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Gene: Tvp23b MGI:1914760

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Gene Summary

Name:
trans-golgi network vesicle protein 23B
Synonyms:
1810036I24Rik,  Fam18b

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Tvp23bem1(IMPC)J HOM Early adult 7.03×10-08

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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.

Eye Morphology

Images Ophthalmoscopy

3 Images

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Combined SHIRPA and Dysmorphology

Images

4 Images

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Electrocardiogram (ECG)

Waveform Image

12 Images

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Human diseases caused by Tvp23b 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 Tvp23b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Trehalase Deficiency
Abdominal pain, Diarrhea OMIM:612119
Diarrhea 9
Villous atrophy, Diarrhea, Failure to thrive OMIM:618168
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for... OMIM:613217
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... OMIM:142623
5-Oxoprolinase Deficiency
Abdominal pain, Vomiting, Diarrhea, Enterocolitis OMIM:260005
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Bile Acid Malabsorption, Primary, 1
Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat malabsorption OMIM:613291
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 6
Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease OMIM:614616
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Congenital Sucrase-Isomaltase Deficiency
Gastroesophageal reflux, Vomiting, Diarrhea, Failure to thrive, Abdominal colic, Abdominal pain, ... ORPHA:35122
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Abdominal colic, Villous atrophy OMIM:615863
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d... ORPHA:103907
Trehalase Deficiency
Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain ORPHA:103909
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Weight loss, Abdominal distention, Abdo... ORPHA:160148
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Vomiting, Failure to thrive, Abnormal intestine morphology, Feeding difficulties in inf... OMIM:606528
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Chronic constipation, Decreased body weigh... ORPHA:209964
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Enterocolitis, Rectovaginal ... OMIM:612567
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Weight loss, Co... ORPHA:26790
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Failure to thrive, Feeding difficulties, Weight loss... OMIM:620045
Hirschsprung Disease
Diarrhea, Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Int... ORPHA:388
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting OMIM:619367
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Crohn's disease, Failure to thrive, Mucoid diarrhea OMIM:615767
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Colonic eosinophilia, Chronic diarrhea, Ulcerative ... OMIM:617638
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Vomiting, Decreased intestinal transit time, Failure to thr... OMIM:615237
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Diarrhea 4, Malabsorptive, Congenital
Vomiting, Diarrhea, Failure to thrive OMIM:610370
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Malabsorption OMIM:222900
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Failure to thrive, Volvulus, Malnutrition, Villous atrophy, Abnormal small in... ORPHA:95427
Immunodeficiency 76
Colitis, Recurrent pneumonia, Chronic diarrhea OMIM:619164
Trichohepatoenteric Syndrome 2
Diarrhea, Failure to thrive, Bloody diarrhea, Villous atrophy, Chronic hepatitis, Colitis, Chroni... OMIM:614602
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Accumulation of lipid droplets in small-bowe... OMIM:246700
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Failure to thrive, Skin rash, Perianal abscess, Ga... OMIM:618108
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Minimal change glomerulonephritis OMIM:617006
Ménétrier Disease
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Gastroesophageal reflux, Malnutrition, Stomach c... ORPHA:2494
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting, Failure to thrive OMIM:614265
Rabies
Diarrhea, Nausea and vomiting, Anorexia ORPHA:770
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Diarrhea, Weight loss, Abdominal distention ORPHA:103910
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... OMIM:300635
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Recurrent pneumonia, Recurrent sinusitis, Colitis, Chronic d... OMIM:619281
Brunner Syndrome
Diarrhea OMIM:300615
Esophagitis, Eosinophilic, 1
Dysphagia, Vomiting, Esophagitis, Failure to thrive OMIM:610247
Esophagitis, Eosinophilic, 2
Dysphagia, Vomiting, Esophagitis, Failure to thrive OMIM:613412
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... ORPHA:263665
Eosinophilic Gastroenteritis
Allergic rhinitis, Hematochezia, Protein-losing enteropathy, Diarrhea, Vomiting, Atopic dermatiti... ORPHA:2070
Erythroderma Desquamativum
Seborrheic dermatitis, Diarrhea, Failure to thrive ORPHA:314
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Coproporphyria, Hereditary
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Increased fecal coproporphyrin III:copropor... OMIM:121300
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Autoinflammation With Infantile Enterocolitis
Secretory diarrhea, Failure to thrive, Villous atrophy, Skin rash, Feeding difficulties in infanc... OMIM:616050
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Immunodeficiency 70
Celiac disease, Recurrent sinusitis, Achalasia, Colitis, Furuncle OMIM:618969
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Failure to thrive, Eosin... ORPHA:411696
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Steatorrhea, Chronic diarrhea, Fat malabsorption ORPHA:309108
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Crohn's disease, Colitis, Chronic diarrhea, Bronchiectasis OMIM:618394
Mhc Class Ii Deficiency 1
Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Malabsorption, Villous... OMIM:209920
Diarrhea 13
