feeding difficulties, Vomiting OMIM:251000
Whipple Disease
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Malabsorption, Infectious enceph... ORPHA:3452
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Gastroesophageal reflux, Diarrhea, Recurrent urinary tract infections, ... ORPHA:221139
Microscopic Polyangiitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Peritonitis,... ORPHA:727
Wiskott-Aldrich Syndrome
Hematemesis, Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Melena... OMIM:301000
Infection-Related Hemolytic Uremic Syndrome
Gastrointestinal infarctions, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Severe vi... ORPHA:544482
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, Atrophic ga... OMIM:240300
Familial Pancreatic Carcinoma
Anorexia, Intermittent diarrhea, Intestinal pseudo-obstruction, Abdominal pain, Poor appetite, Ex... ORPHA:1333
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Malabsorption OMIM:242860
Hereditary Angioedema Type 1
Diarrhea, Abdominal pain, Vomiting, Nausea, Dysphagia ORPHA:100050
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Recurrent infections, Bloody diarrhea, Inflammation of the large intestine, Recurrent pneumonia, ... OMIM:617718
Dpm1-Cdg
Diarrhea, Gastrostomy tube feeding in infancy ORPHA:79322
Celiac Disease, Susceptibility To, 1
Abdominal distention, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Abdominal pain, Dia... OMIM:212750
Congenital Myopathy 20
Chronic diarrhea OMIM:620310
Late-Onset Isolated Acth Deficiency
Anorexia, Sepsis, Diarrhea, Abdominal pain, Constipation, Nausea and vomiting ORPHA:199299
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Episodic vomiting, Constipation OMIM:105210
Wild Type Attr Amyloidosis
Intermittent diarrhea, Chronic diarrhea, Bowel incontinence, Gastrointestinal dysmotility ORPHA:330001
19P13.13 Microdeletion Syndrome
Diarrhea, Abdominal pain, Functional abnormality of the gastrointestinal tract, Vomiting, Feeding... ORPHA:357001
Stevens-Johnson Syndrome
Sepsis, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Acute hepatic failure, Dysphagia, ... ORPHA:36426
Zygomycosis
Hematemesis, Unusual skin infection, Gastrointestinal hemorrhage, Gastritis, Melena, Diarrhea, Ab... ORPHA:73263
Trichothiodystrophy 5, Nonphotosensitive
Recurrent infections, Chronic diarrhea OMIM:300953
Systemic Capillary Leak Syndrome
Diarrhea, Abdominal pain ORPHA:188
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea OMIM:614328
Mucopolysaccharidosis, Type Ii
Diarrhea, Recurrent pneumonia, Recurrent otitis media, Intestinal pseudo-obstruction OMIM:309900
Somatostatinoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Diarrhea, Lack of bow... ORPHA:97283
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, C... ORPHA:309031
Chromosome 6Q24-Q25 Deletion Syndrome
Dysplastic pulmonary valve, Right ventricular dilatation, Mitral valve prolapse, Dysplastic tricu... OMIM:612863
Shwachman-Diamond Syndrome 2
Recurrent infections, Steatorrhea, Diarrhea, Exocrine pancreatic insufficiency OMIM:617941
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting ORPHA:263455
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea, Malabsorption ORPHA:3217
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea ORPHA:100085
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation OMIM:608643
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Recurrent otitis media, Recurrent lower respiratory tract infections, Gastr... OMIM:620233
Glucagonoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Stomatitis, Diarrhea,... ORPHA:97280
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Recurrent infections, Nausea, Diarrhea, Vomiting ORPHA:79240
Familial Hypoaldosteronism
Diarrhea, Nausea and vomiting, Feeding difficulties ORPHA:427
Juvenile Polyposis Syndrome
Diarrhea, Abdominal pain, Hematochezia OMIM:174900
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Lujo Hemorrhagic Fever
