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Gene: Gpa33 MGI:1891703

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Gene Summary

Name:
glycoprotein A33 transmembrane
Synonyms:
2010310L10Rik,  2210401D16Rik,  A33 antigen

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal uterus morphology Gpa33tm2b(KOMP)Wtsi HOM Early adult 0.00
anophthalmia Gpa33tm2b(KOMP)Wtsi HOM Early adult 0.00
increased grip strength Gpa33tm2b(KOMP)Wtsi HOM Early adult 4.29×10-05
polycystic kidney Gpa33tm2b(KOMP)Wtsi HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Dorso Ventral Orientation

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Gross Pathology and Tissue Collection

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Histopathology

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

3 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

3 Images

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Human diseases caused by Gpa33 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 Gpa33 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactose Intolerance, Adult Type
Diarrhea, Abdominal pain, Lactose intolerance, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Elevated fecal sodium, Secretory diarrhea, Inflammation of the large intestine OMIM:616868
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Ulcerative colitis OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Gastritis, Pancolitis, Abdominal pain, Chronic diarrhea, Bloody diarr... OMIM:619079
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Enterocolitis, Vomiting OMIM:260005
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Aganglionic megacolon, Vomiting, Enterocolitis, Constipation, Abnormal ente... OMIM:142623
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Recurrent aphthous stomatitis, Diarrhea, Crohn's disease, Abdominal pain,... OMIM:266600
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Pyoderma, Crohn's disease, Folliculitis, Enterocolitis, Hematochezia, Colitis OMIM:613148
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Malnutrition, Protracted diarrhea, Abnormal intestine morphology, Villous atrophy OMIM:251850
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Hematochezia, Inflammation of the large intestine OMIM:191390
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Reduced renal corticomedull... OMIM:617610
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia... OMIM:617805
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Inflammatory Bowel Disease 25, Autosomal Recessive
Perianal abscess, Rectovaginal fistula, Pancolitis, Folliculitis, Enterocolitis, Enterocutaneous ... OMIM:612567
Chronic Diarrhea Due To Glucoamylase Deficiency
Abdominal distention, Dyspepsia, Abnormal small intestinal mucosa morphology, Chronic diarrhea, A... ORPHA:103907
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Diarrhea 6
Crohn's disease, Abdominal pain, Chronic diarrhea, Meteorism OMIM:614616
Homozygous 11P15-P14 Deletion Syndrome
Diarrhea, Abnormal intestine morphology, Feeding difficulties in infancy, Vomiting OMIM:606528
Visceral Myopathy 2
Intestinal obstruction, Rectal prolapse, Gastroparesis, Gastroesophageal reflux, Intestinal pseud... OMIM:619350
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Steatorrhea, Fat malabsorption, Increased fecal bile acid OMIM:613291
Epidermolysis Bullosa Acquisita
Abdominal pain, Inflammation of the large intestine ORPHA:46487
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Intractable diarrhea, Crypt hyperplasia, Villous atrophy OMIM:613217
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy OMIM:615863
Polycystic Kidney Disease 7
Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic... OMIM:620056
Solitary Rectal Ulcer Syndrome
Intermittent diarrhea, Rectal prolapse, Anal fissure, Abdominal pain, Bloody diarrhea, Episodic a... ORPHA:209964
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Chronic diarrhea, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Ulcerative ... OMIM:617638
Pseudomyxoma Peritonei
Intestinal obstruction, Abdominal pain, Constipation, Inflammation of the large intestine, Nausea... ORPHA:26790
Renal Dysplasia, Cystic, Susceptibility To
Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal... OMIM:601331
Immunodeficiency 76
Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:619164
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Monocytosis, Chronic diarrhea, B lymphocytopenia, Leukocytosis, Inflammation of t... OMIM:619281
Immunodeficiency 37
Infectious encephalitis, Colitis OMIM:616098
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lupus anticoagulant, Ileal ulcer, Skin rash, Lymphopenia, Antinuclear antibody positivity, Thromb... OMIM:616744
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Abnormal gastrointestinal vascular morphology, Arteritis,... ORPHA:70475
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis ORPHA:88643
Immunodeficiency, Common Variable, 11
Crohn's disease, Mucoid diarrhea, Inflammation of the large intestine OMIM:615767
Diarrhea 12, With Microvillus Atrophy
Abdominal distention, Microvillar PAS-positive secretory granules, Vomiting, Secretory diarrhea, ... OMIM:619445
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Gastroesophageal reflux, Diarrhea, Abdominal pain, Bloody diarrhea, Bowel i... ORPHA:35122
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Hyperechogenic kidney... OMIM:613885
Nephronophthisis 14
Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Cap Polyposis
Abdominal distention, Colorectal polyposis, Diarrhea, Abdominal pain, Constipation, Hematochezia,... ORPHA:160148
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea OMIM:269650
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Hirschsprung Disease
Intestinal obstruction, Aganglionic megacolon, Intestinal polyposis, Diarrhea, Functional abnorma... ORPHA:388
Pouchitis
Bowel urgency, Diarrhea, Abdominal pain, Clostridium difficile colitis, Bowel incontinence, Abdom... ORPHA:217067
Volvulus Of Midgut
Abdominal distention, Constipation, Intestinal malrotation, Volvulus, Neonatal intestinal obstruc... OMIM:193250
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 70
Decreased circulating total IgG, B lymphocytopenia, Decreased circulating antibody level, Achalas... OMIM:618969
Congenital Short Bowel Syndrome
Abdominal distention, Steatorrhea, Projectile vomiting, Chronic diarrhea, Abnormal peristalsis, C... OMIM:615237
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Abnormal gastric... ORPHA:263665
Immunodeficiency 104
Recurrent otitis media, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Ecz... OMIM:608971
Fryns Microphthalmia Syndrome
Unicornuate uterus, Microphthalmia, Anophthalmia OMIM:600776
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Pancytopenia, Decreased circulating antibody level, Folliculit... OMIM:300635
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Anoperineal fistula, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Re... OMIM:613960
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Crohn's disease, Chronic diarr... OMIM:618394
Linear Iga Dermatosis
Inflammation of the large intestine, Bladder neoplasm, Renal neoplasm, Autoimmunity ORPHA:46488
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Enterocolitis OMIM:620425
Vascular Hyalinosis
Diarrhea, Protein-losing enteropathy, Hematochezia, Malabsorption OMIM:277175
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Bardet-Biedl Syndrome 10
Hypogonadism, Renal insufficiency, Renal cyst OMIM:615987
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Diarrhea, B lymphocytopenia, Skin rash, Decreased circulating antibo... OMIM:618108
Microphthalmia, Syndromic 12
Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia OMIM:615524
Nephronophthisis 20
Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff... OMIM:617271
Trehalase Deficiency
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Malabsorption ORPHA:103909
Secondary Short Bowel Syndrome