Vomiting, Secretory diarrhea, Failure to thrive OMIM:620357
Complement Component 4B Deficiency
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Chron... OMIM:614379
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne OMIM:604416
Inflammatory Skin And Bowel Disease, Neonatal, 1
Blepharitis, Failure to thrive, Bloody diarrhea, Villous atrophy, Pustule, Erythroderma, Duodenitis OMIM:614328
Congenital Tufting Enteropathy
Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil... ORPHA:92050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Otit... OMIM:601457
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Chro... OMIM:616433
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity, Intermittent diarrhea, Feeding difficulties OMIM:620270
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Failure to thrive, Intussusception, Duodenal adenocarcinoma, Multiple gas... OMIM:174900
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Glutaric Aciduria Iii
Diarrhea, Vomiting, Failure to thrive, Goiter OMIM:231690
Dracunculiasis
Diarrhea, Nausea and vomiting, Skin rash, Arthritis, Recurrent cutaneous abscess formation ORPHA:231
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Acute colitis, Intestinal obstruction, Constrictive pericarditis, ... ORPHA:67
Immunodeficiency 19
Recurrent otitis media, Chronic diarrhea, Failure to thrive OMIM:615617
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Duodenal atresia, Intestinal malrotation, Psoriasif... OMIM:243150
Glucose/Galactose Malabsorption
Failure to thrive, Hyperactive bowel sounds, Malabsorption, Abdominal distention, Chronic diarrhea OMIM:606824
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Recurrent aspiration pneumonia, Intermittent diarrhea, Fee... OMIM:619971
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Esophageal varix ORPHA:75234
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Vomiting, Failure to thrive, Cachexia, Weight loss, Feeding difficulties OMIM:612075
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hematochezia, Protein-losing enteropathy, Diarrhea, Xerostomia, Vomiting, Gastrointestinal carcin... OMIM:175500
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Anorexia, Nausea and vomiting, Weight loss, Pancreatitis, Acholic stools, Abdomin... ORPHA:65682
Mpi-Cdg
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, D... ORPHA:79319
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Diarrhea, Failure to thrive OMIM:613501
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Vomiting, Abdominal pain, High palate, Necrotizing enterocolitis, Feeding difficulties OMIM:616809
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Early satiety, Colonic diverticula, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutriti... OMIM:603041
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Failure to thrive, Eczematoid dermatitis,... OMIM:618131
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ... OMIM:614700
Pancreatoblastoma
Diarrhea, Vomiting, Pancreatic calcification, Weight loss, Abdominal distention, Abdominal pain ORPHA:677
Shigellosis
Pneumonia, Hepatic failure, Vomiting, Uveitis, Conjunctivitis, Tenesmus, Ulcerative colitis, Fail... ORPHA:810
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Failure to thrive, Constipation ORPHA:309162
Reticular Dysgenesis
Diarrhea, Failure to thrive, Malabsorption, Skin rash, Weight loss, Chronic otitis media ORPHA:33355
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Nausea and vomiting, Weight loss, Anorexia ORPHA:178029
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation ORPHA:85447
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Mala... ORPHA:2930
Yao Syndrome
Uveitis, Diarrhea, Xerostomia, Inflammatory abnormality of the skin, Skin rash, Weight loss, Kera... OMIM:617321
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Recurrent sinusitis OMIM:613101
Mitochondrial Neurogastrointestinal Encephalomyopathy
Diarrhea, Gastroesophageal reflux, Vomiting, Cachexia, Weight loss, Gastrointestinal dysmotility,... ORPHA:298
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Failure to thrive, Chronic mucocutaneous candidiasis, Recurrent infecti... ORPHA:911
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Interstitial pneumonitis, Ulcerative colitis OMIM:614878
Bile Acid Synthesis Defect, Congenital, 2
Steatorrhea, Hepatic failure, Diarrhea, Failure to thrive OMIM:235555
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Diarrhea, Atopic dermatitis, ... ORPHA:436159
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Colonic eosinophilia, Membranous nephropathy, Eosinophilic ... OMIM:618999
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Fat malabsorption, Failure to thrive, Hepatocellular carcinoma OMIM:601847
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Esophageal stenosis OMIM:615190
Mitchell-Riley Syndrome
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... OMIM:615710
Meconium Ileus
Microcolon, Chronic diarrhea, Meconium ileus OMIM:614665
Glucose-Galactose Malabsorption
Diarrhea, Vomiting, Failure to thrive, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, ... ORPHA:35710
Folate Malabsorption, Hereditary
Malabsorption, Feeding difficulties in infancy, Diarrhea, Failure to thrive OMIM:229050
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Failure to thrive, Acholic stools, Steatorrhea, ... OMIM:607765
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent infect... OMIM:615207
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Congenital Disorder Of Glycosylation, Type Ib
Protein-losing enteropathy, Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Villous atrop... OMIM:602579
Autosomal Agammaglobulinemia
Diarrhea, Bronchiectasis, Failure to thrive, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, ... ORPHA:33110
Enteric Anendocrinosis
Vomiting, Diarrhea, Malabsorption ORPHA:83620
Neuroendocrine Tumor Of The Rectum
Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou... ORPHA:100082
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Failure to thrive, Eczematoid dermatitis, Chronic mucocutane... ORPHA:98813
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Failure to thrive in infancy, Colitis, Chronic diarrhea, Bronchiectasis OMIM:301220
Chylomicron Retention Disease
