Gene: Slc26a3 MGI:107181

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

solute carrier family 26, member 3

Synonyms:

9030623B18Rik, Dra, 9130013M11Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Slc26a3 mutations

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

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

Human diseases associated with Slc26a3 (1 diseases)
Human diseases predicted to be associated with Slc26a3 (767 diseases)

The table below shows human diseases associated to Slc26a3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Diarrhea 1, Secretory Chloride, Congenital		Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Elevated stool chloride con...	OMIM:214700

The table below shows human diseases predicted to be associated to Slc26a3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Elevated stool chloride con...	OMIM:214700
Solitary Rectal Ulcer Syndrome	Intermittent diarrhea, Bloody mucoid diarrhea, Hematochezia, Chronic constipation, Tenesmus, Anal...	ORPHA:209964
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperaldosteronism, Feeding difficulties in infancy, Hyperkalemia, Failure to thrive, Hyperactive...	OMIM:264350
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperaldosteronism, Feeding difficulties, Increased circulating renin level, Hyperkalemia, Failur...	OMIM:177735
Juvenile Polyposis Syndrome	Hematochezia, Colon cancer, Multiple gastric polyps, Hypokalemia, Abdominal pain, Neoplasm of the...	OMIM:174900
Lactose Intolerance, Adult Type	Flatulence, Abdominal pain, Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lact...	OMIM:223100
Diarrhea 7, Protein-Losing Enteropathy Type	Villous atrophy, Protein-losing enteropathy, Failure to thrive, Hyperlipidemia, Abdominal colic, ...	OMIM:615863
Central Diabetes Insipidus	Diabetes insipidus, Anorexia, Failure to thrive, Diarrhea, Nausea and vomiting, Hyponatremia, Wei...	ORPHA:178029
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperaldosteronism, Increased circulating renin level, Hyponatremia, Hyperkalemia, Vomiting	OMIM:620126
Visceral Myopathy 2	Intestinal malrotation, Gastroesophageal reflux, Megaduodenum, Chronic constipation, Hiatus herni...	OMIM:619350
Hyperchlorhidrosis, Isolated	Feeding difficulties, Hyponatremia, Failure to thrive, Hyperkalemia	OMIM:143860
Corticosterone Methyloxidase Type I Deficiency	Increased circulating renin level, Decreased circulating aldosterone level, Hyponatremia, Hyperka...	OMIM:203400
Early-Onset Familial Hypoaldosteronism	Feeding difficulties, Increased circulating renin level, Vomiting, Decreased circulating aldoster...	ORPHA:556030
Late-Onset Familial Hypoaldosteronism	Increased circulating renin level, Vomiting, Decreased circulating aldosterone level, Abnormal ci...	ORPHA:556037
Hypoadrenocorticism, Familial	Adrenal hypoplasia, Hyponatremia, Hyperkalemia, Adrenal insufficiency, Feeding difficulties in in...	OMIM:240200
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Vomiting, Acute colitis, Pancreatitis, Hypokalemia, Abdominal pain, Unconjugated hyp...	ORPHA:90038
Generalized Pseudohypoaldosteronism Type 1	Increased circulating renin level, Abnormal circulating aldosterone, Feeding difficulties in infa...	ORPHA:171876
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimu...	OMIM:617872
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the rectum, Neoplasm of the liver, Abdominal pain, Anal canal squamous cell carcinoma...	ORPHA:424019
Adrenocortical Carcinoma	Increased circulating androstenedione concentration, Hyperaldosteronism, Elevated serum 11-deoxyc...	ORPHA:1501
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypokalemia, Failure to thrive, Hyponatremia	OMIM:613090
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Abdominal pain, Constipation, Adrenocorticotropic hormone deficiency, Hashimo...	ORPHA:199299
Familial Glucocorticoid Deficiency	Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Abnorm...	ORPHA:361
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ...	ORPHA:404
Peutz-Jeghers Syndrome	Neoplasm of the rectum, Abnormality of the gastrointestinal tract, Esophageal neoplasm, Gastroint...	ORPHA:2869
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin...	OMIM:614736
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Steatorrhea, Failure to thrive, Hypotriglyceridemia, Dia...	OMIM:246700
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating renin level, Decreased circulating aldosterone level, Increased circulating...	OMIM:610600
Hyperaldosteronism, Familial, Type Ii	Hyperaldosteronism, Hypokalemia	OMIM:605635
Homozygous 11P15-P14 Deletion Syndrome	Abnormal intestine morphology, Hyperinsulinemia, Failure to thrive, Diarrhea, Feeding difficultie...	OMIM:606528
Bartter Syndrome, Type 1, Antenatal	Hyperaldosteronism, Small for gestational age, Hypochloremia, Hyperchloriduria, Increased circula...	OMIM:601678
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Ulcerative colitis, Elevated circulating C-reactive protein concentration	OMIM:619398
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Glossitis, Hematochezia, Malabsorption, Anorexia, Xerostomia, Protein-losing enteropathy, Hypokal...	OMIM:175500
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypochloremia, Increased circulating renin level, Hypokalemia	OMIM:300971
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia	OMIM:620125
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Abnormal circulating porphyrin concentration, Abdominal distent...	ORPHA:100924
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Nausea, Secretory adrenocortical ad...	ORPHA:403
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia, Abnormal salivary gland morphology	ORPHA:3225
Trehalase Deficiency	Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting	ORPHA:103909
Bartter Syndrome Type 4	Hyperaldosteronism, Small for gestational age, Hypochloremia, Increased circulating renin level, ...	ORPHA:89938
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperleucinemia, Failure to thrive...	OMIM:620085
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abnormal blood ion concentration, Central hypothyroidism, Malabsorp...	ORPHA:95427
Familial Hypoaldosteronism	Feeding difficulties, Increased circulating renin level, Decreased circulating aldosterone level,...	ORPHA:427
Addison Disease	Delayed puberty, Thymoma, Hypoparathyroidism, Abdominal pain, Constipation, Primary adrenal insuf...	ORPHA:85138
Ganglioneuroma	Multiple intestinal neurofibromatosis, Colorectal polyposis, Hamartomatous polyposis, Gastrointes...	ORPHA:251992
Adrenal Hypoplasia, Congenital	Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea...	OMIM:300200
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Increased circulating progesterone, Prematur...	ORPHA:90794
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ...	ORPHA:251274
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Intestinal obstruction, Functional a...	ORPHA:388
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abdominal distention, Protein-losing enteropathy, Abnormal circulating protein conc...	ORPHA:103910
Bartter Syndrome, Type 2, Antenatal	Hyperaldosteronism, Small for gestational age, Hypochloremia, Hyperchloriduria, Increased circula...	OMIM:241200
Juvenile Polyposis Of Infancy	Hematochezia, Protein-losing enteropathy, Cachexia, Abdominal pain, High, narrow palate, Hamartom...	ORPHA:79076
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Hypokalemia, Nausea, Dexamet...	ORPHA:369929
Ménétrier Disease	Hypoproteinemia, Gastroesophageal reflux, Malnutrition, Poor appetite, Multiple gastric polyps, A...	ORPHA:2494
Intestinal Dysmotility Syndrome	High palate, Feeding difficulties, Abdominal distention, Decreased intestinal transit time, Failu...	OMIM:620045