Abdominal distention, Steatorrhea, Aganglionic megacolon, Diarrhea, Small intestinal dysmotility,... ORPHA:95427
Angioedema, Hereditary, 8
Diarrhea, Abdominal pain, Episodic vomiting OMIM:619367
Intestinal Dysmotility Syndrome
Abdominal distention, Diarrhea, Projectile vomiting, High palate, Decreased intestinal transit ti... OMIM:620045
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastrointestinal hemorrhage, Abnormal esophagus physiology, Gastroesophageal... ORPHA:2198
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Infundibulopelvic Dysgenesis
Microscopic hematuria, Multicystic kidney dysplasia OMIM:600989
Nephronophthisis 16
Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R... OMIM:615382
Trichohepatoenteric Syndrome 2
Diarrhea, Chronic diarrhea, Colitis, Bloody diarrhea, Chronic hepatitis, Villous atrophy OMIM:614602
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic... OMIM:618061
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Malnu... OMIM:246700
Ménétrier Disease
Anorexia, Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophi... ORPHA:2494
Small Bowel Atresia
Abdominal distention, Intestinal hypoplasia, Vomiting, Intestinal malrotation, Feeding difficulti... ORPHA:1201
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Sterile abscess, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn... OMIM:604416
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Esophagitis, Gastroesophageal reflux OMIM:109350
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Abdominal... OMIM:619802
Coproporphyria, Hereditary
Diarrhea, Abdominal pain, Increased fecal coproporphyrin III:coproporphyrin I ratio, Vomiting, Co... OMIM:121300
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal ma... OMIM:243150
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic diarrhea, Chronic neutropenia, Decreased specific antibody response to vaccination, Recur... OMIM:614700
Immunodeficiency 40
Intermittent diarrhea, Chronic oral candidiasis, Rectal fistula, Recurrent otitis media, Focal ac... OMIM:616433
Congenital Enterocyte Heparan Sulfate Deficiency
Diarrhea, Abdominal distention, Protein-losing enteropathy, Hematochezia ORPHA:103910
Colonic Atresia
Peptic ulcer, Abdominal distention, Duodenal stenosis, Colonic atresia ORPHA:1198
Hanac Syndrome
Hematuria, Multiple renal cysts, Renal insufficiency ORPHA:73229
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Chronic oral candidiasis, Decreased proportion of CD8-positive T cel... ORPHA:911
Rabies
Anorexia, Nausea and vomiting, Diarrhea ORPHA:770
Autoinflammation With Infantile Enterocolitis
Episodic vomiting, Skin rash, Enterocolitis, Secretory diarrhea, Feeding difficulties in infancy,... OMIM:616050
Bardet-Biedl Syndrome 16
External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c... OMIM:615993
Eosinophilic Gastroenteritis
Steatorrhea, Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Diarrhea, Abd... ORPHA:2070
Thymoma
Aplastic anemia, Neoplasm, Neoplasm of the gastrointestinal tract, Imbalanced hemoglobin synthesi... ORPHA:99867
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural killer cell phys... OMIM:613101
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Esophageal food impaction, Esophageal atresia, Gastroesophageal reflux, Eosinophilic microabscess... ORPHA:411696
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Polycystic kidney dysplasia, Renal angiomyolipoma OMIM:600273
Pancreatic Colipase Deficiency
Steatorrhea, Cholelithiasis, Chronic diarrhea, Exocrine pancreatic insufficiency, Fat malabsorption ORPHA:309108
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Decreased ci... ORPHA:436159
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Colitis, Chronic mucocutaneous candidiasis, Viral hepatitis, Malabsorption, Protract... OMIM:209920
Cholesteryl Ester Storage Disease
Diarrhea, Nausea and vomiting, Esophageal varix, Hepatic failure ORPHA:75234
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Vesicoureteral reflux, Renal hypoplasia, Abnormality of the uterus,... ORPHA:2470
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent otitis media, Abnormal immunoglobulin level, Increased circulating IgG level, Chronic d... ORPHA:98813
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts OMIM:600666
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Diarrhea, Abdominal pain, Colon cancer, Hematochezia, I... OMIM:174900
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Abdominal pain, Malabsorption OMIM:222900
Hyperparathyroidism 2 With Jaw Tumors
Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papillary renal cell carcin... OMIM:145001
Meckel Syndrome 13
Polycystic kidney dysplasia OMIM:617562
Visceral Myopathy 1
Abdominal distention, Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Pan... OMIM:155310
Alopecia Totalis
Inflammation of the large intestine ORPHA:700
Brunner Syndrome
Diarrhea OMIM:300615
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Anti-smooth muscle antibody positivity, Increased circulating antibo... ORPHA:2137
Bardet-Biedl Syndrome 4
Abnormality of the kidney, External genital hypoplasia, Renal cyst, Hypogonadism, Cryptorchidism OMIM:615982
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Interstitial pneumonitis OMIM:614878
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Neoplasm of the tongue, B-cell lymphoma, Neo... ORPHA:3261
Esophagitis, Eosinophilic, 2
Vomiting, Esophagitis, Dysphagia OMIM:613412
Esophagitis, Eosinophilic, 1
Vomiting, Esophagitis, Dysphagia OMIM:610247
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Abdominal pain, Necrotizing enterocolitis, High palate, Vomiting, Feeding difficulties OMIM:616809
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Gastrointestina... ORPHA:67
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Abnormal intestine morphology, Splenomegaly, Psoriasiform dermatitis, Dependency on int... ORPHA:37042
Inflammatory Skin And Bowel Disease, Neonatal, 1
Bloody diarrhea, Duodenitis, Blepharitis, Pustule, Erythroderma, Villous atrophy OMIM:614328
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia OMIM:137270
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Aniridia, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of th... OMIM:194072
Congenital Tufting Enteropathy
Abdominal distention, Steatorrhea, Elevated fecal osmolality, Abnormal small intestinal mucosa mo... ORPHA:92050
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Renal insufficiency, Hepatic cysts OMIM:173900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Anoperineal fistula, Thrombocytosis, Iron deficiency anemia, Diarrhea, Chronic ... OMIM:301074
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Intermittent diarrhea, Gastroesophageal reflux, Recurrent aspiration pneumonia, Feeding difficult... OMIM:619971
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Episodic abdominal pain, Vomiting, Intestin... OMIM:243180
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Aplasia of the ute... ORPHA:2237
Mitchell-Riley Syndrome
Annular pancreas, Diarrhea, Meckel diverticulum, Pancreatic hypoplasia, Intestinal malrotation, M... OMIM:615710
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption, Villous atrophy OMIM:600955
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Anal fissure, Crohn's disease, Acute pancreatitis, Lymphadenitis, Rheumatoid fa... OMIM:618935
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Pancreatic cysts, Rena... OMIM:263200
Trisomy 13
Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacement of the uret... ORPHA:3378
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Hydroureter, Rectovaginal fistula, Vesicovaginal fis... OMIM:236700
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Protein-losing enteropathy, Diarrhea, Abdominal pain, Glossitis, Hamartomatous polyposi... OMIM:175500
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea OMIM:614102
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Diarrhea, Crohn's disease, Arthritis, Eczematoid dermatitis, Atrophic gastritis, Bronchiectasis, ... OMIM:616100