Diarrhea, Vomiting, Failure to thrive, Abdominal distention, Steatorrhea, Fat malabsorption ORPHA:71
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Chilblains, Intestinal inflammation, Membranoproliferative glomerulonephritis,... OMIM:619858
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Vomiting, Pancreatitis OMIM:620137
Isolated Agammaglobulinemia
Pneumonia, Diarrhea, Failure to thrive, Malabsorption, Otitis media, Skin rash, Arthritis, Sinusi... ORPHA:229717
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Chromosome 19P13.13 Deletion Syndrome
Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties OMIM:613638
Immunodeficiency 46
Conjunctivitis, Chronic diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:616740
Inflammatory Skin And Bowel Disease, Neonatal, 2
Recurrent pneumonia, Vomiting, Secretory diarrhea, Failure to thrive, Pustule OMIM:616069
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... ORPHA:37042
Maculopapular Cutaneous Mastocytosis
Nausea, Vomiting, Diarrhea, Abdominal pain ORPHA:79457
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Failure to thrive, Decreased pineal volume OMIM:301108
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Psoriasiform dermatitis, Lymphocytic infiltr... OMIM:616100
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Weight loss, Keratoconjunctivitis si... ORPHA:309031
Immunodeficiency 15B
Chronic diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:615592
Cog7-Cdg
Feeding difficulties, Diarrhea, Small for gestational age, Failure to thrive ORPHA:79333
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... ORPHA:324964
Malonyl-Coa Decarboxylase Deficiency
Vomiting, Diarrhea, Chronic constipation, Constipation, Abdominal pain OMIM:248360
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Diarrhea, Failure to thrive, Increased circulating prolactin concentrati... ORPHA:35708
Immunodeficiency 85 And Autoimmunity
Vomiting, Eczematoid dermatitis, Failure to thrive in infancy, Villous atrophy, Oligoarthritis, E... OMIM:619510
Immunodeficiency 48
Pneumonia, Chronic diarrhea, Failure to thrive, Eczematoid dermatitis OMIM:269840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Failure to thrive, Recurrent... ORPHA:277
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Chronic d... OMIM:300400
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Fat malabsorption, Failure to thrive OMIM:211600
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Immunodeficiency 69
Skin rash, Diarrhea, Failure to thrive OMIM:618963
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Cachexia, Steatorrhea, Chronic diarrhea ORPHA:3217
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Diarrhea, Hepatitis, Failure to thrive secondary to recurrent inf... ORPHA:169160
Neuroendocrine Tumor Of The Colon
Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Bowel urgency, Weight... ORPHA:100080
Rapadilino Syndrome
High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate OMIM:266280
American Trypanosomiasis
Diarrhea, Skin rash, Infectious encephalitis, Aganglionic megacolon, Achalasia, Myocarditis, Abdo... ORPHA:3386
Medullary Thyroid Carcinoma
Diarrhea, Pheochromocytoma, Weight loss, Nodular goiter, Dysphagia, Primary hyperparathyroidism ORPHA:1332
Intellectual Developmental Disorder, Autosomal Dominant 51
Failure to thrive, Recurrent otitis media, Cryptorchidism, Chronic constipation, Unilateral crypt... OMIM:617788
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Skin rash, Chronic constipation, Maculopapular... OMIM:142680
Sapho Syndrome
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Recurrent skin infec... ORPHA:793
Erythermalgia, Primary
Diarrhea, Xerostomia, Keratoconjunctivitis sicca, Constipation OMIM:133020
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Vomiting, Diarrhea, Hepatitis, Abdominal pain, M... ORPHA:319218
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Chronic sinusitis, Conjunctivitis OMIM:612692
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Infectious encephalitis, Constipation, Abdomina... ORPHA:99745
Immunodeficiency 97 With Autoinflammation
Diarrhea, Eczematoid dermatitis, Recurrent otitis media, Abdominal pain, Enterocolitis, Colitis, ... OMIM:619802
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Vomiting, Diarrhea, Bloody diarrhea, Rectal prolapse, Peritonitis, Pancreatitis, Abdominal pain, ... ORPHA:90038
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Inflammation of the large intestine, Viral hepatitis, Sclerosing cho... ORPHA:2137
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Hereditary Folate Malabsorption
Gastroesophageal reflux, Diarrhea, Failure to thrive, Nausea and vomiting, Anorexia, Glossitis, C... ORPHA:90045
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Vomiting, Diarrhea, Failure to thrive, Villous atrophy, High palate OMIM:601110
Graft Versus Host Disease
Pneumonia, Vomiting, Diarrhea, Failure to thrive, Inflammatory abnormality of the skin, Fasciitis... ORPHA:39812
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Obesity, Encopresis, Decreased body weight, Constipation, Abdo... ORPHA:589821
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Psoriasiform derma... OMIM:106300
Immunodeficiency 17
Anoperineal fistula, Failure to thrive, Eczematoid dermatitis, Recurrent otitis media, Recurrent ... OMIM:615607
Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:1267
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Hematochezia, Inflammation of the large intestine, Blepharitis, Recurrent pneumonia, Failure to t... OMIM:617718
Zygomycosis
Diarrhea, Ileitis, Pustule, Colitis, Acute infectious pneumonia, Abdominal pain, Endocarditis, Ga... ORPHA:73263
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Decreased liver function, Cryp... OMIM:608104
Porphyria, Acute Intermittent
Vomiting, Diarrhea, Paralytic ileus, Abdominal pain, Constipation, Nausea, Hepatocellular carcinoma OMIM:176000
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Pustular rash, Recurrent otitis media, Weight loss, Anorexia, Abdo... OMIM:619381
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Feeding difficulties in infancy, Vomiting, Failure to thrive OMIM:264350
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Macroglossia, Chronic diarrhea, Bronchi... OMIM:618523