Diarrhea 9	Villous atrophy, Diarrhea, Failure to thrive	OMIM:618168
Acute Adrenal Insufficiency	Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Hyperuricemia, Increased c...	ORPHA:95409
Hereditary Coproporphyria	Hepatocellular carcinoma, Abnormal circulating porphyrin concentration, Abdominal pain, Nausea, S...	ORPHA:79273
Snakebite Envenomation	Hypopituitarism, Pseudobulbar paralysis, Hyponatremia, Neuromuscular dysphagia, Diarrhea, Vomiting	ORPHA:449285
Alg8-Cdg	Macroglossia, Abnormality of the gastrointestinal tract, Small for gestational age, Feeding diffi...	ORPHA:79325
Glucose-Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Diarrhea, Malnutrition, Hypern...	ORPHA:35710
Shigellosis	Peritonitis, Abnormal blood ion concentration, Bloody mucoid diarrhea, Abdominal cramps, Tenesmus...	ORPHA:810
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Increased serum testosterone level, Cryptorc...	ORPHA:90791
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Secondary hyperaldosteronism, Intestinal lymphe...	ORPHA:90363
Mirage Syndrome	Adrenal hypoplasia, Gastroesophageal reflux, Cryptorchidism, Decreased testicular size, Achalasia...	OMIM:617053
Ectopic Aldosterone-Producing Tumor	Adrenocortical adenoma, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Nause...	ORPHA:231632
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Protein-losing enteropath...	OMIM:618183
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Abnormal esophagus physiology, Gastroesophageal reflux, Poor appetite, Dysphagia, Poor suck, Gast...	ORPHA:2198
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypokalemia, Failure to thrive, Hyponatremia	OMIM:602522
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Feeding difficulties, Hyperuricemia, Diabetes mellitus, Increased blood urea nitrogen, Failure to...	OMIM:613845
Axin2-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer	ORPHA:401911
Bile Acid Malabsorption, Primary, 1	Fat malabsorption, Steatorrhea, Failure to thrive, Increased fecal bile acid, Chronic diarrhea	OMIM:613291
Lysosomal Acid Lipase Deficiency	Cachexia, Abdominal pain, Xanthelasma, Decreased liver function, Malnutrition, Primary adrenal in...	ORPHA:275761
Restrictive Dermopathy 2	Rectal prolapse, Gastroesophageal reflux, Feeding difficulties	OMIM:619793
Infant Botulism	Bowel incontinence, Anorexia, Xerostomia, Abdominal pain, Dysphagia, Constipation, Hyponatremia	ORPHA:178478
Diarrhea 5, With Tufting Enteropathy, Congenital	Small for gestational age, Crypt hyperplasia, Villous atrophy, Intractable diarrhea, Failure to t...	OMIM:613217
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hypopituitarism, Precocious puberty, Increased circulating prolactin concentration, Decreased res...	ORPHA:91354
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Increased circulating cortisol level, Hypokalemia, Glucocortocoid-insensitive primary hyperaldost...	ORPHA:231625
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome	OMIM:103900
Hyperkalemic Periodic Paralysis	Bowel incontinence, Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia...	ORPHA:682
Sucrase-Isomaltase Deficiency, Congenital	Malabsorption, Diarrhea, Abdominal pain	OMIM:222900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Adrenal hyperplasia, Increased circulating ACTH level, Abnormal circulating androgen level, Hyper...	ORPHA:90790
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Hematochezia, Malabsorption, Steatorrhea, Protein-losi...	ORPHA:2070
Adenohypophysitis	Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prolactin concentratio...	ORPHA:95512
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Nausea, ...	ORPHA:231580
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Adrenal hyperplasia, Hyperaldosteronism, Hypokalemia	OMIM:613677
Congenital Isolated Acth Deficiency	Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Hyperkalemia, Hyponatrem...	ORPHA:199296
Whipple Disease	Malabsorption, Anorexia, Cachexia, Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Hypothy...	ORPHA:3452
Cap Polyposis	Hematochezia, Colorectal polyposis, Abdominal distention, Abdominal pain, Constipation, Atrophic ...	ORPHA:160148
Chronic Diarrhea Due To Glucoamylase Deficiency	Malabsorption, Abdominal distention, Dyspepsia, Abdominal pain, Nausea, Decreased small intestina...	ORPHA:103907
Diarrhea 8, Secretory Sodium, Congenital	Elevated fecal sodium, Abdominal distention, Inflammation of the large intestine, Secretory diarrhea	OMIM:616868
Peutz-Jeghers Syndrome	Precocious puberty with Sertoli cell tumor, Neoplasm of the pancreas, Multiple gastric polyps, Ab...	OMIM:175200
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Recurrent aphthous stomatitis, Intestinal obstruction, Ulcer...	OMIM:266600
Cholesteryl Ester Storage Disease	Adrenal calcification, Esophageal varix, Hypertriglyceridemia, Diarrhea, Nausea and vomiting, Hep...	ORPHA:75234
Cholera	Abnormal blood ion concentration, Achlorhydria, Hypokalemia, Abdominal pain, Diarrhea, Hypocalcem...	ORPHA:173
Necrotizing Enterocolitis	Peritonitis, Small for gestational age, Abdominal distention, Bloody diarrhea, Diarrhea, Vomiting...	ORPHA:391673
Panhypophysitis	Adrenocorticotropin deficient adrenal insufficiency, Increased circulating prolactin concentratio...	ORPHA:95513
Angioedema, Hereditary, 8	Episodic vomiting, Diarrhea, Abdominal pain	OMIM:619367
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypocalcemia, Hypokalemia, Hypomagnesemia	OMIM:620152
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Abnormal circulating aldosterone, Decreased circulating renin level, Decreased serum creatinine, ...	OMIM:300539
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614495
5-Oxoprolinase Deficiency	Abdominal pain, Diarrhea, Vomiting, Enterocolitis	OMIM:260005
Vipoma	Adrenocortical adenoma, Diabetes mellitus, Increased circulating cortisol level, Malabsorption, H...	ORPHA:97282
Lactase Deficiency, Congenital	Diarrhea, Lactose intolerance, Decreased small intestinal mucosa lactase level	OMIM:223000
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Nephrogenic diabetes insipidus, Failure to thrive, Constipation, Feeding difficulties in infancy,...	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Diabetes insipidus, Failure to thrive, Constipation, Feeding difficulties in infancy, Hypernatrem...	OMIM:304800
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Abdominal pain, Diarrhea, Weight loss	OMIM:191390
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Steatorrhea, Abdominal distention, Decreased intestinal tra...	OMIM:615237
Sheehan Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Breast hypoplasia, De...	ORPHA:91355
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Villous atrophy, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Mpi-Cdg	Protein-losing enteropathy, Failure to thrive, Gastrointestinal hemorrhage, Diarrhea, Hyperinsuli...	ORPHA:79319
Trichohepatoenteric Syndrome 2	Small for gestational age, Villous atrophy, Colitis, Failure to thrive, Bloody diarrhea, Diarrhea...	OMIM:614602
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Hepatocellular Carcinoma	Poor appetite, Anorexia, Abdominal distention, Hypokalemia, Esophageal varix, Abdominal pain, Hyp...	ORPHA:88673
Porphyria Variegata	Hepatocellular carcinoma, Ileus, Inappropriate antidiuretic hormone secretion, Abnormal circulati...	ORPHA:79473
Wolcott-Rallison Syndrome	Acute hepatic failure, Exocrine pancreatic insufficiency, Hyperammonemia, Neonatal insulin-depend...	ORPHA:1667
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia	OMIM:614496
East Syndrome	Increased circulating renin level, Hyperaldosteronism, Hypokalemia, Hypomagnesemia	ORPHA:199343