Microvillus Inclusion Disease
Diarrhea, Abdominal distention, Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Pyoderma Gangrenosum
Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of the large i... ORPHA:48104
Peroxisome Biogenesis Disorder 3A (Zellweger)
Polycystic kidney dysplasia OMIM:614859
Cronkhite-Canada Syndrome
Anorexia, Intestinal polyposis, Stomach cancer, Diarrhea, Abdominal pain, Furrowed tongue, Hamart... ORPHA:2930
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Protein-losing enteropathy, Diarrhea, Vomi... ORPHA:79319
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Vomiting OMIM:610370
Anencephaly 2
Anophthalmia OMIM:619452
Femoral-Facial Syndrome
Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, Abnormal localization of kidne... ORPHA:1988
Shigellosis
Anorexia, Myocarditis, Acute colitis, Abdominal pain, Arthritis, Bloody diarrhea, Intestinal perf... ORPHA:810
Meckel Syndrome, Type 9
Ambiguous genitalia, Multicystic kidney dysplasia OMIM:614209
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cy... OMIM:613095
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intermittent diarrhea, Gastroparesis, Intestinal pseudo-obstruction, Diarrhea, Abdominal pain, In... OMIM:603041
Campomelia, Cumming Type
Polycystic kidney dysplasia, Pancreatic cysts OMIM:211890
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Eosinophilic liver infiltration, Colonic eosinophilia OMIM:618999
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abdominal distention, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Diarrhe... ORPHA:298
Dracunculiasis
Diarrhea, Arthritis, Skin rash, Recurrent cutaneous abscess formation, Nausea and vomiting ORPHA:231
Meconium Ileus
Chronic diarrhea, Meconium ileus, Microcolon OMIM:614665
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Rectal prolapse, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea, Bloody diarrhea, Intestin... ORPHA:90038
Dyskeratosis Congenita, Autosomal Recessive 8
Pancolitis, Inflammation of the large intestine, Esophageal stricture, Oral leukoplakia OMIM:620133
Multiple Endocrine Neoplasia, Type I
Peptic ulcer, Adenoma sebaceum, Diarrhea, Pancreatic islet cell adenoma, Esophagitis, Pituitary p... OMIM:131100
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Cholestasis, Progressive Familial Intrahepatic, 2
Diarrhea, Hepatocellular carcinoma, Fat malabsorption OMIM:601847
Polycystic Liver Disease 4 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts
Hepatic cysts, Renal cyst OMIM:617874
46,Xy Sex Reversal 3
Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la... OMIM:612965
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Vomiting OMIM:614265
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Duodenal ulcer OMIM:126840
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Bronchiectasis, Chronic diarrhea, Recurrent pneumonia, Colitis OMIM:301220
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Skin rash, Bloody diarrhea, Perinuclear antineutro... OMIM:617718
Gillessen-Kaesbach-Nishimura Syndrome
Polycystic kidney dysplasia, Bicornuate uterus OMIM:263210
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Enterocolitis, Decreased pineal volume OMIM:301108
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Protein-losing enteropathy, Villous atrophy, Diarrhea, Vomiting, Hepatic failure OMIM:602579
Complement Component 4B Deficiency
Recurrent otitis media, Chronic active hepatitis, Chronic diarrhea, Recurrent sinusitis, Recurren... OMIM:614379
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis OMIM:610125
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism, Ectopic kidney, Cystic renal dysplasia OMIM:613730
Duodenal Ulcer, Hyperpepsinogenemic I
Duodenal ulcer OMIM:126850
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Intestinal lymphangiectasia, Diarrhea, Abdominal pain, Abnormal intestine... OMIM:226300
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Giant cell hepatitis, Diarrhea, Acholic stools, Fat malabsorption, Hepatic failure OMIM:607765
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthritis, Enthesitis, Anteri... OMIM:106300
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the uterus, Nephrotic sy... OMIM:146255
Medullary cystic kidney disease 2
Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro... OMIM:603860
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Duodenal ulcer, Skin rash, Dysphagia, Early satiety, Recurrent cutaneous abscess formation, Gastr... OMIM:147060
American Trypanosomiasis
Myocarditis, Aganglionic megacolon, Diarrhea, Abdominal pain, Abnormal large intestine physiology... ORPHA:3386
Sandhoff Disease, Juvenile Form
Diarrhea, Dysphagia, Constipation ORPHA:309162
Benign Recurrent Intrahepatic Cholestasis
Anorexia, Pancreatitis, Cholelithiasis, Acholic stools, Abdominal pain, Chronic diarrhea, Hepatoc... ORPHA:65682
Iga Pemphigus
Increased circulating IgA level, Monoclonal elevation of circulating IgA, Eosinophilia, Pustule, ... ORPHA:555905
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Feeding difficulties OMIM:620270
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Steatorrhea, Duodenal ulcer, Malabsorption ORPHA:3217
Trisomy 1Q
Congenital megaureter, Anophthalmia, Hydronephrosis, Small scrotum, Ambiguous genitalia, Cryptorc... ORPHA:261344
Alg1-Cdg
Decreased liver function, Chronic diarrhea, Protein-losing enteropathy, Abnormality of the gastro... ORPHA:79327
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Gastroesophageal reflux, Atopic dermatitis, Eosinophilic infiltration of the esophagus, Gastroint... OMIM:620532
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Fat malabsorption ORPHA:71
Cyclic Neutropenia
Perianal abscess, Periodontitis, Abdominal pain, Sinusitis, Enterocolitis, Peritonitis, Otitis me... ORPHA:2686
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Arthritis, Skin rash, Inflammation of the large intestine, Poor appetite, Palmoplantar pustulosis... ORPHA:324964
Bile Acid Synthesis Defect, Congenital, 2
Diarrhea, Steatorrhea, Hepatic failure OMIM:235555
Hydrolethalus
Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia ORPHA:2189
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Abnormal external genitalia, Hydronephros... ORPHA:314588
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:77298
Sapho Syndrome
Steatorrhea, Chronic diarrhea, Abdominal pain, Skin rash, Arthritis, Synovitis, Inflammation of t... ORPHA:793
Rapadilino Syndrome
High, narrow palate, Diarrhea, High palate, Cleft palate, Feeding difficulties OMIM:266280
Indomethacin Embryofetopathy
Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1909
46,Xy Sex Reversal 11
Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G... OMIM:273250
Porphyria, Acute Intermittent
Diarrhea, Abdominal pain, Hepatocellular carcinoma, Vomiting, Nausea, Constipation, Paralytic ileus OMIM:176000
Bardet-Biedl Syndrome 6
Vaginal atresia, External genital hypoplasia, Hypospadias, Renal cyst OMIM:605231
Hermansky-Pudlak Syndrome 1
Abdominal pain, Colitis, Hematochezia, Inflammation of the large intestine OMIM:203300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Anti-smooth muscle antibody positivity, Sclerosing cholangitis, Anti-liver cytosolic antigen type... ORPHA:562639
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal distention, Steatorrhea, Diarrhea, Abdominal pain, Exocrine pancreatic insufficiency, K... ORPHA:309031
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthous stomatitis, Diarrhea, Abd... ORPHA:343
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Anophthalmia, Pelvic kidney, Bicornuate uterus, Cryptorchidism, Renal h... OMIM:601186
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Chronic diarrhea, Intestinal inflammation, Chilblains OMIM:619858
Immunodeficiency 17
Chronic oral candidiasis, Recurrent otitis media, Anoperineal fistula, Chronic diarrhea, Abnormal... OMIM:615607
Gastrocutaneous Syndrome
Peptic ulcer, Hiatus hernia ORPHA:2069
Cholestasis, Progressive Familial Intrahepatic, 1
Diarrhea, Fat malabsorption, Cholelithiasis OMIM:211600
