Gene Summary

Name:
RAB8A, member RAS oncogene family
Synonyms:
Mel

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased grip strength Rab8aem1(IMPC)J HET Early adult 1.34×10-07
decreased lean body mass Rab8aem1(IMPC)J HET Early adult 3.26×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Rab8a 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 Rab8a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Decreased ... ORPHA:103907
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Abdominal colic, Diarrhea, Protein-losing enteropathy, Vomiting, Failure to thrive OMIM:615863
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea OMIM:251850
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Trehalase Deficiency
Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:613291
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Malabsorption, Abdominal pain, Abdominal distention, Gas... OMIM:613662
Sucrase-Isomaltase Deficiency, Congenital
Abdominal pain, Diarrhea, Nephrolithiasis, Malabsorption OMIM:222900
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, ... OMIM:606528
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Weight loss, Decreased intestinal transit ti... OMIM:620045
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea... OMIM:246700
5-Oxoprolinase Deficiency
Calcium oxalate nephrolithiasis, Abdominal pain, Diarrhea, Enterocolitis, Increased level of L-py... OMIM:260005
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Weight loss, Feeding difficulties, Aminoaciduria, Proximal tubulopathy, Vomit... OMIM:612075
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Bloody diarrhea, Hematochezia, Chronic constipatio... ORPHA:209964
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Abdominal distention, Diarrhea, Vomiting ORPHA:35122
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Abdominal distention, Feeding dif... ORPHA:1201
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... ORPHA:2290
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Secretory Component Deficiency
Intermittent diarrhea OMIM:269650
Cronkhite-Canada Syndrome
Intestinal polyposis, Cachexia, Malabsorption, Anorexia, Abdominal pain, Diarrhea, Furrowed tongu... ORPHA:2930
Idiopathic Achalasia
Weight loss, Gastroesophageal reflux, Malnutrition, Dysphagia ORPHA:930
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno... ORPHA:2494
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea OMIM:614328
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... OMIM:614602
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Wolman Disease
Nausea and vomiting, Cachexia, Abdominal distention, Malnutrition, Esophageal varix, Steatorrhea,... ORPHA:75233
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Malabsorption, Intes... OMIM:603041
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Diarrhea, Hepatic failure, Renal cyst, Proximal tubulopathy, Protein-losing ente... OMIM:602579
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Poor appetite,... ORPHA:298
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria OMIM:614265
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Weight loss ORPHA:52416
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Glycosuria, Fail... OMIM:606824
Coproporphyria, Hereditary
Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Abdo... OMIM:121300
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Weight loss, Inflammation of the lar... ORPHA:26790
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Malabsorption, Abdominal pain, Diarrhea, Steatorrhea, ... ORPHA:2070
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Vomiting OMIM:605911
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Microglossi... ORPHA:141152
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Feeding difficulties in infancy, Secretory diarrhea, Enterocolitis, Failure to t... OMIM:616050
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Spinocerebellar Ataxia 48
Urinary incontinence, Cachexia, Dysphagia OMIM:618093
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Cachexia, Testicular neoplasm, Abdominal pain, Abdominal distention, Ileus, ... ORPHA:83469
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Diencephalic Syndrome
Long penis, Cachexia, Decreased body weight ORPHA:1672
Immunodeficiency 104
Diarrhea, Gastroesophageal reflux, Failure to thrive secondary to recurrent infections OMIM:608971
Refractory Celiac Disease
Villous atrophy, Malabsorption, Abdominal pain, Chronic diarrhea, Malnutrition, Weight loss, Prot... ORPHA:398063
Jejunal Atresia
Jejunal atresia OMIM:243600
Mulibrey Nanism
Cachexia ORPHA:2576
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Vomiting, Tube feeding OMIM:619510
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Failure to thrive, Malabsorption OMIM:229050
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Steatorrhea OMIM:607748
Reticular Dysgenesis