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased circulating renin level, Hypokalemia, Abnormal magnesium concentration, Increased serum...	OMIM:241150
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimulation test, Increa...	ORPHA:189427
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Blue Rubber Bleb Nevus	Rectal prolapse, Volvulus, Intussusception, Intestinal bleeding	OMIM:112200
Colchicine Poisoning	Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Nausea, Hypocalcemia, Diarrhea, ...	ORPHA:31824
Ppoma	Adrenocortical adenoma, Increased circulating cortisol level, Constipation, Cholelithiasis, Hypoa...	ORPHA:97278
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Pseudohypoaldosteronism, Decreased circulating renin level, Hyperkalemia	OMIM:614492
Cystinosis	Delayed puberty, Hypophosphatemia, Malabsorption, Nephrogenic diabetes insipidus, Hypokalemia, Fa...	ORPHA:213
Inflammatory Bowel Disease (Crohn Disease) 30	Abnormal intestine morphology, Protein-losing enteropathy, Duodenitis, Esophagitis, Gastritis, Ab...	OMIM:619079
Liddle Syndrome	Constipation, Hypokalemia	ORPHA:526
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Elevated circulating follicle stimulating hormone level, Primary adrenal insuffi...	ORPHA:289548
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia, Hiatus hernia, Abnormal rectum morphology	ORPHA:101009
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Hypokalemia, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circ...	OMIM:613239
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Elevated circulating follicle stimulating hormone level, Primary adrenal insuffi...	ORPHA:168558
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Slender build, Malabsorption, Cachexia, Abdominal pain, Constipation, Elevated circulating thymid...	OMIM:603041
Intellectual Developmental Disorder, Autosomal Dominant 70	Feeding difficulties, Hyponatremia, Failure to thrive	OMIM:620157
Rabies	Nausea and vomiting, Anorexia, Diarrhea	ORPHA:770
Leprechaunism	Megarectum, Hyperaldosteronism, Increased circulating renin level, Central hypothyroidism, Abdomi...	ORPHA:508
Immunodeficiency 104	Failure to thrive secondary to recurrent infections, Gastroesophageal reflux, Diarrhea	OMIM:608971
Infection-Related Hemolytic Uremic Syndrome	Secretory diarrhea, Diabetes mellitus, Pancreatitis, Acute colitis, Gastrointestinal infarctions,...	ORPHA:544482
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Abdominal distention, Protein-losing enteropathy, Decreased circulating T4 concen...	OMIM:608104
Proprotein Convertase 1/3 Deficiency	Malabsorption, Villous atrophy, Hypoinsulinemia, Diarrhea, Hypogonadotropic hypogonadism, Decreas...	OMIM:600955
Radiation Proctitis	Rectal fistula, Hematochezia, Tenesmus, Intestinal obstruction, Rectal abscess, Diarrhea, Abnorma...	ORPHA:70475
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Increased intestinal transit time, Villous atrophy, Hypokalemia, Abdom...	OMIM:619377
Zollinger-Ellison Syndrome	Adrenocortical adenoma, Hyperparathyroidism, Increased circulating cortisol level, Elevated circu...	ORPHA:913
Acute Intermittent Porphyria	Hepatocellular carcinoma, Ileus, Pseudobulbar paralysis, Abdominal distention, Abdominal pain, Co...	ORPHA:79276
Grfoma	Adrenocortical adenoma, Increased circulating cortisol level, Constipation, Cholelithiasis, Hypoa...	ORPHA:97261
Congenital Sucrase-Isomaltase Deficiency	Abdominal colic, Abdominal distention, Diarrhea, Vomiting	ORPHA:35122
Adenocarcinoma Of The Anal Canal	Neoplasm of the rectum, Anal canal adenocarcinoma, Neoplasm of the liver, Abdominal pain, Intesti...	ORPHA:424016
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc...	OMIM:267700
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Atrophic muscularis propria, ...	ORPHA:298
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Feeding difficulties, Poor appetite, Hypouricemia, Hypokalemia, Hyponatremia, F...	ORPHA:411634
Enterokinase Deficiency	Hypoproteinemia, Diarrhea, Failure to thrive	OMIM:226200
Somatostatinoma	Adrenocortical adenoma, Diabetes mellitus, Increased circulating cortisol level, Medullary thyroi...	ORPHA:97283
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Vomiting, Hypokalemia, Failure to thrive	OMIM:602722
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Blue Diaper Syndrome	Hyperphosphatemia, Decreased circulating T4 concentration, Elevated circulating thyroid-stimulati...	ORPHA:94086
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Villous atrophy, Protein-losing enteropathy, Failure to thrive, Diarrhea, Hyperinsul...	OMIM:602579
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Nephrogenic Diabetes Insipidus	Feeding difficulties, Anorexia, Nephrogenic diabetes insipidus, Failure to thrive, Constipation, ...	ORPHA:223
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Hashimoto thyroiditis, Hypothyroidism, Nausea and vomiting, Hyponatremia	ORPHA:83601
Coproporphyria, Hereditary	Increased fecal coproporphyrin 3, Abdominal pain, Constipation, Diarrhea, Increased fecal copropo...	OMIM:121300
Legionnaires Disease	Pancreatitis, Anorexia, Abdominal pain, Diarrhea, Nausea and vomiting, Hyponatremia	ORPHA:549
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Episodic hyperhidrosis, Increased blood urea nitrogen, Constipation, Dia...	OMIM:223900
Folate Malabsorption, Hereditary	Malabsorption, Feeding difficulties in infancy, Diarrhea, Failure to thrive	OMIM:229050
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Adrenal insufficiency, Hyperaldosteronism, Adrenocorticotropic hormone excess	OMIM:613743
Apparent Mineralocorticoid Excess	Small for gestational age, Decreased circulating aldosterone level, Hypokalemia, Failure to thriv...	OMIM:218030
Multiple Endocrine Neoplasia, Type I	Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Peptic ulcer...	OMIM:131100
Renal Hypoplasia, Bilateral	Small for gestational age, Cryptorchidism, Feeding difficulties, Failure to thrive, Hyperkalemia,...	ORPHA:97362
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Neuroleptic Malignant Syndrome	Hyperuricemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemi...	ORPHA:94093
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Reduced circulating growth hormone concentration, Malabsorption, Failure to thrive, Eosinophilic ...	OMIM:615508
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Gastroesophageal reflux, Feeding difficulties, Hyponatremia, Hypokalemia, Failure to thrive, Poor...	OMIM:618426
Pituitary Apoplexy	Nausea and vomiting, Hypopituitarism, Elevated circulating growth hormone concentration, Increase...	ORPHA:95613
Diarrhea 12, With Microvillus Atrophy	Microvillar PAS-positive secretory granules, Villous atrophy, Abdominal distention, Dependency on...	OMIM:619445
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Hyperammonemia, Pancreatitis, Abdominal pain, Diarrhea, Vomiting	OMIM:620137
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Failure to thrive, Hyperbilirubinemia, Diarrhea, Hepatic failure	OMIM:235555
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting, Failure to thrive	OMIM:610370
Bile Acid Synthesis Defect, Congenital, 1	Steatorrhea, Hepatic failure, Conjugated hyperbilirubinemia, Failure to thrive, Diarrhea, Hypocho...	OMIM:607765
Reticular Dysgenesis	Aplasia/Hypoplasia of the thymus, Malabsorption, Failure to thrive, Diarrhea, Weight loss	ORPHA:33355
Hyperaldosteronism, Familial, Type Iv	Hyperaldosteronism	OMIM:617027
Bartter Syndrome, Type 3	Hyperaldosteronism, Increased circulating renin level, Hyperchloriduria, Hypokalemia, Hyperactive...	OMIM:607364
Refractory Celiac Disease	Hypoproteinemia, Hypophosphatemia, Malabsorption, Villous atrophy, Protein-losing enteropathy, Ab...	ORPHA:398063