Neuroendocrine Neoplasm Of Appendix
Anorexia, Bowel urgency, Ovarian neoplasm, Adrenocorticotropic hormone excess, Midgut malrotation... ORPHA:100079
Immunodeficiency 85 And Autoimmunity
Tube feeding, Chronic diarrhea, Eczematoid dermatitis, Vomiting, Erythroderma, Oligoarthritis, Vi... OMIM:619510
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy ORPHA:3033
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Rectovaginal fistula, Anal atresia, Intestinal malrotation, Cleft palate, S... OMIM:270420
Zollinger-Ellison Syndrome
Peptic ulcer, Intestinal obstruction, Gastrointestinal hemorrhage, Duodenal ulcer, Diarrhea, Pitu... ORPHA:913
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Immunodeficiency 82 With Systemic Inflammation
Duodenal ulcer, Crohn's disease, Skin rash, B-cell lymphoma, T lymphocytopenia, Splenomegaly, Bow... OMIM:619381
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Skin rash, Constipation, Infectious enceph... ORPHA:99745
Genitopalatocardiac Syndrome
Hypospadias, Renal cyst, Gonadal dysgenesis, male OMIM:231060
Zygomycosis
Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Sinusitis, Pericarditis, Pu... ORPHA:73263
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia ORPHA:2091
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidney dysplasia, ... OMIM:231680
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ... OMIM:266810
Autosomal Agammaglobulinemia
Chronic otitis media, Diarrhea, Arthritis, Skin rash, High palate, Sinusitis, Malabsorption, Conj... ORPHA:33110
Intestinal Botulism
Diarrhea, Nausea and vomiting, Dysphagia, Xerostomia ORPHA:178481
Meckel Syndrome 14
Polycystic kidney dysplasia, Microphthalmia, Aplasia of the uterus, Ambiguous genitalia OMIM:619879
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Sandifer Syndrome
Hematemesis, Episodic vomiting, Gastroesophageal reflux, Esophagitis, Feeding difficulties, Hiatu... ORPHA:71272
Odontochondrodysplasia 1
Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Chronic diarrhea, Abdominal pain, Skin rash, Vomiting, Ery... OMIM:142680
Mednik Syndrome
Diarrhea, Volvulus, Jejunal atresia, Microcolon OMIM:609313
Congenital Disorder Of Glycosylation, Type Id
Diarrhea, High palate, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Melena, Diarrhea, Abdominal pain, Acute pancreatitis, Vomiting, Naus... ORPHA:319218
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Defective T cell proliferation, Anoperineal fistula, Increased circulating IgG ... OMIM:618213
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Gastrointestinal Stromal Tumor
Esophageal neoplasm, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the stomach... ORPHA:44890
Thomas Syndrome
Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3316
Branchiootorenal Syndrome 1
Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst... OMIM:113650
Aromatic L-Amino Acid Decarboxylase Deficiency
Gastroesophageal reflux, Diarrhea, Constipation, Dysphagia, Feeding difficulties, Increased circu... ORPHA:35708
Angioedema, Hereditary, 1
Diarrhea, Abdominal pain, Intestinal edema, Vomiting OMIM:106100
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Abdominal distention, Protein-losing enteropathy, Diarrhea, Vomiting, C... OMIM:608104
Cerebrooculonasal Syndrome
Anophthalmia, Hypoplasia of penis ORPHA:66625
Chromosome 19P13.13 Deletion Syndrome
Diarrhea, Abdominal pain, Vomiting, Constipation, Feeding difficulties OMIM:613638
Yao Syndrome
Keratoconjunctivitis sicca, Diarrhea, Abdominal pain, Skin rash, Arthritis, Pericarditis, Inflamm... OMIM:617321
Ppoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Increase... ORPHA:97278
Sweet Syndrome
Panniculitis, Acute myeloid leukemia, Anemia, Chronic lymphatic leukemia, Myositis, Sterile absce... ORPHA:3243
Leydig Cell Hypoplasia
Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Hypoplasia of the Leydi... ORPHA:755
Mullerian Aplasia And Hyperandrogenism
Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute... OMIM:158330
Familial Pancreatic Carcinoma
Anorexia, Intermittent diarrhea, Intestinal pseudo-obstruction, Abdominal pain, Poor appetite, Co... ORPHA:1333
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polycystic kidney dysplasia, Renal hypoplasia, Hypospadias, Renal cyst OMIM:614091
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Diarrhea, Abdominal pain, Pancreatitis, Vomiting OMIM:620137
Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:1267
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Chronic diarrhea, Bronchiectasis, Recurrent infection of the... OMIM:615207
Erythermalgia, Primary
Diarrhea, Keratoconjunctivitis sicca, Xerostomia, Constipation OMIM:133020
Neuroendocrine Tumor Of The Rectum
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100082
Immunodeficiency 115 With Autoinflammation
Intermittent diarrhea, Intestinal lymphangiectasia, Superficial dermal perivascular inflammatory ... OMIM:620632
Maculopapular Cutaneous Mastocytosis
Diarrhea, Abdominal pain, Vomiting, Nausea ORPHA:79457
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Diarrhea, Nausea, Poor appetite, Dysphagia ORPHA:352447
Porphyria Due To Ala Dehydratase Deficiency
Abdominal distention, Episodic vomiting, Diarrhea, Abdominal pain, Constipation, Nausea, Increase... ORPHA:100924
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Diarrhea, Arthritis, Purulent rhinitis, Otitis media, Conjunctivitis, Pneumonia OMIM:601457
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Peroxisome Biogenesis Disorder 2A (Zellweger)
Polycystic kidney dysplasia, Clitoral hypertrophy, Cryptorchidism, Aminoaciduria OMIM:214110
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Tubular luminal dilatation, Renal cyst, Hyperechogenic kidneys, Reduced renal co... OMIM:619902
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Se... OMIM:175200
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen... OMIM:617914
Congenital Disorder Of Glycosylation, Type Il
Polycystic kidney dysplasia OMIM:608776
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Vaginal atresia, Anophthalmia OMIM:248450
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Chronic diarrhea, Eczematoid dermatitis, Keratitis, Bronchiectasis, Macro... OMIM:618523
Wiskott-Aldrich Syndrome
Hematemesis, Impaired lymphocyte transformation with phytohemagglutinin, Chronic diarrhea, Recurr... OMIM:301000
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Neutropenia, Hemophagocytosis, Anemia, Skin rash, Decreased circulating... ORPHA:540
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Pancreatitis, Colitis OMIM:615947
Malonyl-Coa Decarboxylase Deficiency
Diarrhea, Abdominal pain, Vomiting, Constipation, Chronic constipation OMIM:248360
Autoinflammatory Disease, Systemic, With Vasculitis
Increased T cell count, Anti-Sm antibody positivity, Splenomegaly, Abdominal pain, Atopic dermati... OMIM:620376
Hereditary Amyloidosis With Primary Renal Involvement
Decreased liver function, Intestinal obstruction, Gastrointestinal hemorrhage, Dyspepsia, Primary... ORPHA:85450
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Cryptorchidism, Anophthalmia ORPHA:139471
Pgm3-Cdg
Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce... ORPHA:443811
Diarrhea 13
Vomiting, Secretory diarrhea OMIM:620357
Foodborne Botulism
Diarrhea, Abdominal pain, Constipation, Dysphagia, Nausea and vomiting, Xerostomia ORPHA:228371
Immunodeficiency 92
Cholangitis, Sclerosing cholangitis, Thrombocytosis, Lymphocytosis, Chronic diarrhea, Decreased p... OMIM:619652
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting ORPHA:30925
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Gastroesophageal reflux, Necrotizing enterocolitis, Episodic vomiting OMIM:201475
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal intestine morphology, Oropharyngeal squamous cell carcinoma, Lymphopenia, Thyroiditis, H... ORPHA:391487
Refractory Celiac Disease
Protein-losing enteropathy, Jejunitis, Chronic diarrhea, Abdominal pain, Inflammatory abnormality... ORPHA:398063