Dyskeratosis Congenita, Autosomal Recessive 8
Esophageal stricture, Inflammation of the large intestine, Oral leukoplakia, Pancolitis OMIM:620133
Immunodeficiency 27A
Pneumonia, Diarrhea, Increased inflammatory response, Weight loss, Salmonella osteomyelitis, Anor... OMIM:209950
Familial Pancreatic Carcinoma
Intestinal pseudo-obstruction, Exocrine pancreatic insufficiency, Pancreatic adenocarcinoma, Naus... ORPHA:1333
Cyclic Neutropenia
Periodontitis, Otitis media, Perianal abscess, Peritonitis, Enterocolitis, Sinusitis, Abdominal p... ORPHA:2686
Acquired Hypertrichosis Lanuginosa
Weight loss, Macroglossia, Glossitis, Chronic diarrhea, Ovarian neoplasm, Poor appetite ORPHA:2221
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting, Skin rash ORPHA:29822
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Hepatic failure, Diarrhea, Failure to thrive, Hepatitis, Acholic stools, Steatorrhe... OMIM:613812
Combined Malonic And Methylmalonic Acidemia
Intermittent diarrhea, Vomiting, Failure to thrive, Nasogastric tube feeding ORPHA:289504
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic di... OMIM:613489
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Diarrhea, Decreased mitochondrial number, Nausea, Dysphagia, Poor appetite ORPHA:352447
Adiposis Dolorosa
Diarrhea, Xerostomia, Obesity, Constipation, Arthritis, Recurrent skin infections ORPHA:36397
Foodborne Botulism
Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia ORPHA:228371
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Diarrhea, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:618495
Neuroendocrine Neoplasm Of Appendix
Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sounds, Nausea and vomiting, Mec... ORPHA:100079
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Vomiting, Diarrhea, Failure to thrive, Reye syndrome-like episodes, Nausea, Feeding difficulties,... ORPHA:927
Refractory Celiac Disease
Protein-losing enteropathy, Inflammatory abnormality of the skin, Jejunitis, Malnutrition, Villou... ORPHA:398063
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Vomiting, Diarrhea, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... OMIM:226300
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,... OMIM:147060
Alg1-Cdg
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea, Decrease... ORPHA:79327
Neuroendocrine Tumor Of Stomach
Hepatic failure, Lack of bowel sounds, Protracted diarrhea, Anorexia, Nausea and vomiting, Zollin... ORPHA:100075
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Vomiting, Failure to thrive, Feeding difficulties OMIM:177735
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Crohn's disease, Periana... OMIM:618935
Hyperlipoproteinemia, Type Id
Colitis, Recurrent pancreatitis, Pancreatitis, Failure to thrive OMIM:615947
Porphyria Due To Ala Dehydratase Deficiency
Diarrhea, Increased fecal coproporphyrin 3, Abdominal pain, Constipation, Episodic vomiting, Abdo... ORPHA:100924
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent sinusitis, Conjunctivitis, Bronc... OMIM:240500
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea, Failure to thrive OMIM:615285
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Diarrhea, Gastroesophageal reflux, Vomiting, Decreased liver functio... ORPHA:85450
Caspase 8 Deficiency
Pneumonia, Chronic diarrhea, Failure to thrive, Eczematoid dermatitis OMIM:607271
Complement Component 5 Deficiency
Intractable diarrhea, Generalized seborrheic dermatitis OMIM:609536
Reactive Arthritis
Inflammation of the large intestine, Diarrhea, Osteomyelitis, Recurrent aphthous stomatitis, Pust... ORPHA:29207
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Recurrent sinusitis, Conjunctiv... OMIM:607594
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Diarrhea, Failure to thrive, Malabsorption, Protruding tongue, Sinusitis, Macroglossia... OMIM:242860
Congenital Toxoplasmosis
Failure to thrive in infancy, Diarrhea ORPHA:858
Grfoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97261
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Decreased body weight, High palate OMIM:607906
X-Linked Agammaglobulinemia
Recurrent pneumonia, Failure to thrive, Hepatitis, Osteomyelitis, Malabsorption, Skin rash, Gloss... ORPHA:47
Kaposi Sarcoma
Diarrhea, Abnormality of the gastrointestinal tract, Weight loss, Skin rash ORPHA:33276
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Failure to thrive, Eczematoid dermatitis, Hepatitis, Villous atrophy, Ileus, Erythroderma, Glomer... OMIM:304790
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Failure to thrive, Pancolitis, Eosinophilic infiltration of the esophagus, P... OMIM:618213
Rat-Bite Fever
Diarrhea, Vomiting, Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis,... ORPHA:31205
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Diarrhea OMIM:615399
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Diarrhea, Recurrent aphthous stomatitis, Bronchiectasis, Chronic oral candid... OMIM:150550
Immunodeficiency 7
Recurrent otitis media, Diarrhea, Failure to thrive, Chronic oral candidiasis OMIM:615387
Zollinger-Ellison Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Hyperparathyroidism, Pitu... ORPHA:913
Sandifer Syndrome
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Feeding diff... ORPHA:71272
Cutaneous Mastocytoma
Vomiting, Diarrhea, Abdominal pain, Nausea, Maculopapular exanthema ORPHA:79455
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Somatostatinoma
Gastrointestinal hemorrhage, Diarrhea, Pituitary adenoma, Lack of bowel sounds, Increased circula... ORPHA:97283
Sepsis In Premature Infants
Vomiting, Diarrhea, Decreased liver function, Functional abnormality of the gastrointestinal trac... ORPHA:90051
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Skin rash OMIM:601979
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Gastrointestinal infarctions, Nausea and vomiting... ORPHA:727
Lissencephaly, X-Linked, 2
Decreased testicular size, High palate, Diarrhea, Feeding difficulties in infancy OMIM:300215
Immunodeficiency 115 With Autoinflammation
Eczematoid dermatitis, Intermittent diarrhea, Superficial dermal perivascular inflammatory infilt... OMIM:620632
Celiac Disease, Susceptibility To, 1