Mitchell-Riley Syndrome	Pancreatic hypoplasia, Anteriorly placed anus, Duodenal atresia, Diabetes mellitus, Malabsorption...	OMIM:615710
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Thyroid lymphangiectasia, Protein-losing enteropathy, Narrow palate, Rectal prola...	OMIM:235510
Cystic Fibrosis	Ileus, Pancreatitis, Steatorrhea, Meconium ileus, Failure to thrive, Diarrhea, Rectal prolapse, E...	OMIM:219700
Gitelman Syndrome	Graves disease, Delayed puberty, Maternal diabetes, Nausea and vomiting, Hashimoto thyroiditis, N...	ORPHA:358
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Hypokalemia, Weight loss, Hyperthyroidism	OMIM:188580
Autoinflammation With Infantile Enterocolitis	Feeding difficulties in infancy, Villous atrophy, Failure to thrive, Elevated circulating C-react...	OMIM:616050
Chylomicron Retention Disease	Steatorrhea, Abdominal distention, Failure to thrive, Hypertriglyceridemia, Diarrhea, Vomiting, H...	ORPHA:71
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Inflammation of the large intestine, Crohn's disease, Failure to thrive	OMIM:615767
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatocellular carcinoma, Conjugated hyperbilirubinemia, Failure to thrive, Diarrhea, Fat malabso...	OMIM:601847
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Primary hyperaldosteronism, Hypokalemia	OMIM:615474
Cog7-Cdg	Small for gestational age, Feeding difficulties, Elevated circulating creatine kinase concentrati...	ORPHA:79333
Congenital Tufting Enteropathy	Anal atresia, Secretory diarrhea, Malabsorption, Steatorrhea, Villous atrophy, Abdominal distenti...	ORPHA:92050
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	High palate, Gastroesophageal reflux, Feeding difficulties, Hypokalemia, Dysphagia, Hypocalcemia,...	OMIM:617913
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Adrenocorticotropin deficient adrenal insufficiency, Decreased circulating cortisol level, Decrea...	ORPHA:293978
Glucagonoma	Adrenocortical adenoma, Diabetes mellitus, Increased circulating cortisol level, Constipation, Po...	ORPHA:97280
Herpes Simplex Virus Encephalitis	Nausea and vomiting, Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Failure to thrive, Hyperactive bowel sounds, Chronic diarrhea	OMIM:606824
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Increased circulating renin level, Hyperaldosteronism, Hypokalemia, Hypomagnesemia	OMIM:612780
Alg12-Cdg	Intestinal malrotation, Gastroesophageal reflux, Cryptorchidism, Feeding difficulties, Failure to...	ORPHA:79324
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting, Failure to thrive	OMIM:614265
Enteric Anendocrinosis	Malabsorption, Diarrhea, Type I diabetes mellitus, Vomiting	ORPHA:83620
Webb-Dattani Syndrome	Gastroesophageal reflux, Cryptorchidism, Diabetes insipidus, Decreased response to growth hormone...	OMIM:615926
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hyperammonemia, Feeding difficulties, Hyperglutaminemia, Poor appetite, Acute hyperammonemia, Hyp...	ORPHA:927
Nk-Cell Enteropathy	Gastric ulcer, Intestinal polyp, Gastroesophageal reflux, Hematochezia, Abdominal pain, Stercoral...	ORPHA:263665
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Hyperaldosteronism, Gastroesophageal reflux, Hypophosphatemia, Hypercholesterole...	ORPHA:534
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Abnormal intestine morphology, Malabsorption, Intestinal obstruction, Abdominal ...	OMIM:226300
Cronkhite-Canada Syndrome	Colon cancer, Furrowed tongue, Malabsorption, Anorexia, Cachexia, Abdominal pain, Stomach cancer,...	ORPHA:2930
Mitochondrial Complex I Deficiency, Nuclear Type 32	Vomiting, Small for gestational age, Hyponatremia, Failure to thrive	OMIM:618252
Brunner Syndrome	Diarrhea	OMIM:300615
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Elevated circulating follicle stimulating hormone level, Hypokalemia, Increased ...	ORPHA:90793
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Failure to thrive, Increased ci...	OMIM:603553
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Feedin...	ORPHA:79644
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Impaired cortisol response to corticotropin releasing hormone stimulation test, Adrenal hyperplas...	OMIM:201810
Dubowitz Syndrome	High palate, Cryptorchidism, Malabsorption, Hypoparathyroidism, Submucous cleft hard palate, Rect...	ORPHA:235
Immunodeficiency 69	Increased circulating ferritin concentration, Diarrhea, Failure to thrive	OMIM:618963
Multiple Endocrine Neoplasia Type 4	Thymoma, Parathyroid carcinoma, Adrenocortical adenoma, Hyperparathyroidism, Increased circulatin...	ORPHA:276152
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Vascular Hyalinosis	Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Rabin-Pappas Syndrome	Failure to thrive in infancy, Feeding difficulties, Hyponatremia, Obesity	OMIM:620155
Cystic Fibrosis	Gastroesophageal reflux, Decreased body mass index, Malabsorption, Steatorrhea, Meconium ileus, F...	ORPHA:586
Dietary Iron Overload Disease	Hepatocellular carcinoma, Peritonitis, Elevated transferrin saturation, Diabetes mellitus, Increa...	ORPHA:139507
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Failure to thrive, Diarrhea, Cholelithiasis, Fat malabsorption	OMIM:211600
Familial Dysautonomia	Hypohidrosis, Gastroesophageal reflux, Hyperhidrosis, Feeding difficulties in infancy, Hyponatremia	ORPHA:1764
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Feeding difficulties, Cachexia, Failure to thrive, Diarrhea, Vomiting, Weight loss	OMIM:612075
Cystinosis, Nephropathic	Delayed puberty, Exocrine pancreatic insufficiency, Hypohidrosis, Hypophosphatemia, Diabetes mell...	OMIM:219800
Galactosemia I	Hypergalactosemia, Increased level of galactitol in plasma, Increased level of galactonate in red...	OMIM:230400
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Increased circulating renin level, Hyperphosphat...	OMIM:601198
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, High palate, Increased blood urea nitrogen, Hypomagn...	OMIM:223360
46,Xy Sex Reversal 4	Anal atresia, High palate, Increased blood urea nitrogen, Cleft palate, Hypergonadotropic hypogon...	OMIM:154230
Diarrhea 6	Abdominal pain, Chronic diarrhea, Crohn's disease	OMIM:614616
Sandhoff Disease, Juvenile Form	Dysphagia, Diarrhea, Constipation, Failure to thrive	ORPHA:309162
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Diarrhea, Increased blood urea nitrogen, Elevated circulating creatinine concentr...	OMIM:235400
Aica-Ribosuria Due To Atic Deficiency	Hyponatremia	OMIM:608688
Fanconi-Bickel Syndrome	Hypophosphatemia, Poor appetite, Hypouricemia, Malabsorption, Hypergalactosemia, Abdominal disten...	OMIM:227810
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Methylmalonic acidemia, Failure to thrive, Dicarboxylic acidemia, Nasogast...	ORPHA:289504
Cholesteryl Ester Storage Disease	Acute hepatic failure, Increased LDL cholesterol concentration, Protuberant abdomen, Steatorrhea,...	OMIM:278000
Hereditary Central Diabetes Insipidus	Diabetes insipidus, Diarrhea, Vomiting, Weight loss	ORPHA:30925
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Constipation, Diarrhea, Hyperhidrosis	OMIM:615548
Interstitial Nephritis, Karyomegalic	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:614817
Immunodeficiency 48	Diarrhea, Failure to thrive	OMIM:269840
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Abnormality of the gastrointestinal tract...	ORPHA:85450
Amoebiasis Due To Entamoeba Histolytica	Acute colitis, Intestinal obstruction, Protracted diarrhea, Abdominal pain, Bloody diarrhea, Diar...	ORPHA:67
Dopamine Beta-Hydroxylase Deficiency	Hyperinsulinemia, Increased blood urea nitrogen, Diarrhea, Vomiting, Elevated circulating creatin...	ORPHA:230