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, T... ORPHA:157
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl... OMIM:601076
Bile Acid Malabsorption, Primary, 2
Chronic diarrhea, Steatorrhea OMIM:619481
Enteric Anendocrinosis
Diarrhea, Malabsorption, Vomiting ORPHA:83620
Graft Versus Host Disease
Gastrointestinal inflammation, Pneumonia, Inflammatory abnormality of the eye, Stomatitis, Abdomi... ORPHA:39812
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Isolated Agammaglobulinemia
Pneumonia, Inflammatory abnormality of the eye, Diarrhea, Arthritis, Skin rash, Sinusitis, Malabs... ORPHA:229717
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m... ORPHA:1916
Hereditary Mixed Polyposis Syndrome
Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Rectal polyposis, A... ORPHA:157794
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia ORPHA:2111
Folate Malabsorption, Hereditary
Feeding difficulties in infancy, Diarrhea, Malabsorption OMIM:229050
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Fem... ORPHA:2973
Reactive Arthritis
Recurrent aphthous stomatitis, Diarrhea, Abdominal pain, Arthritis, Pericarditis, Inflammation of... ORPHA:29207
Hereditary Angioedema Type 1
Abnormal soft palate morphology, Diarrhea, Abdominal pain, Abnormal uvula morphology, Vomiting, N... ORPHA:100050
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Gastrointestinal infarctions, Pancreatitis, Acute colitis, Abdominal pain, Diarrhea,... ORPHA:544482
Gastrointestinal Stromal Tumor
Constipation, Intestinal obstruction, Dysphagia, Gastrointestinal stroma tumor OMIM:606764
Bile Acid Synthesis Defect, Congenital, 3
Steatorrhea, Diarrhea, Bile duct proliferation, Hematochezia, Acholic stools, Hepatitis, Hepatic ... OMIM:613812
Nphp3-Related Meckel-Like Syndrome
Renal dysplasia, Multicystic kidney dysplasia ORPHA:3032
Fanconi Anemia, Complementation Group O
External genital hypoplasia, Renal cyst, Hydronephrosis, Stage 5 chronic kidney disease, Cryptorc... OMIM:613390
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Diarrhea, Feeding difficulties, Vomiting OMIM:612075
Grfoma
Intestinal obstruction, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, ... ORPHA:97261
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Rectal prolapse, Protein-losing enteropathy, Melena, High, narrow pa... ORPHA:79076
Vacterl With Hydrocephalus
Microphthalmia, Renal hypoplasia/aplasia, Abnormal fallopian tube morphology, Anophthalmia, Renal... ORPHA:3412
Glutaric Aciduria Iii
Diarrhea, Goiter, Vomiting OMIM:231690
Lissencephaly, X-Linked, 2
Diarrhea, High palate, Feeding difficulties in infancy, Decreased testicular size OMIM:300215
Bardet-Biedl Syndrome 12
Hydrometrocolpos, Hydroureter, Hydronephrosis, Vaginal atresia, Hypogonadism, Cystic renal dysplasia OMIM:615989
Congenital Disorder Of Glycosylation, Type Iil
Chronic diarrhea, Esophageal varix, Inflammation of the large intestine OMIM:614576
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Renal cyst OMIM:174050
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Rectovaginal fistula, Anophthalmia, Perineal fistula, R... ORPHA:2538
Neuroendocrine Tumor Of The Colon
Anorexia, Bowel urgency, Melena, Abdominal pain, Hypoactive bowel sounds, Bloody diarrhea, Lack o... ORPHA:100080
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst OMIM:614870
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Hereditary Folate Malabsorption
Anorexia, Cheilitis, Gastroesophageal reflux, Glossitis, Diarrhea, Nausea and vomiting ORPHA:90045
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Polycystic kidney dysplasia, Ethylmalonic aciduria, 3-Methylglutaric aciduria,... ORPHA:26791
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Recurrent otitis media OMIM:613501
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Arthritis, Eczematoid dermatitis, Hepatitis, Erythroderma, Glomerulonephritis, ... OMIM:304790
Mednik Syndrome
Abnormal intestine morphology ORPHA:171851
Medullary Thyroid Carcinoma
Diarrhea, Pheochromocytoma, Primary hyperparathyroidism, Nodular goiter, Dysphagia ORPHA:1332
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Myoglobinuria, Polycystic kidney dyspla... ORPHA:228308
Attrv30M Amyloidosis
Diarrhea, Constipation ORPHA:85447
Agammaglobulinemia 6, Autosomal Recessive
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Conjunctivitis, Chronic sinusitis OMIM:612692
Immunodeficiency 19
Chronic diarrhea, Recurrent otitis media OMIM:615617
Cog7-Cdg
Diarrhea, Feeding difficulties ORPHA:79333
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Aganglionic megacolon, Diarrhea, Pheochromocytoma, High palate, Constipation... OMIM:162300
Microscopic Polyangiitis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Abdominal pain... ORPHA:727
Congenital Disorder Of Glycosylation, Type Iij
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, Hepati... OMIM:613489
Hypocalciuric Hypercalcemia, Familial, Type Ii
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism OMIM:145981
Lumbar Syndrome
Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Renal duplication, Bifid uteru... ORPHA:83628
Inhalational Botulism
Diarrhea, Nausea and vomiting, Xerostomia, Constipation ORPHA:254504
Congenital-Onset Steinert Myotonic Dystrophy
Encopresis, Gastroesophageal reflux, Diarrhea, Abdominal pain, Constipation, Dysphagia ORPHA:589821
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia OMIM:226730
Reticular Dysgenesis
Diarrhea, Chronic otitis media, Skin rash, Malabsorption ORPHA:33355
Joubert Syndrome 16
Nephronophthisis, Renal cyst OMIM:614465
46,Xy Sex Reversal 7
Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G... OMIM:233420
Glucose/Galactose Malabsorption
Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Malabsorption OMIM:606824
Kaposi Sarcoma
Diarrhea, Skin rash, Abnormality of the gastrointestinal tract ORPHA:33276
Cockayne Syndrome Type 2
Cryptorchidism, Male hypogonadism, Anophthalmia ORPHA:90322
Spontaneous Periodic Hypothermia
Diarrhea, Nausea and vomiting, Skin rash ORPHA:29822
Martinez-Frias Syndrome
Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Intestinal hypoplasia, Tr... OMIM:601346
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Diarrhea, Pneumonia, High palate OMIM:614069
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polycystic kidney dysplasia, Pancreatic cysts, Ureteral atresia, Renal dysplasia... OMIM:208540
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi... ORPHA:325124
Somatostatinoma
Anorexia, Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancr... ORPHA:97283
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Chronic diarrhea, Abdominal pain, Lymphadenitis, Eczematoid dermatitis, Inflammation of the large... OMIM:615895
Hyperprolinemia Type 2
Diarrhea, Abdominal pain, Dysphagia, Feeding difficulties ORPHA:79101
Walker-Warburg Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis ORPHA:899
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va... ORPHA:168563
Congenital Disorder Of Glycosylation, Type Ii
Diarrhea, Nasogastric tube feeding, High palate, Gastroesophageal reflux OMIM:607906
Immunodeficiency 31C
Chronic oral candidiasis, Protein-losing enteropathy, Diarrhea, Chronic mucocutaneous candidiasis... OMIM:614162
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Steatorrhea, Vomiting OMIM:605911
Enterokinase Deficiency
Diarrhea OMIM:226200
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Glossitis, Chronic diarrhea, Poor appetite, Macroglossia ORPHA:2221
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Aplasia of the bladder, Bicornuate uterus, Unicornuate uterus, Renal... OMIM:200980
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t... ORPHA:3109
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Esophagitis, Gastroesophageal reflux, Feeding difficulties ORPHA:79350
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Chronic diarrhea OMIM:619446
Dengue Fever
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Skin rash, Nausea and vomiting ORPHA:99828