Failure to thrive, Diarrhea, Weight loss, Malabsorption ORPHA:33355
Enteric Anendocrinosis
Diarrhea, Vomiting, Malabsorption ORPHA:83620
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... OMIM:619377
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Pancreatic Colipase Deficiency
Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea, Steatorrhea ORPHA:309108
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Crohn's disease, Mucoid diarrhea OMIM:615767
Brunner Syndrome
Diarrhea OMIM:300615
Laryngotracheoesophageal Cleft Type 4
Tracheoesophageal fistula, Cachexia, Intestinal atresia ORPHA:93941
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation, Nephropathy, Abnormal renal physiology ORPHA:85447
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive, Nocturia ORPHA:178029
Diarrhea 13
Failure to thrive, Secretory diarrhea, Vomiting OMIM:620357
Moynahan Syndrome
Cachexia ORPHA:2574
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Abdominal pain, Malabsorption ORPHA:100025
Glucose-Galactose Malabsorption
Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph... ORPHA:35710
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Malabsorption, Protracted diarrhea, Colitis, Failure to thrive OMIM:209920
X-Linked Creatine Transporter Deficiency
Constipation, Ileus, Aganglionic megacolon, Cachexia ORPHA:52503
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Obesity, Feeding difficulties OMIM:620270
Enterokinase Deficiency
Diarrhea, Failure to thrive OMIM:226200
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden... ORPHA:79076
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Cachexia, Diarrhea, Vomiting, Decr... ORPHA:42
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Immunodeficiency 48
Diarrhea, Failure to thrive OMIM:269840
Pulmonary Blastoma
Weight loss ORPHA:64741
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Failure to thrive OMIM:304790
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Renpenning Syndrome
Hypospadias, Cachexia, High, narrow palate, Cleft palate, Decreased testicular size, Anal atresia ORPHA:3242
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Protein-losing enteropathy, Lacticaciduria OMIM:619063
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Sandhoff Disease, Juvenile Form
Urinary incontinence, Diarrhea, Constipation, Dysphagia, Failure to thrive ORPHA:309162
Laryngeal Neuroendocrine Tumor
Weight loss, Anorexia, Oral-pharyngeal dysphagia ORPHA:100083
Cholestasis, Progressive Familial Intrahepatic, 2
Fat malabsorption, Failure to thrive, Diarrhea, Hepatocellular carcinoma OMIM:601847
Cholesteryl Ester Storage Disease
Nausea and vomiting, Diarrhea, Hepatic failure, Esophageal varix ORPHA:75234
Pfapa Syndrome
Nausea and vomiting, Abdominal pain, Weight loss, Malabsorption ORPHA:42642
Erythroderma Desquamativum
Diarrhea, Failure to thrive ORPHA:314
Galactose Epimerase Deficiency
Nausea and vomiting, Aminoaciduria, Feeding difficulties, Weight loss ORPHA:79238
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Weight loss, Acholic stools, Hep... ORPHA:65682
Tuberculosis
Weight loss ORPHA:3389
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, Diarrhea, Inflammation of the large intestine, Failure to thrive OMIM:618108
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Chronic diarrhea, Nephrotic syndr... ORPHA:79327
Glutaric Aciduria Iii
Glutaric aciduria, Diarrhea, Failure to thrive, Vomiting OMIM:231690
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Failure to thrive, Hepatic failure, Steatorrhea OMIM:235555
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Bile Acid Synthesis Defect, Congenital, 1
Diarrhea, Hepatic failure, Acholic stools, Steatorrhea, Fat malabsorption, Failure to thrive OMIM:607765
Chylomicron Retention Disease
Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:71
Lysosomal Acid Lipase Deficiency
Nausea and vomiting, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Abdominal pain... ORPHA:275761
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Vomi... OMIM:143880
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Aa Amyloidosis
Proteinuria, Malabsorption, Abdominal pain, Chronic diarrhea, Chronic kidney disease, Malnutritio... ORPHA:85445
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Malnutrition, Gastroesophageal reflux, Feeding difficulties OMIM:619971
Undifferentiated Pleomorphic Sarcoma
Anorexia, Weight loss ORPHA:2023
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Bloody diarrhea, Hematochezia, Pro... ORPHA:100082
Hereditary Amyloidosis With Primary Renal Involvement
Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa... ORPHA:85450
Porphyria, Acute Intermittent
Urinary incontinence, Dysuria, Abdominal pain, Diarrhea, Paralytic ileus, Constipation, Vomiting,... OMIM:176000
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Malonyl-Coa Decarboxylase Deficiency
Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated urine suberic ac... OMIM:248360