Diarrhea, Vomiting, Failure to thrive, Eczematoid dermatitis, Recurrent aphthous stomatitis, Abdo... OMIM:212750
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Diarrhea, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulatin... OMIM:131100
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Failure to thrive, Chronic mucocutaneous candidiasis, Protracted diarrhea, Recurrent in... ORPHA:572
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Chronic diarrhea, Failure to thrive, Esophageal varix OMIM:614576
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Recurrent sinusitis, Rectal absce... OMIM:601495
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abdominal pain, Weight loss, Abnormal testis morphology ORPHA:54251
Glucagonoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97280
Juvenile Polyposis Of Infancy
High, narrow palate, Hematochezia, Intestinal bleeding, Diarrhea, Gastrointestinal hemorrhage, Pr... ORPHA:79076
Blue Diaper Syndrome
Increased body weight, Diarrhea ORPHA:94086
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist... OMIM:270420
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Lymphadenitis, Failure to thrive, Eczematoid d... OMIM:615895
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Malabsorption, Weight loss, Anor... ORPHA:98850
Cog4-Cdg
Failure to thrive in infancy, Recurrent infection of the gastrointestinal tract, Fatal liver fail... ORPHA:263501
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Diarrhea ORPHA:2575
Angioedema, Hereditary, 1
Intestinal edema, Vomiting, Diarrhea, Abdominal pain OMIM:106100
Bile Acid Malabsorption, Primary, 2
Steatorrhea, Chronic diarrhea OMIM:619481
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Ulcerative colitis, Cutaneous abscess ORPHA:555905
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Pyoderma, Aplasia of the thymus, C... OMIM:242700
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Thyroid hyperplasia, Goiter, Weight loss, Small for gestational age ORPHA:424
Thrombotic Thrombocytopenic Purpura
Abdominal pain, Diarrhea ORPHA:54057
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss, Bronchiectasis ORPHA:411703
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Vomiting, Diarrhea, Failure to thrive, Feeding difficulties OMIM:250940
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties ORPHA:79101
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, High palate, Diarrhea OMIM:614069
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Diarrhea, Failure to thrive in infancy, Pheochromocytom... OMIM:162300
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Galactosemia I
Vomiting, Diarrhea, Failure to thrive, Decreased liver function OMIM:230400
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Diarrhea, Periodontitis, Recurrent aphthous stomatitis, Recurrent infection of the gas... ORPHA:486
Necrotizing Enterocolitis
Vomiting, Diarrhea, Bloody diarrhea, Hypoactive bowel sounds, Peritonitis, Abdominal rigidity, Ab... ORPHA:391673
Dengue Fever
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Skin rash, Abdominal pain ORPHA:99828
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Vomiting, Diarrhea, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions,... ORPHA:544482
Mednik Syndrome
Microcolon, Diarrhea, Volvulus, Jejunal atresia OMIM:609313
Late-Onset Isolated Acth Deficiency
Diarrhea, Pituitary adenoma, Failure to thrive, Hepatitis, Nausea and vomiting, Hashimoto thyroid... ORPHA:199299
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, O... OMIM:614162
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Cystic Fibrosis
Recurrent pneumonia, Diarrhea, Bronchiectasis, Failure to thrive, Exocrine pancreatic insufficien... OMIM:219700
Systemic Capillary Leak Syndrome
Diarrhea, Weight loss, Pancreatitis, Myocarditis, Abdominal pain, Pericarditis ORPHA:188
Encephalopathy, Ethylmalonic
Chronic diarrhea, Failure to thrive, Feeding difficulties OMIM:602473
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Skin rash, Infectious encephalitis, Erythroderma, Colitis, Maculopapula... ORPHA:540
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Malnutrition, Erythroderma, Abdominal pain ORPHA:79456
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Chronic diarrhea, Pancreatitis OMIM:618805
Cholesteryl Ester Storage Disease
Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Acute hepatic failure, Protuberant abdome... OMIM:278000
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Failure to thrive in infancy, Chronic diarrhea, Skin rash, Abdominal pain, Panniculitis OMIM:617099
Familial Mediterranean Fever
Vomiting, Diarrhea, Erysipelas, Chronic constipation, Crohn's disease, Orchitis, Episodic abdomin... OMIM:249100
Osteootohepatoenteric Syndrome
Secretory diarrhea, Failure to thrive, Villous atrophy, Increased intestinal transit time, Weight... OMIM:619377
Immunodeficiency 92
Pneumonia, Osteomyelitis, Esophagitis, Sclerosing cholangitis, Cholangitis, Chronic diarrhea OMIM:619652
Hereditary Angioedema Type 1
Vomiting, Diarrhea, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Nausea, Dy... ORPHA:100050
Alg8-Cdg
Vomiting, Diarrhea, Failure to thrive, Abnormality of the gastrointestinal tract, Macroglossia, S... ORPHA:79325
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Diarrhea, Vomiting, Failure to thrive, Azoospermia, Cryptorchidism, Episod... ORPHA:361
Bone Dysplasia, Lethal Holmgren Type
Diarrhea, Weight loss, Nausea and vomiting, Failure to thrive ORPHA:1842
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:99819
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Bloody diarrhea, Neoplasm of the pancreas, Ovari... OMIM:175200
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Uveitis, Malabsorption, Infectious encephalitis, Myositis,... ORPHA:3452
Snakebite Envenomation
Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis, Hypopituitarism ORPHA:449285
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Osteomyelitis, Constipation, Osteoarthritis, Septic arthritis OMIM:608654
Plague
Inflammation of the large intestine, Vomiting, Diarrhea, Lymphadenitis, Chapped lip, Skin rash, I... ORPHA:707
Congenital Myopathy 20
High palate, Chronic diarrhea, Failure to thrive OMIM:620310
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Vomiting, Diarrhea OMIM:605911