Diarrhea, Fulminant hepatitis, Severe viral infection, Nausea, Abdominal cramps, Vomiting, Dyspha... ORPHA:319213
Carney Triad
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Nausea and vomiting ORPHA:139411
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:93552
Familial Mediterranean Fever
Intestinal obstruction, Gastrointestinal infarctions, Diarrhea, Abdominal pain, Constipation, Acu... ORPHA:342
Waldenström Macroglobulinemia
Anorexia, Gastrointestinal hemorrhage, Recurrent infections, Diarrhea, Malabsorption ORPHA:33226
Grfoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Hypoactive bowel sounds,... ORPHA:97261
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Chronic diarrhea, Recurrent viral infections, Recurrent pneumonia, Recu... ORPHA:35078
Mevalonic Aciduria
Recurrent infections, Diarrhea, Vomiting OMIM:610377
Acute Intermittent Porphyria
Abdominal distention, Diarrhea, Abdominal pain, Constipation, Nausea and vomiting, Ileus, Pseudob... ORPHA:79276
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Chronic diarrhea, Inflammation of the large intestine OMIM:614576
Immunodeficiency 55
Recurrent infections, Diarrhea OMIM:617827
Cystic Fibrosis
Steatorrhea, Diarrhea, Meconium ileus, Recurrent bronchopulmonary infections, Recurrent pneumonia... OMIM:219700
Acute Radiation Syndrome
Diarrhea, Vomiting ORPHA:454831
Infantile Systemic Hyalinosis
Steatorrhea, Chronic diarrhea, Malabsorption, Feeding difficulties, Recurrent bacterial infections ORPHA:2176
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Gastritis, Dependency on intravenous nutrition, Ileus, Recurrent infections, Vomiting, Se... ORPHA:37042
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Chronic diarrhea, Recurrent respiratory infections, Feeding difficulties... OMIM:613385
Mirage Syndrome
Sepsis, Gastroesophageal reflux, Recurrent urinary tract infections, Chronic diarrhea, Achalasia,... OMIM:617053
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Recurrent infections, Nausea, Diarrhea, Vomiting ORPHA:264580
Atrial Septal Defect, Sinus Venosus Type
Right ventricular dilatation, Anomalous pulmonary venous return ORPHA:99105
Cholera
Diarrhea, Abdominal pain, Vomiting, Abdominal cramps, Achlorhydria ORPHA:173
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Acute hepatic failure, Feeding difficulties in infancy, Vomiting ORPHA:71212
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Ileus, Severe infection OMIM:304790
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Reye syndrome-like episodes, Vomiting ORPHA:348
Phoar2-Enteropathy Syndrome
Secretory diarrhea OMIM:614441
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Recurrent pharyngitis, Diarrhea, Abdominal pain, Vomiting, Constipation, ... ORPHA:32960
Autoerythrocyte Sensitization Syndrome
Diarrhea, Nausea, Gastrointestinal hemorrhage, Vomiting ORPHA:324636
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Vomiting OMIM:610768
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Vomiting, Episodic vomiting OMIM:618321
Alternating Hemiplegia Of Childhood
Anorexia, Abdominal distention, Oral-pharyngeal dysphagia, Diarrhea, Vomiting, Constipation, Dysp... ORPHA:2131
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Bloody diarrhea, Enterocolitis, Hematochezia, Recurrent respiratory infec... OMIM:243150
Primary Intestinal Lymphangiectasia
Functional abnormality of the gastrointestinal tract, Chronic diarrhea, Abdominal pain, Cryptococ... ORPHA:90362
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Diarrhea, Abdominal pa... ORPHA:275761
Bronchial Neuroendocrine Tumor
Anorexia, Bowel urgency, Poor appetite, Protracted diarrhea, Hepatic failure ORPHA:97287
Refractory Celiac Disease
Malnutrition, Chronic diarrhea, Malabsorption, Abdominal pain ORPHA:398063
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Intermittent diarrhea, Feeding difficulties, Constipation OMIM:618050
Pediatric-Onset Graves Disease
Nausea and vomiting, Diarrhea ORPHA:525731
Neuroblastoma, Susceptibility To, 1
Diarrhea, Abdominal pain OMIM:256700