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia, High palate, Narrow palate OMIM:618186
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Majeed Syndrome
Proteinuria, Microscopic hematuria, Cachexia, Malabsorption, Weight loss, Failure to thrive ORPHA:77297
Silver-Russell Syndrome
Hypospadias, Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Feeding difficultie... ORPHA:813
Immunodeficiency 19
Failure to thrive, Chronic diarrhea OMIM:615617
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... OMIM:256500
Whipple Disease
Gastrointestinal hemorrhage, Anorexia, Cachexia, Malabsorption, Abdominal pain, Diarrhea ORPHA:3452
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Ileus, Secretory diarrhea, Tubu... ORPHA:37042
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Failure to thrive OMIM:613501
Cog7-Cdg
Diarrhea, Failure to thrive, Small for gestational age, Feeding difficulties ORPHA:79333
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Small for gestational age, Anorexia, Malabsorption, Hepatic failure, Chronic dia... OMIM:557000
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Abdominal pain, Gastrointestinal dysmotility, Diarrhea, Protracted diarrh... ORPHA:67
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Vomiting, Failure to thrive OMIM:264350
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Failure to thrive, Diarrhea OMIM:211600
Congenital Disorder Of Glycosylation, Type Ih
Cryptorchidism, Diarrhea, Abdominal distention, Protein-losing enteropathy, Vomiting, Decreased l... OMIM:608104
Yao Syndrome
Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis, Weight loss OMIM:617321
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Weight loss, Melena, Protracted di... ORPHA:100080
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic aciduria, Methylmalonic aciduria, Vomiting, Intermittent diarrhea, Failure to thrive... ORPHA:289504
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections OMIM:601457
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Malabsorption, Abdomi... ORPHA:131
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Immunodeficiency 31C
Villous atrophy, Diarrhea, Weight loss, Gastrointestinal eosinophilia, Protein-losing enteropathy... OMIM:614162
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Obesity, Enuresis, Constipation, Gastroesophageal reflux, D... ORPHA:589821
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia, Aminoaciduria, Methylmalonic aciduria ORPHA:1933
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Immunodeficiency 11B With Atopic Dermatitis
Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis OMIM:617638
Isolated Agammaglobulinemia
Diarrhea, Failure to thrive, Malabsorption ORPHA:229717
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Macroglossia, Glossitis ORPHA:2221
Alg6-Cdg
Macroglossia, Failure to thrive, Protein-losing enteropathy, Feeding difficulties ORPHA:79320
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chronic diarrhea,... OMIM:619858
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Chronic diarrhea, Enlarged kidney OMIM:615285
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Gastroesophageal reflux, Vom... ORPHA:206436
Immunodeficiency 69
Diarrhea, Failure to thrive OMIM:618963
Rapadilino Syndrome
High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... ORPHA:1267
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Cachexia ORPHA:2774
Porphyria Due To Ala Dehydratase Deficiency
Purple urine, Increased fecal coproporphyrin 3, Abdominal pain, Abdominal distention, Diarrhea, I... ORPHA:100924
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Inflammation of the large intestine, Colit... OMIM:614700
Dracunculiasis
Nausea and vomiting, Diarrhea ORPHA:231
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Proteinuria, Feeding difficulties in infancy, Diarrhea, Renal cyst, Nephrotic sy... OMIM:212065
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Vomiting, Abdominal pain OMIM:620137
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Immunodeficiency 76
Chronic diarrhea, Colitis OMIM:619164
Familial Pancreatic Carcinoma
Nausea and vomiting, Intestinal pseudo-obstruction, Functional intestinal obstruction, Anorexia, ... ORPHA:1333
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Poor appetite, Diarrhea, Nephrolithiasis, Dysphagia, Nausea ORPHA:352447
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Secretory diarrhea, Vomiting OMIM:616069
Galactosemia I
Diarrhea, Albuminuria, Aminoaciduria, Vomiting, Galactosuria, Increased level of galactitol in ur... OMIM:230400
Methionine Malabsorption Syndrome
Diarrhea, Aminoaciduria OMIM:250900
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Abnormal intestine morphology, V... OMIM:226300
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph... ORPHA:228371
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Urinary incontinence, Cachexia, Dysphagia ORPHA:300605