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea, Failure to thrive OMIM:619484
Classic Galactosemia
Hepatic failure, Vomiting, Diarrhea, Cryptorchidism, Feeding difficulties ORPHA:79239
Syndromic Diarrhea
Intractable diarrhea, Bloody diarrhea, Villous atrophy, Hypoplasia of the thymus, Gastritis, Hepa... ORPHA:84064
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Vomiting, Cachexia, Diarrhea, Decreased liver function ORPHA:42
Boutonneuse Fever
Diarrhea, Skin rash, Abdominal pain, Nausea, Maculopapular exanthema ORPHA:83313
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Vomiting, Diarrhea, Erysipelas, Fasciitis, Skin rash, Intestinal obstruction, Orchitis, ... ORPHA:32960
Aa Amyloidosis
Vomiting, Malnutrition, Malabsorption, Abdominal pain, Nausea, Chronic diarrhea ORPHA:85445
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Vomiting, Diarrhea, Failure to thrive OMIM:560000
Lassa Fever
Diarrhea, Nausea and vomiting, Abdominal pain, Conjunctivitis, Dysphagia ORPHA:99824
Thymoma
Rheumatoid arthritis, Ulcerative colitis, Myositis, Weight loss, Glomerulonephritis, Neoplasm of ... ORPHA:99867
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Diarrhea, Bile duct proliferation OMIM:602347
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Diarrhea, Decreased response to growth hormone stimulation test, Recurrent otitis medi... OMIM:307200
Carcinoid Syndrome
Lack of bowel sounds, Protracted diarrhea, Nausea and vomiting, Episodic abdominal pain, Intestin... ORPHA:100093
Acrodermatitis Enteropathica
Cheilitis, Failure to thrive, Furrowed tongue, Malabsorption, Pustule, Weight loss, Anorexia, Con... ORPHA:37
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous cand... ORPHA:391487
Idiopathic Hypereosinophilic Syndrome
Vomiting, Inflammatory abnormality of the skin, Failure to thrive, Abdominal distention, Eczemato... ORPHA:3260
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting ORPHA:56425
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Carnitine Deficiency, Systemic Primary
Vomiting, Diarrhea, Failure to thrive OMIM:212140
Methanol Poisoning
Abdominal pain, Vomiting, Diarrhea ORPHA:31825
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Vomiting, Diarrhea, Failure to thrive, Pancreatitis, Tubulointerstitial nephritis, Feeding diffic... OMIM:251000
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Diarrhea, Failure to thrive, Eczematoid dermatitis, Recurrent infection of the gastroi... ORPHA:83471
Familial Mediterranean Fever
Diarrhea, Oral leukoplakia, Erysipelas, Acute hepatic failure, Gastrointestinal infarctions, Mala... ORPHA:342
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Vomiting, Diarrhea, Malar rash, Skin rash, Myositis, Abnormality o... ORPHA:93552
Immunodeficiency 22
Diarrhea, Failure to thrive, Protracted diarrhea, Chronic oral candidiasis, Panniculitis, Pericar... OMIM:615758
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Malabsorption, K... OMIM:240300
B4Galt1-Cdg
Inflammatory abnormality of the skin, Diarrhea, Small for gestational age ORPHA:79332
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Ileal Neuroendocrine Tumor
Hepatic failure, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Sm... ORPHA:100078
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Conjunctivitis, Nausea and vomiting, Episcleritis, Skin rash, Arthritis, Inflammatory a... ORPHA:36412
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Neoplasm of the col... ORPHA:556
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Cachexia, Weight loss, Prostatitis, Anorexia, Abdominal pain... ORPHA:2552
Specific Granule Deficiency 2
Recurrent otitis media, Intractable diarrhea, Recurrent pneumonia, Failure to thrive OMIM:617475
Legionnaires Disease
Diarrhea, Hepatitis, Nausea and vomiting, Infectious encephalitis, Pancreatitis, Anorexia, Myocar... ORPHA:549
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Abnormality of the an... ORPHA:2908
Shwachman-Diamond Syndrome 2
Diarrhea, Failure to thrive, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Steatorr... OMIM:617941
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Failure to thrive, Gout, Polycystic... ORPHA:79259
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotation, Psoriasiform der... ORPHA:436252
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma... ORPHA:90362
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Failure to thrive, Recurrent otitis media, Intestinal obstruction, Chronic diarrhea OMIM:600802
Bacterial Toxic-Shock Syndrome
Pneumonia, Vomiting, Diarrhea, Hepatitis, Fasciitis, Osteomyelitis, Skin rash, Infectious encepha... ORPHA:36234
Cocaine Intoxication
Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Glomerulonephritis, Tubulointerst... ORPHA:90068
Wild Type Attr Amyloidosis
Intermittent diarrhea, Gastrointestinal dysmotility, Weight loss, Chronic diarrhea, Bowel inconti... ORPHA:330001
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting ORPHA:90035
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, Chronic diarrhea, Failure to thrive OMIM:619824
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Diarrhea, Failure to thrive, Poor appetite OMIM:201100
Primary Hepatic Neuroendocrine Carcinoma
Diarrhea, Anorexia, Episodic abdominal pain, Neoplasm of the liver, Weight loss, Abdominal disten... ORPHA:100085
Car T Cell Therapy-Associated Cytokine Release Syndrome
Vomiting, Diarrhea, Skin rash, Increased inflammatory response, Nausea, Poor appetite ORPHA:542323
Bronchial Neuroendocrine Tumor
Pneumonia, Hepatic failure, Protracted diarrhea, Bowel urgency, Weight loss, Elevated circulating... ORPHA:97287
Lysosomal Acid Lipase Deficiency
Hepatic failure, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Malnutrition, F... ORPHA:275761
Omenn Syndrome
Pneumonia, Diarrhea, Failure to thrive, Hypoplasia of the thymus, Erythroderma OMIM:603554
Houge-Janssens Syndrome 1
Chronic diarrhea, Pyloric stenosis OMIM:616355
Turcot Syndrome With Polyposis
Hematochezia, Vomiting, Diarrhea, Pituitary adenoma, Adenomatous colonic polyposis, Intestinal po... ORPHA:99818
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Diarrhea, Chronic mucocutaneous candidiasis, Failure to thrive, Skin rash, Recurrent c... ORPHA:276