Serotonin Syndrome
Diarrhea, Nausea, Hepatic failure ORPHA:43116
Biotinidase Deficiency
Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:253260
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
BCGitis, Sepsis, Chronic diarrhea, Recurrent upper respiratory tract infections OMIM:602450
Omenn Syndrome
Chronic diarrhea, Sepsis ORPHA:39041
Houge-Janssens Syndrome 1
Chronic diarrhea OMIM:616355
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Vomiting ORPHA:134
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Vomiting, Peritonitis ORPHA:90038
Acute Adrenal Insufficiency
Anorexia, Diarrhea, Abdominal pain, Recurrent acute respiratory tract infection, Constipation, Na... ORPHA:95409
Listeriosis
Unusual skin infection, Sepsis, Diarrhea, Abdominal pain, Vomiting, Nausea, Unusual CNS infection... ORPHA:533
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Anorexia, Intractable diarrhea, Recurrent otitis media, Gastritis, R... OMIM:619381
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Recurrent urinary tract infections, Abdominal pain, Infl... ORPHA:29207
Mucopolysaccharidosis, Type Iiid
Recurrent otitis media, Tube feeding, Diarrhea, Dysphagia, Recurrent upper respiratory tract infe... OMIM:252940
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:608836
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Chronic diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia, Recurrent ba... OMIM:615895
Japanese Encephalitis
Anorexia, Diarrhea, Abdominal pain, Vomiting, Meningitis, Infectious encephalitis ORPHA:79139
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Chronic diarrhea, Poor suck, Chronic constipation, Feeding difficulties ... ORPHA:500055
Mucoepithelial Dysplasia, Hereditary
Chronic diarrhea, Chronic mucocutaneous candidiasis, Recurrent pneumonia, Melena OMIM:158310
Congenital Disorder Of Glycosylation, Type Ia
Diarrhea, Steatorrhea, Feeding difficulties in infancy, Vomiting OMIM:212065
Turcot Syndrome With Polyposis
Melena, Diarrhea, Abdominal pain, Vomiting, Nausea, Constipation, Hematochezia ORPHA:99818
Ileal Neuroendocrine Tumor
Intermittent diarrhea, Episodic vomiting, Episodic abdominal pain, Nausea, Functional intestinal ... ORPHA:100078
Rat-Bite Fever
Sepsis, Diarrhea, Parotitis, Vomiting, Meningitis ORPHA:31205
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Riddle Syndrome
Diarrhea, Abdominal pain, Recurrent viral infections, Recurrent pneumonia, Recurrent sinusitis ORPHA:420741
Nijmegen Breakage Syndrome
Recurrent otitis media, Diarrhea, Recurrent urinary tract infections, Recurrent bronchitis, Recur... OMIM:251260
Transcobalamin Ii Deficiency
Diarrhea, Vomiting OMIM:275350
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Recurrent infections, Chronic mucocutaneous candidiasis, Diarrh... ORPHA:391487
Citrullinemia Type Ii
Diarrhea, Vomiting ORPHA:247585
Dominant Beta-Thalassemia
Diarrhea, Feeding difficulties, Chronic infection ORPHA:231226
Mitchell-Riley Syndrome
Diarrhea, Malabsorption OMIM:615710
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Reye syndrome-like episodes, Diarrhea, Episodic vomiting ORPHA:20
Trichothiodystrophy 1, Photosensitive
Recurrent infections, Intestinal obstruction, Chronic diarrhea, Malabsorption OMIM:601675
Familial Gestational Hyperthyroidism
Diarrhea ORPHA:99819
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Pancolitis, Bloody diarrhea, Severe varicella zoster infection, Eosinophilic infiltration of the ... OMIM:618213
Aicardi-Goutieres Syndrome 7
Hematemesis, Recurrent lower respiratory tract infections, Diarrhea, Bloody diarrhea, Hematochezi... OMIM:615846
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Hematochezia, Intestinal bleeding ORPHA:79076
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Fat malabsorption, Malnutrition ORPHA:96180
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Episodic vomiting OMIM:246450
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea OMIM:226730
Colchicine Poisoning