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Anorexia, Poor appetite, Hematemesis, Bowel urgency, Lack of bowel sounds, B... ORPHA:100075
19Q13.11 Microdeletion Syndrome
Hypospadias, Cachexia, Cryptorchidism, Feeding difficulties, Failure to thrive ORPHA:217346
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea OMIM:615592
Pancreatoblastoma
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Vomiting ORPHA:677
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy OMIM:606367
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomiting, Failure to ... ORPHA:927
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis OMIM:613960
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Protein-losing enteropathy, Feeding difficulties OMIM:618154
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Weight loss, Neoplasm of the liver, Vomiting, Nausea ORPHA:90003
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarr... ORPHA:330001
Medullary Thyroid Carcinoma
Diarrhea, Weight loss, Dysphagia ORPHA:1332
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Diarrhea, Weight loss ORPHA:33276
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Immunodeficiency 46
Failure to thrive, Chronic diarrhea OMIM:616740
Rhabdoid Tumor
Nausea and vomiting, Poor appetite, Abdominal pain, Weight loss, Hematuria, Neoplasm of the liver ORPHA:69077
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Weight loss, Abdo... ORPHA:98850
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Blue Diaper Syndrome
Nephrocalcinosis, Blue urine, Diarrhea, Increased body weight ORPHA:94086
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney... ORPHA:1018
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Failure to thrive, Vomiting, Feeding difficulties OMIM:177735
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal... OMIM:270420
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Hematuria, Acute kidney injury ORPHA:54057
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation ORPHA:254504
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Diarrhea, Macroglossia, Failure to thrive OMIM:242860
Hereditary Folate Malabsorption
Nausea and vomiting, Anorexia, Diarrhea, Gastroesophageal reflux, Failure to thrive, Glossitis ORPHA:90045
Aredyld Syndrome
Abnormality of the ureter, Cachexia ORPHA:1133
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Feeding difficulties, Hepatic failure, Failure to thrive, Recurrent infection o... OMIM:613489
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Nasogastric tube feeding ORPHA:163961
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Bile Acid Synthesis Defect, Congenital, 3
Diarrhea, Hepatic failure, Hematochezia, Acholic stools, Steatorrhea, Failure to thrive OMIM:613812
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Weight loss, Chronic constipation,... OMIM:301074
Syndromic Diarrhea
Villous atrophy, Gastritis, Small for gestational age, Renal hypoplasia, Bloody diarrhea, Colitis... ORPHA:84064
Autosomal Agammaglobulinemia
Diarrhea, Failure to thrive, High palate, Malabsorption ORPHA:33110
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Gastroesophageal reflux, High palate, Decreased body weight, Nasogastric tube feeding OMIM:607906
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome ORPHA:2575
Celiac Disease, Susceptibility To, 1
Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Weight loss, Vomiting, Recurrent ... OMIM:212750
Congenital Toxoplasmosis
Diarrhea, Failure to thrive in infancy ORPHA:858
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Micropenis, Decreased testicular size OMIM:300215
Huntington Disease-Like 2
Weight loss ORPHA:98934
Microsporidiosis
Cachexia, Anorexia, Abdominal pain, Nephritis, Peritonitis, Chronic diarrhea, Urethritis, Weight ... ORPHA:2552
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive, Ethylmalonic aciduria ORPHA:51188
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Weight loss,... ORPHA:100078
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit... OMIM:619381
Hyperprolinemia Type 2
Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abdominal pain, Diarrhea,... ORPHA:79101
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ... OMIM:256700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Anorexia, Weight loss ORPHA:86893
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Pleural Mesothelioma
Weight loss, Dysphagia ORPHA:50251
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Nephroblastoma
Hematuria, Neoplasm of the liver, Abdominal pain, Weight loss ORPHA:654
Erythermalgia, Primary
Diarrhea, Xerostomia, Constipation OMIM:133020
Ppoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97278
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Fat malabsorption, Failure to thrive, Hepatic failure OMIM:214950
Immunodeficiency 27A
Diarrhea, Anorexia, Weight loss OMIM:209950