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Bloody diarrhea, Anal fissure, Perianal dermatitis, Psoriasiform dermatitis, Recurre... ORPHA:294023
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczematoid dermatitis, Failure to thrive in infancy, Villous atrophy, Psoriasiform dermatitis, Er... OMIM:606367
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Weight loss, P... ORPHA:36426
Immunodeficiency 9
Failure to thrive, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Chronic diarrhea, Sto... OMIM:612782
Neuroblastoma, Susceptibility To, 1
Diarrhea, Abdominal pain, Weight loss, Failure to thrive OMIM:256700
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Vomiting, Large for gestational age, Diarrhea ORPHA:263455
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Absent uvula, Intestinal atresia, Rectovaginal fistula, Dysp... OMIM:619708
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Vomiting, Diarrhea, Failure to thrive, Polycystic ovaries, Increased body weight, Hepatocellular ... ORPHA:264580
Mitochondrial Dna Depletion Syndrome 11
Nausea, Chronic diarrhea OMIM:615084
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Vomiting, Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation OMIM:223900
Primary Sclerosing Cholangitis
Cholelithiasis, Uveitis, Hepatitis, Acute hepatic failure, Abdominal pain, Weight loss, Chronic h... ORPHA:171
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Pheochromocytoma, Nausea and vomiting, Gastrointestinal st... ORPHA:139411
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Rectal abscess, Chronic diarrhea OMIM:116920
Immunodeficiency 112
Chronic diarrhea, Chronic mucocutaneous candidiasis OMIM:620449
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... ORPHA:90363
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Failure to thrive OMIM:610768
Hereditary Fructose Intolerance
Vomiting, Diarrhea, Abdominal pain, Constipation, Chronic hepatic failure, Abdominal distention, ... ORPHA:469
Sweet Syndrome
Inflammation of the large intestine, Acne inversa, Predominantly dermal neutrophilic infiltrate, ... ORPHA:3243
Pediatric-Onset Graves Disease
Diarrhea, Keratitis, Failure to thrive, Goiter, Episcleritis, Nausea and vomiting ORPHA:525731
Infantile Systemic Hyalinosis
Failure to thrive, Malabsorption, Polycystic ovaries, Abnormality of the gastrointestinal tract, ... ORPHA:2176
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Vomiting, Diarrhea ORPHA:3240
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Stomach cancer, Cutaneous abscess, Otitis... ORPHA:331235
Avian Influenza
Pneumonia, Myelitis, Vomiting, Diarrhea, Hepatitis, Infectious encephalitis, Conjunctivitis, Abdo... ORPHA:454836
Good Syndrome
Diarrhea, Sinusitis, Recurrent skin infections, Dysphagia, Bronchiectasis ORPHA:169105
Diarrhea 1, Secretory Chloride, Congenital
Secretory diarrhea, Failure to thrive, Abdominal distention, Elevated stool chloride content OMIM:214700
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Failure to thrive, Acute hepatic failure, Maculopapular exanthema, Membranop... OMIM:619644
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Rectocele, Failure to thrive, Protein-losing... ORPHA:2929
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Fat malabsorption, Malnutrition, Decreased body weight ORPHA:96180
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Failure to thrive, Otitis media, Constipation, High palate, Intermittent diarrhea, Feed... OMIM:618050
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Familial Hypoaldosteronism
Diarrhea, Nausea and vomiting, Failure to thrive, Feeding difficulties ORPHA:427
19P13.13 Microdeletion Syndrome
Vomiting, Diarrhea, Functional abnormality of the gastrointestinal tract, Abdominal pain, Macrogl... ORPHA:357001
Phoar2-Enteropathy Syndrome
Acne, Seborrheic dermatitis, Secretory diarrhea OMIM:614441
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Diarrhea, Failure to thrive, Parotitis, Abdominal pain, Arthritis, Conjunctivi... OMIM:620376
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Inflammation of the large intestine, Interface hepatitis, Sclerosing cholangitis, Granulomatous c... ORPHA:562639
Biotinidase Deficiency
Vomiting, Diarrhea, Skin rash, Feeding difficulties in infancy, Seborrheic dermatitis, Conjunctiv... OMIM:253260
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Recurrent pneumonia, Eczematoid dermatitis, Recurr... OMIM:301000
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Hepatitis, Failure to thrive, Enteroviral encephalitis, Sclerosing cholangitis, Chronic... OMIM:308230
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Vomiting, Diarrhea, Polycystic ovaries, Increased body weight, Hepatocellular adenoma, Nausea, He... ORPHA:79240
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Hepatic failure, Small for gestational age, Secretory diarrhea, Feeding diffi... OMIM:619573
Acute Intermittent Porphyria
Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,... ORPHA:79276
Hyper-Igd Syndrome
Vomiting, Diarrhea, Lymphadenitis, Skin rash, Arthritis, Chronic oral candidiasis, Abdominal pain... OMIM:260920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Diarrhea, Inflammatory abnormality of the skin, Failure to thrive... OMIM:102700
Young-Onset Parkinson Disease
Gastroparesis, Diarrhea, Nausea, Constipation ORPHA:2828
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Failure to thrive, Cryptorchidism, Chronic constipation, Feeding difficu... ORPHA:500055
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Chronic diarrhea OMIM:620603
Developmental And Epileptic Encephalopathy 50
Diarrhea, Dysphagia, Failure to thrive OMIM:616457
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Peptic ulcer, Diarrhea, Pituitary adenoma, Parathyroid carcinoma, Pituitary ... ORPHA:276152
Glycogen Storage Disease Ib
Inflammation of the large intestine, Gout, Pancreatitis, Protuberant abdomen, Pancreatic fibrosis... OMIM:232220
Congenital Disorder Of Glycosylation, Type Ia
Vomiting, Diarrhea, Failure to thrive, Villous atrophy, Feeding difficulties in infancy, Steatorr... OMIM:212065
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Diarrhea, Intestinal pseudo-obstruction, Recurrent otitis media, Macroglossia OMIM:309900