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Midgut malrotation, Nausea and vomiting, Poor appetite, Episodic abd...	ORPHA:100079
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Anorexia, Hypokalemia, Failure to thrive	OMIM:611590
Thymic Neuroendocrine Tumor	Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact...	ORPHA:97289
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Recurrent aphthous stomatitis, Anoperineal fistula, Colitis, Abdominal pain, Diarrhea, Elevated c...	OMIM:613960
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Adrenal hypoplasia, Gastroesophageal reflux, Feeding difficulties, Pylo...	OMIM:613177
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Failure to thrive, Gastritis, Perianal abscess, Diarrhea	OMIM:618108
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Ileal atresia, Hematochezia, Duodenal atresia, Rectal atresia, Jejunal ...	OMIM:243150
Holoprosencephaly	Gastroesophageal reflux, Cryptorchidism, Median cleft lip and palate, Diabetes mellitus, Diabetes...	ORPHA:2162
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Episodic vomiting, Hyperalaninemia, Low plasm...	OMIM:615751
Mednik Syndrome	Increased circulating very long-chain fatty acid concentration, Jejunal atresia, Volvulus, Neonat...	OMIM:609313
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Intermittent diarrhea, Gastroesophageal reflux, Feeding difficulties, Malnutrition	OMIM:619971
Neuroendocrine Tumor Of The Rectum	Hematochezia, Tenesmus, Lack of bowel sounds, Anorexia, Protracted diarrhea, Abdominal pain, Incr...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Tenesmus, Lack of bowel sounds, Anorexia, Protracted diarrhea, Abdominal pain, Incr...	ORPHA:100082
Visceral Myopathy 1	Megaduodenum, Pancreatitis, Abdominal distention, Aganglionic megacolon, Abdominal pain, Dysphagi...	OMIM:155310
Satoyoshi Syndrome	Malabsorption, Mildly elevated creatine kinase, Diarrhea	OMIM:600705
Hereditary Renal Hypouricemia	Hypouricemia, Nausea, Vomiting, Increased blood urea nitrogen	ORPHA:94088
Alg1-Cdg	Abnormality of the gastrointestinal tract, Protein-losing enteropathy, Decreased liver function, ...	ORPHA:79327
Liver Disease, Severe Congenital	Peritonitis, Elevated circulating alpha-fetoprotein concentration, Hyperalaninemia, Protein-losin...	OMIM:619991
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Feeding difficulties, Anteriorly placed anus, Aganglionic megacolon, Cleft palate, Constipation, ...	OMIM:239300
Igg4-Related Retroperitoneal Fibrosis	Hashimoto thyroiditis, Anorexia, Increased blood urea nitrogen, Abdominal pain, Constipation, Ele...	ORPHA:49041
Benign Recurrent Intrahepatic Cholestasis	Hepatocellular carcinoma, Nausea and vomiting, Pancreatitis, Anorexia, Abdominal pain, Weight los...	ORPHA:65682
Japanese Encephalitis	Inappropriate antidiuretic hormone secretion, Anorexia, Hyponatremia, Abdominal pain, Diarrhea, V...	ORPHA:79139
Glycogen Storage Disease Ixb	Diarrhea, Hyperuricemia	OMIM:261750
Galactosemia	Cryptorchidism, Feeding difficulties, Hypergalactosemia, Increased level of galactitol in plasma,...	ORPHA:352
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Delayed puberty, Hypohidrosis, Feeding difficulties, Increased circulating prolactin concentratio...	ORPHA:293987
Bile Acid Synthesis Defect, Congenital, 3	Hematochezia, Steatorrhea, Bile duct proliferation, Failure to thrive, Hyperbilirubinemia, Diarrh...	OMIM:613812
Medullary Thyroid Carcinoma	Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Dysphagia, Di...	ORPHA:1332
Paternal Uniparental Disomy Of Chromosome 1	Delayed puberty, Increased blood urea nitrogen, Anhidrosis, Hypercalcemia, Obesity	ORPHA:251004
Glutaric Aciduria Iii	Goiter, Hyperthyroidism, Failure to thrive, Diarrhea, Vomiting	OMIM:231690
Liddle Syndrome 2	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia	OMIM:618126
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anoperineal fistula, Colitis, Villous atrophy, Intractable diarrhea, Gastritis, Abdomin...	OMIM:619381
Citrullinemia Type Ii	Hepatocellular carcinoma, Hypoproteinemia, Decreased body mass index, Acute hyperammonemia, Pancr...	ORPHA:247585
Pancreatic Colipase Deficiency	Steatorrhea, Cholelithiasis, Fat malabsorption, Chronic diarrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Poor appetite, Elevated circulating creatine kinase concentration, Hypergonadotropic hypogonadism...	ORPHA:352447
Celiac Disease, Susceptibility To, 1	Delayed puberty, Stomatitis, Vomiting, Recurrent aphthous stomatitis, Steatorrhea, Abdominal dist...	OMIM:212750
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Methionine Malabsorption Syndrome	Positive ferric chloride test, Diarrhea	OMIM:250900
Carcinoid Syndrome	Small intestine carcinoid, Lack of bowel sounds, Abnormal B-type natriuretic peptide concentratio...	ORPHA:100093
Andersen-Tawil Syndrome	Hyperaldosteronism, High palate	ORPHA:37553
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Multiple Endocrine Neoplasia Type 1	Thymoma, Parathyroid carcinoma, Increased circulating cortisol level, Insulinoma, Abdominal pain,...	ORPHA:652
Pyruvate Carboxylase Deficiency	Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Anorexia, Elevated plasma citrulline, Failure...	ORPHA:3008
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Hypokalemia, Elevated circulating creatinine concentration	OMIM:179800
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Testicular adrenal rest tumor, Increased ser...	ORPHA:90795
Liddle Syndrome 1	Decreased circulating renin level, Decreased circulating aldosterone level, Hypokalemia	OMIM:177200
Neuroendocrine Tumor Of The Colon	Lack of bowel sounds, Anorexia, Protracted diarrhea, Abdominal pain, Increased serum serotonin, B...	ORPHA:100080
Thrombotic Thrombocytopenic Purpura	Diarrhea, Decreased serum creatinine, Abdominal pain	ORPHA:54057
Mercury Poisoning	Anorexia, Hypokalemia, Nausea, Episodic abdominal pain, Episodic vomiting	ORPHA:330021
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Neoplasm of the rectum, Hepatocellular carcinoma, Malabsorption, N...	ORPHA:440437
Cockayne Syndrome Type 1	Hypohidrosis, Cryptorchidism, Increased blood urea nitrogen, Failure to thrive, Diarrhea, Male hy...	ORPHA:90321
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Hypokalemia	OMIM:604278
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Increased blood urea nitrogen	ORPHA:94059
Neuroendocrine Tumor Of Stomach	Intermittent diarrhea, Nausea and vomiting, Increased circulating ACTH level, Poor appetite, Epis...	ORPHA:100075
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hyperammonemia, Decreased plasma total carnitine, Cachexia, Elevated circulating creatine kinase ...	ORPHA:42
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio...	ORPHA:247598
Cholestasis, Progressive Familial Intrahepatic, 3	Increased serum bile acid concentration, Bile duct proliferation, Diarrhea, Malabsorption	OMIM:602347
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased circulating cortisol level	OMIM:611489
Apparent Mineralocorticoid Excess	Abnormality of circulating cortisol level, Decreased circulating aldosterone level, Hypokalemia, ...	ORPHA:320
Porphyria	Abnormal circulating porphyrin concentration, Anorexia, Abdominal pain, Constipation, Diarrhea, N...	ORPHA:738
Isolated Agammaglobulinemia	Malabsorption, Diarrhea, Failure to thrive	ORPHA:229717
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase, Adrenocortical adenoma	ORPHA:681
Cog4-Cdg	Intermittent diarrhea, Feeding difficulties, Fatal liver failure in infancy, Failure to thrive in...	ORPHA:263501
Hereditary Mixed Polyposis Syndrome	Neoplasm of the rectum, Hyperplastic colonic polyposis, Hematochezia, Juvenile colonic polyposis,...	ORPHA:157794
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	High palate, Gastroesophageal reflux, Feeding difficulties, Pseudohypoparathyroidism, Failure to ...	OMIM:617157