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain ORPHA:99745
Shigellosis
Failure to thrive in infancy, Anorexia, Abdominal pain, Intestinal perforation, Hemolytic-uremic ... ORPHA:810
Fatal Familial Insomnia
Urinary retention, Weight loss, Constipation, Dysphagia OMIM:600072
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peri... ORPHA:90038
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea, Failure to thrive, Weight loss ORPHA:1842
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain OMIM:615399
Complement Component 4B Deficiency
Chronic diarrhea OMIM:614379
Primary Myelofibrosis
Cachexia, Anorexia ORPHA:824
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Colitis, Steatorrhea, Exocrine pancr... ORPHA:309031
X-Linked Intellectual Disability, Cabezas Type
Hypoplasia of penis, Cachexia, Obesity, High palate, Decreased testicular size ORPHA:85293
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Feeding difficulties, Bloody diarrhea OMIM:615119
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abdominal pain, Diarrhea, Abnormal testis morphology, Weight loss ORPHA:54251
Trichohepatoenteric Syndrome 1
Villous atrophy, Hypospadias, Small for gestational age, Galactosuria, Hepatic failure, Intractab... OMIM:222470
Alg8-Cdg
Abnormality of the gastrointestinal tract, Small for gestational age, Diarrhea, Feeding difficult... ORPHA:79325
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Diarrhea, Failure to thrive ORPHA:277
Cholesteryl Ester Storage Disease
Acute hepatic failure, Diarrhea, Hepatic failure, Esophageal varix, Vomiting, Protuberant abdomen... OMIM:278000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Polyuria, Diarrhea, Proximal tubulopathy, Vomiting, Failure to thrive OMIM:560000
Immunodeficiency 14B, Autosomal Recessive
Chronic diarrhea, Inflammation of the large intestine, Colitis OMIM:619281
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Peritonitis, Diarrhea, Recur... ORPHA:343
Isaacs Syndrome
Weight loss ORPHA:84142
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long penis OMIM:190440
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea ORPHA:29822
Familial Glucocorticoid Deficiency
Anorexia, Renal salt wasting, Cryptorchidism, Diarrhea, Testicular adrenal rest tumor, Weight los... ORPHA:361
Liposarcoma
Nausea and vomiting, Abdominal pain, Weight loss ORPHA:69078
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, Vomiting, Dysphagia... ORPHA:319218
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Renal insufficien... ORPHA:90291
Encephalopathy, Ethylmalonic
Failure to thrive, Chronic diarrhea, Ethylmalonic aciduria, Feeding difficulties OMIM:602473
Nijmegen Breakage Syndrome
Anal stenosis, Cachexia, Anorectal anomaly, Chronic diarrhea, Cleft palate, Pollakisuria, Anal at... ORPHA:647
Angioedema, Hereditary, 1
Diarrhea, Vomiting, Intestinal edema, Abdominal pain OMIM:106100
Cog4-Cdg
Fatal liver failure in infancy, Failure to thrive in infancy, Feeding difficulties, Intermittent ... ORPHA:263501
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Cachexia, Abnormal large intestine morphology, Narrow palate, Hamartomatous... ORPHA:109
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive OMIM:618495
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea OMIM:619446
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Hepatic failure, Small for gestational age, Abdominal pain ORPHA:567983
Cutaneous Mastocytoma
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79455
X-Linked Agammaglobulinemia
Malabsorption, Chronic diarrhea, Weight loss, Glossoptosis, Failure to thrive ORPHA:47
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss ORPHA:411703
Acrodermatitis Enteropathica
Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Furrowed tongue, Weight loss, Failure t... ORPHA:37
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption OMIM:602347
Adiposis Dolorosa
Constipation, Xerostomia, Obesity, Diarrhea ORPHA:36397
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... ORPHA:913
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia ORPHA:3386
Somatostatinoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97283
Immunodeficiency 17
Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis, ... OMIM:615607
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Abdominal ... ORPHA:144
Carnitine Deficiency, Systemic Primary
Failure to thrive, Diarrhea, Dicarboxylic aciduria, Vomiting OMIM:212140
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Bloody diarr... OMIM:175200
Mednik Syndrome
Volvulus, Jejunal atresia, Microcolon, Diarrhea OMIM:609313
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease OMIM:616100
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Acute kidney injury ORPHA:449285
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Secret... OMIM:619573
Grfoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97261
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... OMIM:601346