Pearson Marrow-Pancreas Syndrome
Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insufficiency, Villous atrophy,... OMIM:557000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Rectovaginal fistula, Failure to thrive in infancy, Recurrent infection of t... ORPHA:35078
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Vomiting, Diarrhea, Interstitial pneumonitis ORPHA:454831
Fumarase Deficiency
Hepatic failure, Failure to thrive, Mitochondrial swelling, High palate, Necrotizing enterocolitis OMIM:606812
Relapsing Fever
Abdominal pain, Vomiting, Diarrhea ORPHA:91547
Wiskott-Aldrich Syndrome
Hematochezia, Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis,... ORPHA:906
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, Diarrhea OMIM:619313
Citrullinemia Type Ii
Diarrhea, Vomiting, Decreased body mass index, Pancreatitis, Hepatocellular carcinoma ORPHA:247585
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Vomiting, Gastroesophageal reflux, Failure to thrive, Recurrent otitis media, Abdominal distentio... OMIM:620233
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Gastrostomy tube feeding in inf... OMIM:613385
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Decreased testicular size, Cryptorchidism, Decreas... OMIM:617053
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Diarrhea, Gastroesophageal reflux, Constipation OMIM:608643
Omenn Syndrome
Pneumonia, Failure to thrive, Erythroderma, Chronic diarrhea, Thyroiditis ORPHA:39041
Fabry Disease
Vomiting, Diarrhea, Tenesmus, Abdominal pain, Nausea OMIM:301500
Alternating Hemiplegia Of Childhood
Vomiting, Diarrhea, Failure to thrive, Oral-pharyngeal dysphagia, Abdominal distention, Gastroint... ORPHA:2131
Immunodeficiency 25
Recurrent pneumonia, Erythroderma, Protracted diarrhea OMIM:610163
Lujo Hemorrhagic Fever
Abdominal cramps, Vomiting, Diarrhea, Skin rash, Maculopapular exanthema, Myocarditis, Nausea, Rh... ORPHA:319213
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Hematochezia, Pneumonia, Diarrhea, Atopic dermatitis, Hepatitis, Chilblains, ... OMIM:615846
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Vomiting, Diarrhea, Superficial dermal perivascular inflammatory inf... ORPHA:324636
Multiple Endocrine Neoplasia Type 1
Diarrhea, Pituitary prolactin cell adenoma, Pituitary thyrotropic cell adenoma, Pituitary null ce... ORPHA:652
Vipoma
Secretory diarrhea, Pituitary adenoma, Increased circulating prolactin concentration, Abnormal ga... ORPHA:97282
Mevalonic Aciduria
Vomiting, Diarrhea, Failure to thrive, Failure to thrive in infancy, Morbilliform rash, Skin rash OMIM:610377
Cholera
Vomiting, Diarrhea, Aspiration pneumonia, Achlorhydria, Abdominal pain, Abdominal cramps ORPHA:173
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Diarrhea, Chronic mucocutaneous candidiasis, Failure to thrive in infancy, Recurrent gastroenteri... ORPHA:79124
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... OMIM:233600
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Vomiting, Diarrhea, Failure to thrive, Acute hepatic failure, Feeding difficulties in infancy ORPHA:71212
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Addison Disease
Diarrhea, Failure to thrive, Nausea and vomiting, Hashimoto thyroiditis, Abdominal pain, Weight l... ORPHA:85138
Dyskeratosis Congenita, Autosomal Dominant 2
Oral leukoplakia, Chronic diarrhea, Failure to thrive, Esophageal stricture OMIM:613989
Amyloidosis, Hereditary Systemic 1
Diarrhea, Episodic vomiting, Constipation OMIM:105210
Congenital Syphilis
Pneumonia, Diarrhea, Keratitis, Malabsorption, Synovitis, Rhinitis, Pancreatitis, Myocarditis, Hi... ORPHA:499009
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Diarrhea, Abdominal pain, Weight loss, Nausea ORPHA:98849
Beta-Ketothiolase Deficiency
Diarrhea, Vomiting, Weight loss, Anorexia ORPHA:134
Trichothiodystrophy 5, Nonphotosensitive
Panhypopituitarism, Decreased testicular size, Chronic diarrhea OMIM:300953
Autoimmune Lymphoproliferative Syndrome
Uveitis, Hepatitis, Recurrent aphthous stomatitis, Gastritis, Neoplasm of the tongue, Glomerulone... ORPHA:3261
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Failure to thrive, Otitis media, Aplasia of the thymus, Chronic diarrhea OMIM:602450
Transcobalamin Ii Deficiency
Vomiting, Diarrhea, Failure to thrive OMIM:275350
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Dominant Beta-Thalassemia
Diarrhea, Failure to thrive in infancy, Hypopituitarism, Chronic hepatitis, Hypoparathyroidism, F... ORPHA:231226
Trichothiodystrophy 1, Photosensitive
Malabsorption, Intestinal obstruction, Keratoconjunctivitis sicca, Erythroderma, Chronic diarrhea... OMIM:601675
Chronic Graft Versus Host Disease
Diarrhea, Gastroesophageal reflux, Xerostomia, Urinary bladder inflammation, Fasciitis, Abnormal ... ORPHA:99921
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Protein-losing enteropathy, Secretory diarrhea, Cryptorchidism, Feeding difficulties OMIM:618183
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Chronic pancreatitis, Hepatoblastoma, Stomatitis, Hepa... OMIM:232240
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis, Secretory diarrhea OMIM:167100
Imerslund-Grasbeck Syndrome 2
Diarrhea OMIM:618882
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Dysphagia, Failure to thrive, Feeding difficulties OMIM:620358
Melas
Vomiting, Diarrhea, Failure to thrive, Intestinal pseudo-obstruction, Gastrointestinal dysmotilit... ORPHA:550
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Vomiting, Diarrhea, Skin rash, Episodic vomiting OMIM:618321
Listeriosis
Pneumonia, Arteritis, Vomiting, Diarrhea, Septic arthritis, Osteomyelitis, Pyelonephritis, Cholec... ORPHA:533
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Iridocyclitis, Weight loss, Arthri... OMIM:181000
Lysinuric Protein Intolerance
Vomiting, Diarrhea, Failure to thrive, Malnutrition, Protein avoidance, Pancreatitis, Truncal obe... OMIM:222700
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Vomiting, Diarrhea, Failure to thrive, Acute hepatic failure, Reye syndrome-like... OMIM:256810
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Keratoconjunc... OMIM:158310
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Diarrhea, Abnormal tongue morphology, Ganglioneuromatosis, Pheochromo...