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s... ORPHA:90797
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Sepsis In Premature Infants
Decreased liver function, Abdominal distention, Diarrhea, Functional abnormality of the gastroint... ORPHA:90051
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Renal cyst, Chronic kidney disease OMIM:617056
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis OMIM:613091
Neuroendocrine Tumor Of Stomach
Hematemesis, Intermittent diarrhea, Anorexia, Bowel urgency, Melena, Bloody diarrhea, Lack of bow... ORPHA:100075
Microphthalmia With Limb Anomalies
Microphthalmia, Unilateral cryptorchidism, Anophthalmia OMIM:206920
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Bloody diarrhea, Feeding difficulties OMIM:615119
Blue Rubber Bleb Nevus
Intussusception, Rectal prolapse, Volvulus, Intestinal bleeding OMIM:112200
Methionine Malabsorption Syndrome
Diarrhea OMIM:250900
Arima Syndrome
Polyuria, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, ... OMIM:243910
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Periodontitis, Diarrhea, Abdominal pain, Rhinitis, Recurrent infec... ORPHA:486
Combined Immunodeficiency-Enteropathy Spectrum
Abdominal distention, Gastrointestinal atresia, Rectal abscess, Bloody diarrhea, Hypoplasia of th... ORPHA:436252
Malakoplakia
Neoplasm of the rectum, Diarrhea, Abdominal pain, Skin rash, Inflammatory abnormality of the skin... ORPHA:556
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Diarrhea, Recurrent pneumonia, Recurrent sinusitis, Conjunctivitis, Bronc... OMIM:240500
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Chronic diarrhea, Sinusitis, Hematochezia, Abnormal platelet m... ORPHA:906
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Chronic diarrhea, Rectal abscess, Recurrent sinusitis, Recurrent pneumoni... OMIM:601495
Wolfram Syndrome 2
Peptic ulcer OMIM:604928
Plague
Hematemesis, Anorexia, Carbuncle, Inflammatory abnormality of the eye, Diarrhea, Abdominal pain, ... ORPHA:707
Irida Syndrome
Abnormal intestine morphology ORPHA:209981
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Anorexia, Chronic oral candidiasis, Diarrhea, Erythroderma, Recurrent pneumonia, Otitis media, Pn... ORPHA:169160
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Erythroderma, Vomiting, Malnutrition ORPHA:79456
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Diarrhea, Abdominal pain, Skin rash, Arthritis, Myositis, Constipation, V... ORPHA:32960
Glucagonoma
Intestinal obstruction, Gastrointestinal hemorrhage, Steatorrhea, Neoplasm of the pancreas, Skin ... ORPHA:97280
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Peroxisome Biogenesis Disorder 5A (Zellweger)
Clitoral hypertrophy, Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal cortical microc... OMIM:614866
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, External genital hypoplasia, Anophthalmia, Hypoplasia of penis, Hypogonadism, Cry... ORPHA:2250
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent otitis media, Diarrhea, Sinusitis, Recurrent pneumonia, Inflammatory abnormality of the... ORPHA:277
Central Diabetes Insipidus
Anorexia, Nausea and vomiting, Diarrhea ORPHA:178029
Erythroderma Desquamativum
Diarrhea, Seborrheic dermatitis ORPHA:314
Intellectual Developmental Disorder, Autosomal Dominant 51
Recurrent otitis media, Chronic diarrhea, Poor suck, Unilateral cryptorchidism, Feeding difficult... OMIM:617788
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure ORPHA:331
Cystic Fibrosis
Steatorrhea, Rectal prolapse, Pancreatitis, Diarrhea, Meconium ileus, Recurrent pneumonia, Exocri... OMIM:219700
Inflammatory Skin And Bowel Disease, Neonatal, 2
Vomiting, Pustule, Recurrent pneumonia, Secretory diarrhea OMIM:616069
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Familial Mediterranean Fever
Diarrhea, Crohn's disease, Abdominal pain, Arthritis, Episodic abdominal pain, Vomiting, Pericard... OMIM:249100
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea OMIM:616355
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Diarrhea, Bronchiectasis, Recurrent pneumonia, Recurrent sinusitis, Conju... OMIM:607594
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Chronic diarrhea, Skin rash, Hypoplasia of the thymus, Recurrent pneumo... OMIM:300400
Idiopathic Hypereosinophilic Syndrome
Chronic diarrhea, Dysphagia, Splenomegaly, Cholangitis, Abdominal pain, Failure to thrive, Neutro... ORPHA:3260
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Parathyroid carcinoma, Diarrhea, Testicular neoplasm, Pituitary growth hormone cell... ORPHA:276152
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux ORPHA:1166
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ... ORPHA:99429
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Inflammation of the large intestine, Dysphagia, Bronchiectasis, Intestinal ... OMIM:619708
Kindler Epidermolysis Bullosa
Cheilitis, Periodontitis, Esophagitis, Inflammation of the large intestine, Conjunctivitis, Dysph... ORPHA:2908
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:617866
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Diarrhea, Protruding tongue, Sinusitis, Bronchiectasis, Malabsorption, Pneumonia, Macroglossia OMIM:242860
Adiposis Dolorosa
Diarrhea, Arthritis, Constipation, Recurrent skin infections, Xerostomia ORPHA:36397
Celiac Disease, Susceptibility To, 1
Abdominal distention, Steatorrhea, Recurrent aphthous stomatitis, Stomatitis, Abdominal pain, Dia... OMIM:212750
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Polycystic kidney dysplasia, Pancreatic cysts, Renal cyst, Buphthalmos OMIM:610199
Cholesteryl Ester Storage Disease
Steatorrhea, Diarrhea, Esophageal varix, Vomiting, Acute hepatic failure, Protuberant abdomen, He... OMIM:278000
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst OMIM:611561
Papillorenal Syndrome
Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi... OMIM:120330
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Meckel Syndrome
Microphthalmia, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Male pseudoherm... ORPHA:564
Snakebite Envenomation
Diarrhea, Neuromuscular dysphagia, Vomiting, Hypopituitarism, Pseudobulbar paralysis ORPHA:449285
Phelan-Mcdermid Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Polycystic kidney dysplasia OMIM:606232
Hyaline Fibromatosis Syndrome
Diarrhea OMIM:228600
Cutaneous Mastocytoma
Diarrhea, Abdominal pain, Vomiting, Nausea, Maculopapular exanthema ORPHA:79455
Renal Cysts And Diabetes Syndrome
Abnormality of the kidney, Multiple glomerular cysts, Hypospadias, Unilateral renal agenesis, Abn... OMIM:137920
Familial Adenomatous Polyposis 4
Uterine leiomyoma, Ovarian cyst, Renal cyst OMIM:617100
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic diarrhea, Chronic mucocutaneous candidiasis, Rectal abscess, Osteomyelitis OMIM:116920
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re... OMIM:604387
Lassa Fever
Diarrhea, Abdominal pain, Dysphagia, Conjunctivitis, Nausea and vomiting ORPHA:99824
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the... OMIM:614841
Familial Mediterranean Fever
Intestinal obstruction, Gastrointestinal infarctions, Pancreatitis, Diarrhea, Abdominal pain, Ski... ORPHA:342
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Diarrhea, Reye syndrome-like episodes, Vomiting, Nausea, Poor appetite, Feeding difficulties ORPHA:927
Syndromic Diarrhea
Intractable diarrhea, Villous atrophy, Gastritis, Bloody diarrhea, Hypoplasia of the thymus, Hepa... ORPHA:84064
Immunodeficiency 46
Chronic diarrhea, Chronic oral candidiasis, Conjunctivitis OMIM:616740
Immunodeficiency By Defective Expression Of Mhc Class Ii
Acute otitis media, Sclerosing cholangitis, Diarrhea, Skin rash, Chronic mucocutaneous candidiasi... ORPHA:572
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Intestinal lymphedema, Chronic diarrhea, Vomiting, Gastrointestinal eosin... ORPHA:90363
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Vomiting, Osmotic diarrhea, Malnutrition, Hyperactive bowel sounds ORPHA:35710