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Caspase 8 Deficiency
Failure to thrive, Chronic diarrhea OMIM:607271
Trisomy 18
Cachexia, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Hydronephrosis, Anal a... ORPHA:3380
Systemic Capillary Leak Syndrome
Renal insufficiency, Abdominal pain, Diarrhea, Oliguria, Weight loss ORPHA:188
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Failure to thrive in infancy, High, narrow palate, Di... OMIM:162300
Cog8-Cdg
Failure to thrive, Protein-losing enteropathy ORPHA:95428
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Abdominal pain, Intestinal ... ORPHA:679
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Diarrhea, Failure to thrive secondary to recurrent infections, Protracted diarrhea ORPHA:169160
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Diarrhea, Esophageal carcinoma, Functional abnormality of the bladder, Enterocol... ORPHA:391487
Immunodeficiency 56
Failure to thrive, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic f... OMIM:615207
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting ORPHA:391673
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diarrhea, Anorexia ORPHA:49827
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Anorexia, Abdominal pain, Celiac disease, Diarrhea, Weight loss, Constipatio... ORPHA:199299
Immunodeficiency 60 And Autoimmunity
Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis OMIM:618394
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Hepatocellular carcinoma, Abdomi... ORPHA:440437
Igg4-Related Aortitis
Abdominal pain, Intestinal obstruction, Hydronephrosis, Weight loss ORPHA:449400
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, High palate OMIM:614069
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting ORPHA:79456
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Hepatic failure, Renal cyst, Steatorrhea, Fat malabsorption, Failure to thrive ORPHA:79303
Sepsis In Premature Infants
Small for gestational age, Abdominal distention, Diarrhea, Gastrointestinal dysmotility, Enteroco... ORPHA:90051
Acute Intermittent Porphyria
Dark urine, Nausea and vomiting, Renal insufficiency, Urinary incontinence, Dysuria, Abdominal pa... ORPHA:79276
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Malabsorption, O... ORPHA:342
Glucagonoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite... ORPHA:97280
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Short hard palate, Cachexia, Anorexia ORPHA:1969
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Urethrovesical occlusion, Congenital pyloric atresia OMIM:226730
Non-Functioning Paraganglioma
Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated urinary epinephr... ORPHA:94080
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Chronic diarrhea OMIM:300400
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting OMIM:142680
Immunodeficiency 40
Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula OMIM:616433
Immunodeficiency 7
Diarrhea, Failure to thrive OMIM:615387
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Cold Agglutinin Disease
Nausea and vomiting, Abnormal urinary color, Diarrhea ORPHA:56425
Classic Galactosemia
Cryptorchidism, Diarrhea, Feeding difficulties, Vomiting, Hepatic failure ORPHA:79239
Trichothiodystrophy 3, Photosensitive
Meckel diverticulum, Bilateral cryptorchidism, Pyloric stenosis, Feeding difficulties, Failure to... OMIM:616395
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... ORPHA:36426
Dengue Fever
Gastrointestinal hemorrhage, Diarrhea, Nausea and vomiting, Abdominal pain ORPHA:99828
Cholestasis, Progressive Familial Intrahepatic, 6
Failure to thrive, Chronic diarrhea OMIM:619484
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea OMIM:612692
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Diarrhea, Malnutrition, Decreased body weight, Fat malabsorption ORPHA:96180
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Proteinuria, Large for gestational age, Diarrhea, Increased body weight, Renal Fanconi syndrome, ... ORPHA:263455
Xfe Progeroid Syndrome
Renal insufficiency, Failure to thrive, Proteinuria, Cachexia OMIM:610965
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Constipation, Gastroesophageal reflux, Vomiting, Glome... OMIM:223900
Familial Hypoaldosteronism
Nausea and vomiting, Decreased urinary potassium, Renal salt wasting, Diarrhea, Proximal renal tu... ORPHA:427
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Failure to thrive in infancy OMIM:618805
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Duodenal stenosis ORPHA:2547
Imerslund-Gräsbeck Syndrome
Proteinuria, Poor appetite, Weight loss, Constipation, Vomiting, Failure to thrive, Glossitis ORPHA:35858
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Esophageal varix, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis... ORPHA:264580
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Duodenal stenosis ORPHA:1759