Combined Oxidative Phosphorylation Deficiency 3	Hyperammonemia, Elevated circulating creatine kinase concentration, Poor suck, Feeding difficulti...	OMIM:610505
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Increased stool alpha1-antitrypsin concentration, Functional abnormality of the ...	ORPHA:90362
Hereditary Fructose Intolerance	Hypophosphatemia, Hyperuricemia, Abdominal distention, Hypermagnesemia, Episodic hyperhidrosis, A...	ORPHA:469
Aa Amyloidosis	Malabsorption, Abdominal pain, Adrenal insufficiency, Nausea, Hypothyroidism, Malnutrition, Vomit...	ORPHA:85445
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Pancreatic islet-cell hyperplasia, Abnormal circulating fatty-acid con...	ORPHA:263455
Hyperprolinemia Type 2	Feeding difficulties, Hyperalaninemia, Abdominal pain, Dysphagia, Hyperprolinemia, Diarrhea, Hype...	ORPHA:79101
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Chronic constipation, Anoperineal fistula, Colitis, Esophagi...	OMIM:301074
Methanol Poisoning	Abdominal pain, Hyperlipidemia, Diarrhea, Type II diabetes mellitus, Type I diabetes mellitus, Vo...	ORPHA:31825
Gastrointestinal Stromal Tumor	Neoplasm of the rectum, Intestinal obstruction, Neoplasm of the stomach, Dysphagia, Constipation,...	ORPHA:44890
Carnitine Deficiency, Systemic Primary	Hyperammonemia, Elevated circulating creatine kinase concentration, Failure to thrive, Diarrhea, ...	OMIM:212140
Attrv30M Amyloidosis	Constipation, Diarrhea, Weight loss	ORPHA:85447
Immunodeficiency 27A	Anorexia, Diarrhea, Weight loss, Hypoalbuminemia	OMIM:209950
Bile Acid Malabsorption, Primary, 2	Steatorrhea, Decreased circulating chenodeoxycholic acid concentration, Chronic diarrhea	OMIM:619481
Carnitine Palmitoyltransferase I Deficiency	Hyperammonemia, Feeding difficulties, Transient hyperlipidemia, Elevated circulating creatine kin...	OMIM:255120
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Hyperammonemia, Abnormal circulating acetylcarnitine concentration, Fastin...	ORPHA:71212
Maternal Uniparental Disomy Of Chromosome 4	Fat malabsorption, Decreased LDL cholesterol concentration, Diabetes insipidus, Abetalipoproteine...	ORPHA:96180
Autosomal Recessive Polycystic Kidney Disease	Fat malabsorption, Feeding difficulties, Protein-losing enteropathy, Hepatoblastoma, Cholangiocar...	ORPHA:731
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Small for gestational age, Cryptorchidism, Elevated circulating creatine kinase conce...	OMIM:301056
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Failure to thrive in infancy, Chronic diarrhea, Hypoalbuminemia	OMIM:618805
Immunodeficiency 11B With Atopic Dermatitis	Chronic diarrhea, Ulcerative colitis, Colonic eosinophilia	OMIM:617638
Infantile Nephropathic Cystinosis	Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Failure to thrive, Constipation,...	ORPHA:411629
Familial Pancreatic Carcinoma	Intermittent diarrhea, Nausea and vomiting, Neoplasm of the liver, Colon cancer, Diabetes mellitu...	ORPHA:1333
Congenital Disorder Of Glycosylation, Type Id	High palate, Bifid uvula, Villous atrophy, Failure to thrive, Diarrhea, Vomiting	OMIM:601110
Thyrotoxic Periodic Paralysis	Graves disease, Thyrotoxicosis with toxic multinodular goiter, Thyrotoxicosis with toxic single t...	ORPHA:79102
Congenital Disorder Of Glycosylation, Type Ii	High palate, Gastroesophageal reflux, Diarrhea, Nasogastric tube feeding, Hypothyroidism, Decreas...	OMIM:607906
Williams-Beuren Syndrome	Gastroesophageal reflux, Chronic constipation, Diabetes mellitus, Feeding difficulties in infancy...	OMIM:194050
Gitelman Syndrome	Delayed puberty, Increased circulating renin level, Hypokalemia, Abdominal pain, Failure to thriv...	OMIM:263800
Inflammatory Skin And Bowel Disease, Neonatal, 1	Bloody diarrhea, Villous atrophy, Duodenitis, Failure to thrive	OMIM:614328
Williams Syndrome	Malabsorption, Elevated circulating creatine kinase concentration, Abdominal pain, Constipation, ...	ORPHA:904
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hypogonadism, Poor appetite, Failure to thrive, Diarrhea, Decreased se...	OMIM:201100
Bronchial Neuroendocrine Tumor	Elevated circulating growth hormone concentration, Increased circulating ACTH level, Poor appetit...	ORPHA:97287
Rapadilino Syndrome	High palate, Feeding difficulties, High, narrow palate, Cleft palate, Diarrhea	OMIM:266280
Fanconi Anemia, Complementation Group O	Anal atresia, Cryptorchidism, Rectal atresia, Neonatal death	OMIM:613390
X-Linked Agammaglobulinemia	Malabsorption, Failure to thrive, Glossoptosis, Hypocalcemia, Chronic diarrhea, Weight loss	ORPHA:47
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Hypoargininemia, Hyperammonemia, Feeding difficulties, Hyperalaninemia, Failur...	OMIM:620358
Immunodeficiency 87 And Autoimmunity	Small for gestational age, Feeding difficulties, Increased fecal calprotectin level, Villous atro...	OMIM:619573
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea, Failure to thrive	OMIM:613501
B4Galt1-Cdg	Small for gestational age, Decreased LDL cholesterol concentration, Elevated circulating creatine...	ORPHA:79332
Immunodeficiency 76	Colitis, Chronic diarrhea	OMIM:619164
Chronic Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hypernatremia, Feeding difficulties, Hypoalbuminemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Neonatal hyperbilirubinemia, Hypernatremia, Feeding difficulties, Hypoalbuminemia	ORPHA:529799
Hyaline Fibromatosis Syndrome	Diarrhea, Failure to thrive	OMIM:228600
Congenital-Onset Steinert Myotonic Dystrophy	Gastroesophageal reflux, Abdominal pain, Dysphagia, Encopresis, Constipation, Diarrhea, Decreased...	ORPHA:589821
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abdominal pain, Diarrhea, Elevated circulating C-reactive protein concentration, Abnormal testis ...	ORPHA:54251
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Hyperzincemia With Functional Zinc Depletion	Increased serum zinc, Diarrhea	OMIM:601979
Primary Hepatic Neuroendocrine Carcinoma	Neoplasm of the liver, Elevated circulating alpha-fetoprotein concentration, Anorexia, Abdominal ...	ORPHA:100085
Pearson Syndrome	Exocrine pancreatic insufficiency, Small for gestational age, Hypophosphatemia, Pancreatic fibros...	ORPHA:699
Pancreatoblastoma	Pancreatic calcification, Abdominal distention, Abdominal pain, Diarrhea, Elevated maternal serum...	ORPHA:677
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Increased circulating ACTH level, Ele...	OMIM:201750
Helix Syndrome	Hypohidrosis, Hyperparathyroidism, Xerostomia, Hypermagnesemia, Hypokalemia, Anhidrosis	OMIM:617671
Multiple Endocrine Neoplasia, Type Iib	High palate, Elevated calcitonin, Nodular goiter, Parathyroid hyperplasia, Pheochromocytoma, Fail...	OMIM:162300
Chromosome 19P13.13 Deletion Syndrome	Feeding difficulties, Abdominal pain, Constipation, Diarrhea, Vomiting	OMIM:613638
Myopathy, Myofibrillar, 1	Constipation, Diarrhea	OMIM:601419
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Increased serum testosterone level, Decrease...	OMIM:202010
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Abnormality of the pituitary gland, Central adrenal insufficiency, Hypokalemia, ...	ORPHA:91347
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Diarrhea, Failure to thrive	OMIM:601457
Maculopapular Cutaneous Mastocytosis	Diarrhea, Nausea, Vomiting, Abdominal pain	ORPHA:79457
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Decreased circulating parathyroid hormone level, Malabsorption, Hypoparathyroidism, Decreased cir...	OMIM:240300
Nelson Syndrome	Increased circulating prolactin concentration, Pituitary corticotropic cell adenoma, Increased ci...	ORPHA:199244