Immunodeficiency 69
Diarrhea, Skin rash OMIM:618963
Meckel Syndrome, Type 1
Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Polycystic kidney dysplas... OMIM:249000
Aggressive Systemic Mastocytosis
Decreased liver function, Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Abdomi... ORPHA:98850
Cog4-Cdg
Intermittent diarrhea, Recurrent infection of the gastrointestinal tract, Feeding difficulties, F... ORPHA:263501
Cocaine Intoxication
Gastrointestinal infarctions, Abdominal pain, Bloody diarrhea, Intestinal perforation, Vomiting, ... ORPHA:90068
Rhyns Syndrome
Nephronophthisis, Multicystic kidney dysplasia ORPHA:140976
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Episodic vomiting, Abdominal pain, Ileoileal intussusception, ... OMIM:619377
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Diarrhea, Recurrent pneumonia, Bronchiec... OMIM:150550
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Diarrhea,... OMIM:240300
Immunodeficiency 48
Pneumonia, Chronic diarrhea, Eczematoid dermatitis OMIM:269840
Carcinoid Syndrome
Lack of bowel sounds, Episodic abdominal pain, Small intestine carcinoid, Nausea and vomiting, Pr... ORPHA:100093
Immunodeficiency 27A
Anorexia, Diarrhea, Salmonella osteomyelitis, Pneumonia, Increased inflammatory response OMIM:209950
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Cryptorch... OMIM:206900
X-Linked Agammaglobulinemia
Chronic otitis media, Chronic diarrhea, Skin rash, Arthritis, Glossoptosis, Sinusitis, Recurrent ... ORPHA:47
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Esophageal ulceration, Gastric ulcer OMIM:618372
Late-Onset Isolated Acth Deficiency
Anorexia, Hypoparathyroidism, Diarrhea, Abdominal pain, Celiac disease, Adrenocorticotropic hormo... ORPHA:199299
Ovarian Dysgenesis 2
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:300510
Ileal Neuroendocrine Tumor
Intermittent diarrhea, Episodic vomiting, Episodic abdominal pain, Small intestine carcinoid, Nau... ORPHA:100078
Renal Coloboma Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins... ORPHA:1475
Cockayne Syndrome Type 1
Male hypogonadism, Anophthalmia, Proteinuria, Cryptorchidism, Renal insufficiency ORPHA:90321
Rat-Bite Fever
Morbilliform rash, Myocarditis, Pancreatitis, Diarrhea, Arthritis, Parotitis, Skin rash, Lymphade... ORPHA:31205
Neonatal Inflammatory Skin And Bowel Disease
Anal fissure, Bloody diarrhea, Recurrent bacterial skin infections, Blepharitis, Pustule, Recurre... ORPHA:294023
Premature Ovarian Failure 7
Gonadal dysgenesis, Clitoral hypertrophy, Hypoplasia of the uterus OMIM:612964
Thrombotic Thrombocytopenic Purpura
Diarrhea, Abdominal pain ORPHA:54057
Joubert Syndrome 20
Renal cyst OMIM:614970
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia ORPHA:3270
Isolated Polycystic Liver Disease
Multiple renal cysts ORPHA:2924
Combined Malonic And Methylmalonic Acidemia
Vomiting, Intermittent diarrhea, Nasogastric tube feeding ORPHA:289504
Pediatric Systemic Lupus Erythematosus
Abdominal distention, Abnormality of the gastrointestinal tract, Diarrhea, Abdominal pain, Skin r... ORPHA:93552
Turcot Syndrome With Polyposis
Intestinal polyposis, Melena, Diarrhea, Abdominal pain, Adenomatous colonic polyposis, Vomiting, ... ORPHA:99818
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Renal cyst, Renal hypoplasia, Proteinuria, Renal insufficiency OMIM:610205
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diarrhea ORPHA:49827
Immunodeficiency 15B
Chronic diarrhea, Chronic oral candidiasis OMIM:615592
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4-positive T cells, Necro... OMIM:619573
Peroxisome Biogenesis Disorder 11A (Zellweger)
Multiple renal cysts, Renal cyst OMIM:614883
Gist-Plus Syndrome
Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor OMIM:175510
Pancreatoblastoma
Abdominal distention, Diarrhea, Abdominal pain, Vomiting, Pancreatic calcification ORPHA:677
Pachydermoperiostosis
Peptic ulcer, Gastrointestinal hemorrhage, Seborrheic dermatitis, Arthritis, Eczematoid dermatiti... ORPHA:2796
Congenital Toxoplasmosis
Diarrhea ORPHA:858
Renal Hypoplasia, Bilateral
Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst... ORPHA:97362
Epidermal Nevus Syndrome
Polycystic kidney dysplasia ORPHA:35125
Alg8-Cdg
Abnormality of the gastrointestinal tract, Diarrhea, Vomiting, Feeding difficulties, Macroglossia ORPHA:79325
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Pancreatitis, Testicular neoplasm, Episodic abdominal pain, Primary hyperparathyroi... ORPHA:99880
Nephronophthisis 1
Polyuria, Nephronophthisis, Hyposthenuria, Tubular basement membrane disintegration, Tubulointers... OMIM:256100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp... OMIM:614837
Nephronophthisis 4
Polyuria, Nephronophthisis, Tubulointerstitial fibrosis, Renal tubular atrophy, Stage 5 chronic k... OMIM:606966
Roberts Syndrome
Microphthalmia, Clitoral hypertrophy, Long penis, Polycystic kidney dysplasia, Cryptorchidism ORPHA:3103
Townes-Brocks Syndrome 2
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia OMIM:617466
Whipple Disease
Anorexia, Myocarditis, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Arthritis, Myositis... ORPHA:3452
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Hematuria, Renal cyst, Renal insufficiency OMIM:611773
Parathyroid Carcinoma
Peptic ulcer, Parathyroid carcinoma, Pancreatitis, Testicular neoplasm, Episodic abdominal pain, ... ORPHA:143
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Intractable diarrhea OMIM:609536
Classic Galactosemia
Diarrhea, Vomiting, Feeding difficulties, Cryptorchidism, Hepatic failure ORPHA:79239
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Functional abnormality of the gastrointestinal tract, Chronic diarrh... ORPHA:90362
Glycogen Storage Disease Ib
Pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Gout, Pancreatic fib... OMIM:232220
Intussusception
Intussusception OMIM:147710
Glycogen Storage Disease Ixb
Diarrhea OMIM:261750
Joubert Syndrome 39
Polycystic kidney dysplasia OMIM:619562
Say Syndrome
Cystic renal dysplasia, Proximal renal tubular acidosis OMIM:181180
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Intestinal obstruction, Chronic diarrhea, Recurrent otitis media OMIM:600802
Congenital Myopathy 20
Chronic diarrhea, High palate OMIM:620310
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatocellular adenoma, Pancreatitis, Periodontitis, Diarrhea, Thyroiditis, Hepatocellular carcin... ORPHA:79259
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:264350
Paroxysmal Nocturnal Hemoglobinuria 2
Diarrhea, Abdominal pain OMIM:615399
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Protein-losing enteropathy, Stomach cancer... ORPHA:2929
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Lymphocytic interstitial pneumonia, Recurrent otitis media OMIM:618495
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Ovarian cyst, Proteinuria, Hepatic cysts, Pancreatic cysts OMIM:311200
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Caspase 8 Deficiency
Pneumonia, Chronic diarrhea, Eczematoid dermatitis OMIM:607271
Plasminogen Deficiency, Type I
Duodenal ulcer, Nephritis, Periodontitis, Conjunctivitis OMIM:217090
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Renal cell carcinoma, Renal cyst OMIM:135150
Systemic Mastocytosis With Associated Hematologic Neoplasm
Diarrhea, Abdominal pain, Peptic ulcer, Nausea ORPHA:98849
Boutonneuse Fever
Diarrhea, Abdominal pain, Skin rash, Nausea, Maculopapular exanthema ORPHA:83313
Mucopolysaccharidosis, Type Ii
Recurrent otitis media, Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Macroglossia OMIM:309900
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Diarrhea, Vomiting, Constipation, Feeding difficulties in infancy OMIM:223900
Carney Triad
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Abdominal pain, Pheochromocytoma, Gastrointestin... ORPHA:139411
Shwachman-Diamond Syndrome 2
Steatorrhea, Hyperechogenic pancreas, Diarrhea, High palate, Exocrine pancreatic insufficiency OMIM:617941