Alg9-Cdg
Villous atrophy, Ureteral hypoplasia, Diarrhea, Hydronephrosis, Gastroesophageal reflux, Vomiting... ORPHA:79328
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria ORPHA:90035
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Oliguria, Dysphagia ORPHA:99824
Methanol Poisoning
Diarrhea, Vomiting, Abdominal pain ORPHA:31825
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Weight loss, Episodic abdominal pain, Neoplasm of the l... ORPHA:100085
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Abdominal pain, Weight loss ORPHA:767
Anaplastic Thyroid Carcinoma
Weight loss, Tracheoesophageal fistula, Dysphagia ORPHA:142
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Macroglossia, Chronic diarrhea OMIM:618523
Immunodeficiency, Common Variable, 2
Diarrhea OMIM:240500
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Small intestinal polyposis, Juvenile gastrointestinal polyposis, Juv... ORPHA:2929
Malakoplakia
Proteinuria, Dysuria, Abdominal pain, Orchitis, Urinary bladder inflammation, Diarrhea, Neoplasm ... ORPHA:556
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Failure to thrive, Inflammation of the large intestine, Chronic ... ORPHA:98813
Autosomal Dominant Epidermolytic Ichthyosis
Poor appetite, Weight loss ORPHA:312
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Inflammation of ... ORPHA:436159
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Shwachman-Diamond Syndrome 2
Diarrhea, High palate, Steatorrhea, Failure to thrive, Exocrine pancreatic insufficiency OMIM:617941
Hereditary Fructose Intolerance
Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Cons... ORPHA:469
Graft Versus Host Disease
Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroenteritis, Sto... ORPHA:39812
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Chronic diarrhea, Colitis, Failure to thrive in infancy OMIM:301220
Boutonneuse Fever
Renal insufficiency, Diarrhea, Nausea, Abdominal pain ORPHA:83313
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Abdomina... ORPHA:93552
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Abnormality of the ureter, Nephrolithiasis, Cleft pala... ORPHA:800
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Inflammation of the large intestin... OMIM:614576
Huntington Disease-Like 2
Weight loss OMIM:606438
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
B4Galt1-Cdg
Diarrhea, Small for gestational age ORPHA:79332
Gallbladder Neuroendocrine Tumor
Anorexia, Biliary tract neoplasm, Abdominal distention, Weight loss, Episodic abdominal pain, Nausea ORPHA:100086
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Episodic abdominal pain, Protracted diarrhea, Small in... ORPHA:100093
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Chronic diarrhea, Failure to thrive in infancy, Abdominal pain OMIM:617099
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-u... OMIM:619644
Dpm1-Cdg
High, narrow palate, Diarrhea, Failure to thrive, Gastrostomy tube feeding in infancy ORPHA:79322
Immunodeficiency 9
Stomatitis, Failure to thrive, Chronic diarrhea, Recurrent aphthous stomatitis OMIM:612782
Fabry Disease
Renal insufficiency, Proteinuria, Abdominal pain, Diarrhea, Tenesmus, Urinary mulberry cells, Vom... OMIM:301500
Metachromatic Leukodystrophy
Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladde... ORPHA:512
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Nausea and vomiting, Renal insufficiency, Abdominal pain, Peritoniti... ORPHA:727
Developmental And Epileptic Encephalopathy 50
Failure to thrive, Diarrhea, Renal tubular acidosis, Dysphagia, Oroticaciduria OMIM:616457
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He... ORPHA:99818
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Diarrhea, Recurrent aphthous stomatitis OMIM:150550
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci... ORPHA:47159
Klatskin Tumor
Cholangiocarcinoma, Abdominal pain, Weight loss ORPHA:99978
Erythrokeratodermia Variabilis
Abnormal testis morphology, Weight loss ORPHA:317
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Complement Component 5 Deficiency
Intractable diarrhea OMIM:609536
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing ... OMIM:618183
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Renal insufficiency, Intestinal o... ORPHA:160
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Diarrhea, Dicarboxylic aciduria, Feeding difficulties OMIM:255120
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, R... ORPHA:18
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Infection-Related Hemolytic Uremic Syndrome
Anuria, Nausea, Abdominal pain, Intestinal perforation, Diarrhea, Secretory diarrhea, Oliguria, B... ORPHA:544482
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Diarrhea, Hepatocellular adenoma, Increased body weight, Renal tubular acidosis, Vomiting, Hepato... ORPHA:79240
Oculoskeletodental Syndrome