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatocellular carcinoma, Delayed puberty, Hepatocellular adenoma, Polycystic ovaries, Elevated c...	ORPHA:370
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Steatorrhea, Cachexia, Duodenal ulcer, Chronic diarrhea	ORPHA:3217
Mccune-Albright Syndrome	Goiter, Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Hypopho...	ORPHA:562
Malonyl-Coa Decarboxylase Deficiency	Chronic constipation, Abdominal pain, Constipation, Diarrhea, Vomiting	OMIM:248360
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Dracunculiasis	Nausea and vomiting, Diarrhea	ORPHA:231
Pseudohypoaldosteronism, Type Iia	Pseudohypoaldosteronism, Hyperkalemia	OMIM:145260
Lynch Syndrome	Neoplasm of the thyroid gland, Neoplasm of the rectum, Hepatocellular carcinoma, Colon cancer, Ma...	ORPHA:144
Autoinflammatory-Pancytopenia Syndrome	Intestinal inflammation, Type I diabetes mellitus, Chronic diarrhea, Failure to thrive	OMIM:619858
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Polycystic ovaries, Elevated circulating creatine kinase...	ORPHA:264580
Immunodeficiency 19	Chronic diarrhea, Failure to thrive	OMIM:615617
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Malabsorption, Colitis, Cachexia, Gastritis, Nasogastric tube feeding, Hypothyroidism, Hypomagnes...	ORPHA:37042
Dengue Fever	Hypoproteinemia, Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting	ORPHA:99828
Autosomal Agammaglobulinemia	Malabsorption, High palate, Diarrhea, Failure to thrive	ORPHA:33110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612926
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea, Conjugated hyperbilirubinemia, Failure to thrive	OMIM:619484
Immunodeficiency 40	Rectal fistula, Focal active colitis, Intermittent diarrhea, Chronic diarrhea	OMIM:616433
Encephalopathy, Ethylmalonic	Feeding difficulties, Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Fail...	OMIM:602473
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612924
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Malabsorption, Failure to thrive, Protruding tongue, Diarrhea	OMIM:242860
Chédiak-Higashi Syndrome	Hypoproteinemia, Hypertriglyceridemia, Decreased liver function, Increased circulating ferritin c...	ORPHA:167
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Malabsorption, Recurrent infection of the gastrointestinal tract, Failure to...	ORPHA:83471
Aggressive Systemic Mastocytosis	Malabsorption, Anorexia, Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Decreased liver f...	ORPHA:98850
Congenital Toxoplasmosis	Failure to thrive in infancy, Diarrhea	ORPHA:858
Acquired Hypertrichosis Lanuginosa	Macroglossia, Glossitis, Poor appetite, Ovarian neoplasm, Chronic diarrhea, Weight loss	ORPHA:2221
Pseudohypoaldosteronism Type 2	Nausea and vomiting, Hyperkalemia	ORPHA:757
Mccune-Albright Syndrome	Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,...	OMIM:174800
Classical Ehlers-Danlos Syndrome	Gastroesophageal reflux, Chronic constipation, Hiatus hernia, Nausea, Rectal prolapse, Vomiting	ORPHA:287
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:612925
Congenital Disorder Of Glycosylation, Type Iij	Feeding difficulties, Recurrent infection of the gastrointestinal tract, Failure to thrive, Hepat...	OMIM:613489
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea, Hyperhidrosis	ORPHA:29822
Erythermalgia, Primary	Constipation, Xerostomia, Diarrhea, Hyperhidrosis	OMIM:133020
Pituitary Adenoma 4, Acth-Secreting	Increased circulating ACTH level, Hypokalemia, Pituitary adenoma, Abdominal obesity, Obesity	OMIM:219090
Botulism	Xerostomia, Abdominal pain, Dysphagia, Constipation, Diarrhea, Nausea and vomiting	ORPHA:1267
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Weight loss	ORPHA:33276
Intestinal Botulism	Dysphagia, Nausea and vomiting, Xerostomia, Diarrhea	ORPHA:178481
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Colon cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyp...	ORPHA:480536
Intellectual Developmental Disorder, Autosomal Dominant 51	Cryptorchidism, Chronic constipation, Feeding difficulties, Failure to thrive, Poor suck, Chronic...	OMIM:617788
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating alpha-fetoprotein concentration, Hypokalemia, Elevated circulating creatinin...	OMIM:613095
Proximal Renal Tubular Acidosis	Malabsorption, Bicarbonaturia, Hypokalemia, Failure to thrive, Diarrhea, Vomiting	ORPHA:47159
Yao Syndrome	Xerostomia, Diarrhea, Abdominal pain, Weight loss	OMIM:617321
Immunodeficiency 97 With Autoinflammation	Colitis, Abdominal pain, Hypertriglyceridemia, Diarrhea, Enterocolitis, Increased circulating fer...	OMIM:619802
Immunodeficiency 14B, Autosomal Recessive	Colitis, Inflammation of the large intestine, Chronic diarrhea	OMIM:619281
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Nausea, Elevated circulating creatine kinase concentration, Hypergonadotropic h...	OMIM:615084
Sepsis In Premature Infants	Small for gestational age, Abdominal distention, Functional abnormality of the gastrointestinal t...	ORPHA:90051
Inflammatory Skin And Bowel Disease, Neonatal, 2	Vomiting, Secretory diarrhea, Failure to thrive	OMIM:616069
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Foodborne Botulism	Xerostomia, Abdominal pain, Dysphagia, Constipation, Diarrhea, Nausea and vomiting	ORPHA:228371
Generalized Glucocorticoid Resistance Syndrome	Adrenal hyperplasia, Increased circulating ACTH level, Increased circulating cortisol level, Decr...	ORPHA:786
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Congenital pyloric atresia, Esophageal atresia, Intractable diarrhea, Elevated maternal serum alp...	OMIM:226730
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular carcinoma, Hepatocellular adenoma, Polycystic ovaries, Elevated circulating creati...	ORPHA:79240
Microvillus Inclusion Disease	Villous atrophy, Diarrhea, Abnormality of small intestinal villus morphology, Abdominal distention	ORPHA:2290
Relapsing Fever	Abdominal pain, Increased total bilirubin, Diarrhea, Elevated circulating C-reactive protein conc...	ORPHA:91547
American Trypanosomiasis	Achalasia, Abdominal pain, Aganglionic megacolon, Diarrhea, Abnormal large intestine physiology	ORPHA:3386
Typhoid	Constipation, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain	ORPHA:99745
Porphyria, Acute Intermittent	Hepatocellular carcinoma, Abdominal pain, Constipation, Nausea, Diarrhea, Vomiting, Paralytic ileus	OMIM:176000
Dominant Beta-Thalassemia	Hepatocellular carcinoma, Delayed puberty, Hypopituitarism, Feeding difficulties, Diabetes mellit...	ORPHA:231226
Rabson-Mendenhall Syndrome	Macroglossia, Increased serum testosterone level, High palate, Increased pineal volume, Fasting h...	ORPHA:769
Hereditary Folate Malabsorption	Glossitis, Gastroesophageal reflux, Anorexia, Failure to thrive, Diarrhea, Nausea and vomiting	ORPHA:90045
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, High palate, Diarrhea, Decreased testicular size	OMIM:300215
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Anorexia, Diarrhea	ORPHA:49827
Immunodeficiency 85 And Autoimmunity	Tube feeding, Failure to thrive in infancy, Villous atrophy, Vomiting, Chronic diarrhea	OMIM:619510
Ebola Hemorrhagic Fever	Poor appetite, Abdominal pain, Dysphagia, Acute pancreatitis, Melena, Gastrointestinal hemorrhage...	ORPHA:319218
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Failure to thrive in infancy, Abdominal pain, Diarrhea, Elevated circulating C-reactive protein c...	OMIM:617099
Developmental And Epileptic Encephalopathy 50	Dysphagia, Diarrhea, Hyperammonemia, Failure to thrive	OMIM:616457
Adiposis Dolorosa	Xerostomia, Constipation, Diarrhea, Hypothyroidism, Obesity	ORPHA:36397
Immunodeficiency 15B	Chronic diarrhea, Failure to thrive	OMIM:615592