Diarrhea, Nausea, Vomiting ORPHA:31824
Osteootohepatoenteric Syndrome
Abdominal pain, Increased intestinal transit time, Secretory diarrhea, Episodic vomiting OMIM:619377
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Recurrent infections, Chronic diarrhea, Vomiting, Exocrine pancreatic insu... OMIM:557000
Zollinger-Ellison Syndrome
Intestinal obstruction, Gastrointestinal hemorrhage, Diarrhea, Episodic abdominal pain, Esophagit... ORPHA:913
Developmental And Epileptic Encephalopathy 50
Diarrhea, Dysphagia OMIM:616457
Microsporidiosis
Anorexia, Intermittent diarrhea, Sepsis, Chronic diarrhea, Abdominal pain, Bronchiolitis, Vomitin... ORPHA:2552
Melas
Intestinal pseudo-obstruction, Diarrhea, Constipation, Vomiting, Gastrointestinal dysmotility ORPHA:550
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea ORPHA:424
Diarrhea 10, Protein-Losing Enteropathy Type
Secretory diarrhea, Hematochezia, Feeding difficulties, Recurrent upper respiratory tract infections OMIM:618183
Acrodermatitis Enteropathica
Anorexia, Chronic diarrhea, Poor appetite, Malabsorption ORPHA:37
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Abdominal distention, Diarrhea, Reye syndrome-like episodes, Vomiting, Acute hepatic failure, Hep... OMIM:256810
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Right ventricular dilatation, Right atrial enlargement, Left ventricular... ORPHA:99106
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Vomiting ORPHA:230
Lysinuric Protein Intolerance
Protein avoidance, Diarrhea, Vomiting, Nausea, Malnutrition OMIM:222700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Abdominal pain, Nausea ORPHA:98849
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Recurrent otitis media, Gastroesophageal reflux, Recurrent... OMIM:618268
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea OMIM:167100
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Recurrent infections, Chronic diarrhea, Vomiting, Malabsorption, Intestin... ORPHA:90363
Immunodeficiency 87 And Autoimmunity
Severe cytomegalovirus infection, Sepsis, Persistent EBV viremia, Necrotizing enterocolitis, Recu... OMIM:619573
Beta-Thalassemia Major
Diarrhea, Feeding difficulties, Chronic infection ORPHA:231214
Congenital Syphilis
Diarrhea, Meningitis, Malabsorption ORPHA:499009
Atrial Septal Defect, Coronary Sinus Type
Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary venous return, Right a... ORPHA:99104
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea OMIM:214700
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Diarrhea, Abdominal pain, Vomiting, Nausea, Severe infection ORPHA:340
Farber Disease
Chronic diarrhea, Feeding difficulties, Hepatic failure, Recurrent upper respiratory tract infect... ORPHA:333
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Recurrent infections, Recurrent urinary tract infections, Chronic diarrhe... ORPHA:99843
Congenital Disorder Of Glycosylation, Type It
Vomiting, Chronic diarrhea, Recurrent otitis media OMIM:614921
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent infections, Recurrent respiratory infections, Diarrhea, Feeding difficulties OMIM:618278
Neonatal Inflammatory Skin And Bowel Disease
Recurrent gastroenteritis, Bloody diarrhea, Recurrent bacterial skin infections ORPHA:294023
Cockayne Syndrome Type 1
Diarrhea ORPHA:90321
Distal Renal Tubular Acidosis
Diarrhea, Poor appetite, Vomiting, Constipation ORPHA:18
Cerebrotendinous Xanthomatosis
Diarrhea, Pseudobulbar paralysis OMIM:213700
Sandhoff Disease
Chronic diarrhea, Episodic abdominal pain OMIM:268800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Plague
Hematemesis, Anorexia, Sepsis, Diarrhea, Abdominal pain, Bloody diarrhea, Vomiting, Inflammation ... ORPHA:707
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Diarrhea, Protuberant abdomen, Inflammation of the large intestine, Enterocolitis, Ulcerative col... ORPHA:79259
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Dysphagia, Feeding difficulties OMIM:620358