Small for gestational age, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, P... OMIM:618440
Polymyositis
Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Weight loss, Constipation, Gastroesophagea... ORPHA:732
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom... ORPHA:486
Car T Cell Therapy-Associated Cytokine Release Syndrome
Nausea, Poor appetite, Diarrhea, Vomiting, Acute kidney injury, Decreased urine output ORPHA:542323
Serkal Syndrome
Abnormal penis morphology, Malrotation of small bowel, Hypospadias ORPHA:139466
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Familial Mediterranean Fever
Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Episodic abdomin... OMIM:249100
Hyperzincemia With Functional Zinc Depletion
Diarrhea OMIM:601979
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys... ORPHA:537
Immunodeficiency, Common Variable, 1
Diarrhea OMIM:607594
Specific Granule Deficiency 2
Intractable diarrhea, Failure to thrive OMIM:617475
Cystic Fibrosis
Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Steatorrhea, Failure to thrive,... OMIM:219700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Diarrhea, Failure to thrive, Recurrent infection of the gastrointestinal tract, Protracted diarrhea ORPHA:572
Classic Hodgkin Lymphoma
Poor appetite, Anorexia, Weight loss ORPHA:391
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Cryptorchidism, Abdominal distention, Cleft palate, High palate, Protein-losing enteropathy, Micr... OMIM:235255
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Renal insufficiency, Proteinuria, Malabsorption, Abd... ORPHA:183
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Chronic diarrhea OMIM:619824
Transcobalamin Ii Deficiency
Diarrhea, Failure to thrive, Vomiting, Methylmalonic aciduria OMIM:275350
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Esophageal stricture, Chronic diarrhea, Failure to thrive, Oral leukoplakia OMIM:613989
Cat Eye Syndrome
Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Horseshoe ki... OMIM:115470
Caroli Disease
Cholangiocarcinoma, Anorexia, Abdominal pain, Esophageal varix, Weight loss, Abdominal rigidity, ... ORPHA:53035
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Generalized Pseudohypoaldosteronism Type 1
Feeding difficulties in infancy, Vomiting, Failure to thrive in infancy, Weight loss ORPHA:171876
Pemphigus Vulgaris
Feeding difficulties in infancy, Weight loss ORPHA:704
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation, Urinary incontinence OMIM:608654
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties ORPHA:221098
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Relapsing Fever
Abdominal pain, Diarrhea, Hematuria, Vomiting, Acute kidney injury ORPHA:91547
Mucopolysaccharidosis, Type Iiic
Heparan sulfate excretion in urine, Diarrhea, Dysphagia OMIM:252930
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Cryptorchidism, Feeding difficulties in infancy, Chronic diarrhea, Chronic constipati... ORPHA:500055
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Diarrhea, Vomiting... ORPHA:71212
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Nephrocalcinosis, Atrophic gastritis, Diarrhea, Malabsorption OMIM:240300
Takayasu Arteritis
Gastrointestinal infarctions, Anorexia, Weight loss ORPHA:3287
Cholera
Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Vomiting, Abdominal cramp... ORPHA:173
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Decreased testicular size, Poor appetite OMIM:201100
Mirage Syndrome
Hypospadias, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Gastroesophageal reflux, Mic... OMIM:617053
Addison Disease
Nausea and vomiting, Primary testicular failure, Anorexia, Decreased urinary potassium, Celiac di... ORPHA:85138
Solitary Fibrous Tumor
Neoplasm of the liver, Urinary retention, Constipation, Weight loss ORPHA:2126
Citrullinemia Type Ii
Diarrhea, Enuresis, Vomiting, Hepatocellular carcinoma, Decreased body mass index ORPHA:247585
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic diarrhea, Nephrotic syndrome, Colitis, Stomatitis, Failure to thrive, Recurrent infection... ORPHA:911
Matthew-Wood Syndrome
Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Vesicoureteral reflux, Fai... ORPHA:2470
Beta-Ketothiolase Deficiency
Ketonuria, Anorexia, Diarrhea, Weight loss, Vomiting ORPHA:134
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Organic aciduria, Anorexia, Weight loss ORPHA:79242
Cockayne Syndrome
Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen... ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 57
Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea, Failure to thrive OMIM:618050
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Abdominal pain, Diarrhea, Weight loss, Nausea ORPHA:98849
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Failure to thrive, Vomiting OMIM:610768
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Poor appetite, Weight loss ORPHA:324964
Tarp Syndrome