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Congenital Disorder Of Glycosylation, Type Iil	Hypohidrosis, Inflammation of the large intestine, Esophageal varix, Elevated circulating creatin...	OMIM:614576
Graft Versus Host Disease	Gastrointestinal inflammation, Stomatitis, Recurrent gastroenteritis, Abdominal pain, Failure to ...	ORPHA:39812
Dpm1-Cdg	Elevated circulating creatine kinase concentration, Failure to thrive, Gastrostomy tube feeding i...	ORPHA:79322
Erythroderma Desquamativum	Diarrhea, Failure to thrive	ORPHA:314
Immunodeficiency 46	Chronic diarrhea, Failure to thrive	OMIM:616740
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Hypokalemia	OMIM:134600
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Abdominal distention, Conjugated hyperbilirubinemia, Hyperkalemia, Increased total bilirubin, Ful...	OMIM:618528
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Diarrhea, Crohn's disease	OMIM:616100
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Hyperammonemia, Orchitis, Pancreatitis, Anorexia, Odyn...	ORPHA:99826
Coffin-Lowry Syndrome	Rectal prolapse, Narrow palate, Decreased body weight, High palate	OMIM:303600
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated calcitonin, Neoplasm of the liver, Elevated circulating para...	ORPHA:653
Hyperimmunoglobulinemia D With Periodic Fever	Peritonitis, Recurrent aphthous stomatitis, Intestinal obstruction, Abdominal pain, Gastrointesti...	ORPHA:343
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:154275
Thrombotic Thrombocytopenic Purpura, Hereditary	Increased blood urea nitrogen, Elevated circulating creatinine concentration	OMIM:274150
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Increased circulating cortisol level, Truncal obesity, Primary hypercortisolism, De...	OMIM:610475
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Feeding difficulties	OMIM:615119
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Small for gestational age, Thyroid hyperplasia, Hyperthyroidism, Diarrhea, Activating thy...	ORPHA:424
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Diarrhea, Failure to thrive	ORPHA:277
Classic Galactosemia	Delayed puberty, Cryptorchidism, Feeding difficulties, Diarrhea, Hepatic failure, Vomiting, Decre...	ORPHA:79239
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Anal atresia, Abdominal distention, Cleft palate, Intestinal malrotation, Rectovaginal fistula, S...	OMIM:270420
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Diarrhea, Weight loss, Failure to thrive	ORPHA:1842
Car T Cell Therapy-Associated Cytokine Release Syndrome	Poor appetite, Hyperbilirubinemia, Diarrhea, Nausea, Vomiting, Elevated circulating creatinine co...	ORPHA:542323
Osteopetrosis, Autosomal Recessive 9	Hyperparathyroidism, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Juvenile Polyposis Syndrome	Intestinal polyp, Protein-losing enteropathy, Abdominal pain, Intussusception, Small intestinal p...	ORPHA:2929
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Elevated calcitonin, Hyperparathyroidism, Increased circulating corti...	OMIM:171400
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Ileal Neuroendocrine Tumor	Intermittent diarrhea, Abnormal bowel sounds, Small intestine carcinoid, Episodic abdominal pain,...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Intermittent diarrhea, Abnormal bowel sounds, Small intestine carcinoid, Episodic abdominal pain,...	ORPHA:100077
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Decreased circulating ACTH level, Macronodular adrenal hype...	OMIM:615954
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Elevated circulating creatine kinase concentration, Hyperkalemia	OMIM:154276
Distal Renal Tubular Acidosis	Poor appetite, Hypokalemia, Failure to thrive, Constipation, Diarrhea, Vomiting	ORPHA:18
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent infection of the gastrointestinal tract, Decreased circulating beta-2-microglobulin lev...	ORPHA:572
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Villous atrophy, Hypergonadotropic hypogonadism, Failure to thrive, Diarrhea, Hypoth...	OMIM:212065
Mastocytosis	Anorexia, Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Hypercalcemia	ORPHA:98292
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Diarrhea, Vomiting, Failure to thrive	OMIM:610768
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Chronic diarrhea, Failure to thrive	OMIM:615285
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Diarrhea, Hypoplasia of the thymus, Increased circulating ferritin concentr...	OMIM:619313
Pediatric-Onset Graves Disease	Graves disease, Goiter, Puberty and gonadal disorders, Increased circulating free T3, Increased c...	ORPHA:525731
Beta-Thalassemia Major	Hepatocellular carcinoma, Delayed puberty, Hypopituitarism, Feeding difficulties, Diabetes mellit...	ORPHA:231214
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Abnormality of the gastrointestinal tract, Feeding difficulties...	ORPHA:2176
Bare Lymphocyte Syndrome, Type Ii	Malabsorption, Villous atrophy, Colitis, Protracted diarrhea, Failure to thrive	OMIM:209920
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Ileus, Villous atrophy, Failure to thrive, Hypothyroidism, Type I diabetes mellitus, Chronic diar...	OMIM:304790
Inhalational Botulism	Constipation, Nausea and vomiting, Xerostomia, Diarrhea	ORPHA:254504
Familial Mediterranean Fever	Peritonitis, Orchitis, Chronic constipation, Elevated circulating amyloid A, Abdominal pain, Diar...	OMIM:249100
Severe Combined Immunodeficiency, X-Linked	Hypoplasia of the thymus, Chronic diarrhea, Failure to thrive	OMIM:300400
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Vomiting, Diarrhea, Type I diabetes mellitus, Failure to thrive	OMIM:560000
Obsolete: Primary Pigmented Nodular Adrenocortical Disease	Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Abdominal obesity, ...	ORPHA:189439
Pearson Marrow-Pancreas Syndrome	Small for gestational age, Malabsorption, Steatorrhea, Anorexia, Villous atrophy, Failure to thri...	OMIM:557000
Beta-Ketothiolase Deficiency	Hyperammonemia, Hyperuricemia, Anorexia, Diarrhea, Vomiting, Weight loss	ORPHA:134
Lysinuric Protein Intolerance	Hyperalaninemia, Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Elev...	ORPHA:470
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular carcinoma, Delayed puberty, Protuberant abdomen, Inflammation of the large intesti...	ORPHA:79259
Leukocyte Adhesion Deficiency, Type I	Rectal abscess, Elevated circulating C-reactive protein concentration, Chronic diarrhea	OMIM:116920
Pigmented Nodular Adrenocortical Disease, Primary, 1	Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I...	OMIM:610489
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Colitis, Ulcerative colitis, Crohn's disease	OMIM:618394
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	High palate, Hyperammonemia, Decreased plasma free carnitine, Feeding difficulties in infancy, El...	OMIM:608836
Pigmented Nodular Adrenocortical Disease, Primary, 4	Adrenal hyperplasia, Diabetes mellitus, Increased circulating cortisol level, Primary hypercortis...	OMIM:615830
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Carney Triad	Adrenocortical adenoma, Pheochromocytoma, Anorexia, Abdominal pain, Gastrointestinal stroma tumor...	ORPHA:139411
Cutaneous Mastocytoma	Diarrhea, Nausea, Vomiting, Abdominal pain	ORPHA:79455
Microgastria-Limb Reduction Defect Syndrome	Esophageal atresia, Anal atresia, Gastroesophageal reflux, Intestinal malrotation, Rectal atresia...	ORPHA:2538
Meconium Ileus	Chronic diarrhea, Meconium ileus, Microcolon	OMIM:614665
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	High palate, Diarrhea	OMIM:614069
Acth-Independent Macronodular Adrenal Hyperplasia

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