Joubert Syndrome 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst OMIM:611560
Multiple Endocrine Neoplasia Type 1
Hematemesis, Duodenal ulcer, Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone... ORPHA:652
Selective Igm Deficiency
Chronic diarrhea, Crohn's disease, Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Aller... ORPHA:331235
Hyperzincemia With Functional Zinc Depletion
Diarrhea, Skin rash OMIM:601979
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Renal hypoplasia, Optic nerve aplasia, Small scrotum, Cryptorchidism ORPHA:264200
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Diarrhea, Feeding difficulties, Vomiting OMIM:250940
46,Xy Sex Reversal 4
Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct... OMIM:154230
Tuberous Sclerosis Complex
Abnormality of the kidney, Polycystic kidney dysplasia, Renal cell carcinoma, Renal cyst, Chronic... ORPHA:805
Acute Intermittent Porphyria
Abdominal distention, Diarrhea, Abdominal pain, Hepatocellular carcinoma, Constipation, Nausea an... ORPHA:79276
Vaginal Atresia
Transverse vaginal septum, Vaginal hematocele, Imperforate hymen, Bicornuate uterus, Cervicitis, ... ORPHA:65681
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Unilateral cryptorchidism, Hy... ORPHA:96149
Methanol Poisoning
Diarrhea, Abdominal pain, Vomiting ORPHA:31825
Neuropathy, Hereditary Sensory And Autonomic, Type V
Diarrhea, Constipation, Osteoarthritis, Septic arthritis, Osteomyelitis OMIM:608654
22Q11.2 Deletion Syndrome
Microphthalmia, Hypospadias, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia... ORPHA:567
Hypocalciuric Hypercalcemia, Familial, Type Iii
Peptic ulcer, Pancreatitis, Primary hyperparathyroidism OMIM:600740
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Cryptorchidism, Renal agenesis, Varicocele,... ORPHA:2044
Chronic Thromboembolic Pulmonary Hypertension
Lupus anticoagulant, Antiphospholipid antibody positivity, Myeloproliferative disorder, Inflammat... ORPHA:70591
Trisomy X
Precocious puberty, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3375
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ... OMIM:614527
Good Syndrome
Diarrhea, Sinusitis, Dysphagia, Bronchiectasis, Recurrent skin infections ORPHA:169105
Mucopolysaccharidosis, Type Iiic
Diarrhea, Dysphagia OMIM:252930
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Chronic oral candidiasis, Chronic diarrhea, Thyroiditis, Eczematoid dermatitis, Erythroderma, Pso... OMIM:606367
Joubert Syndrome 18
Horseshoe kidney, Renal cyst OMIM:614815
Aa Amyloidosis
Chronic diarrhea, Abdominal pain, Vomiting, Nausea, Malabsorption, Malnutrition ORPHA:85445
19P13.13 Microdeletion Syndrome
Diarrhea, Abdominal pain, Functional abnormality of the gastrointestinal tract, High palate, Vomi... ORPHA:357001
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Pancreatitis, Cholelithiasis, Abnormal large intestine physiology, A... ORPHA:171
Necrotizing Enterocolitis
Abdominal distention, Abdominal rigidity, Diarrhea, Hypoactive bowel sounds, Bloody diarrhea, Vom... ORPHA:391673
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Pancreatitis, Diarrhea, Abdominal pain, Acute hepatic failure, Dysph... ORPHA:36426
Hajdu-Cheney Syndrome
Polycystic kidney dysplasia, Cryptorchidism, Hypospadias, Renal cyst OMIM:102500
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Diarrhea, Thyroiditis, Eczematoid dermatitis, Sin... ORPHA:83471
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Diarrhea, Feeding difficulties, Vomiting OMIM:177735
Immunodeficiency, Common Variable, 7
Chronic diarrhea OMIM:614699
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Chronic diarrhea OMIM:615285
Perrault Syndrome 6
Streak ovary, Hypoplasia of the uterus OMIM:617565
Oeis Complex
Epispadias, Ambiguous genitalia, male, Hydroureter, Duplicated collecting system, Vesicovaginal f... OMIM:258040
Hypocomplementemic Urticarial Vasculitis
Inflammatory abnormality of the eye, Diarrhea, Abdominal pain, Skin rash, Arthritis, Episcleritis... ORPHA:36412
Maternal Uniparental Disomy Of Chromosome 4
Diarrhea, Fat malabsorption, Malnutrition ORPHA:96180
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis OMIM:263520
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Cryptorchidism, Aniridia, Anophthalmia ORPHA:1101
Cholestasis, Progressive Familial Intrahepatic, 3
Diarrhea, Malabsorption, Bile duct proliferation OMIM:602347
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Microphthalmia, Clitoral hypertrophy, Hypospadias, Abnormal fallopian tube morphology... ORPHA:2556
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst OMIM:603194
Menke-Hennekam Syndrome 2
Duodenal ulcer, Chronic constipation OMIM:618333
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Hypoplasia... OMIM:278850
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Polycystic kidney dysplasia, Micropenis OMIM:616546
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Pneumonia, Pyoderma, Recurrent otitis medi... OMIM:307200
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Diarrhea, Esophageal varix, Vomiting, Nausea, Polycystic ovaries ORPHA:264580
Fraser Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anophthalmia, Abnorma... ORPHA:2052
Joubert Syndrome 21
Hyperechogenic kidneys, Renal cyst, Anophthalmia OMIM:615636
Galactosemia I
Decreased liver function, Diarrhea, Vomiting OMIM:230400
Diaphanospondylodysostosis
Multiple renal cysts ORPHA:66637
Immunodeficiency 7
Diarrhea, Chronic oral candidiasis, Recurrent otitis media OMIM:615387
Legionnaires Disease
Anorexia, Myocarditis, Pancreatitis, Diarrhea, Abdominal pain, Pericarditis, Endocarditis, Nausea... ORPHA:549
Cold Agglutinin Disease
Diarrhea, Nausea and vomiting ORPHA:56425
Glycogen Storage Disease Ic
Chronic pancreatitis, Stomatitis, Hepatocellular carcinoma, Inflammation of the large intestine, ... OMIM:232240
Infantile Systemic Hyalinosis
Steatorrhea, Abnormality of the gastrointestinal tract, Chronic diarrhea, Malabsorption, Feeding ... ORPHA:2176
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Enlarged kidney, Polycystic kidney dysplasia, Recurrent urinary tract infect... ORPHA:731
Ethylmalonic Encephalopathy
Diarrhea ORPHA:51188
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Absent vas deferens, Hypospadias, Renal insufficiency, Renal... ORPHA:93111
Perrault Syndrome 3
Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:614129
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Bifid scrotum, Renal agenesis, Hydronephrosis, ... ORPHA:887
Verheij Syndrome
Renal agenesis, Renal hypoplasia, Optic nerve hypoplasia, Renal cyst OMIM:615583
Fraser Syndrome 1
Bilateral microphthalmos, Renal hypoplasia/aplasia, Clitoral hypertrophy, Hypospadias, Anophthalm... OMIM:219000
Axial Osteomalacia
Renal cyst OMIM:109130
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Diarrhea, Vomiting ORPHA:42
Satoyoshi Syndrome
Diarrhea, Malabsorption OMIM:600705
Intellectual Developmental Disorder, X-Linked 112
Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Enuresis... OMIM:301111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Decreased glomerular filtration rate, Glomerular sclerosis, Tubulointerstitia... OMIM:174000
Wild Type Attr Amyloidosis
Intermittent diarrhea, Chronic diarrhea, Bowel incontinence, Gastrointestinal dysmotility ORPHA:330001
Diarrhea 10, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Secretory diarrhea, Hematochezia, Feeding difficulties, Cryptorchidism OMIM:618183
Caroli Disease
Polycystic kidney dysplasia ORPHA:53035
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Nausea, Neoplasm of the liver ORPHA:100085
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Intestinal malrotation, Microcolon, Hepatic failure OMIM:619431
Bardet-Biedl Syndrome 17
Polyuria, Renal cyst, Hypogonadism, Stage 5 chronic kidney disease, Micropenis OMIM:615994
Bacterial Toxic-Shock Syndrome
Myocarditis, Diarrhea, Abdominal pain, Skin rash, Arthritis, Myositis, Hepatitis, Vomiting, Nause... ORPHA:36234
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Renal hypoplasia, Ureteral agenesis, Renal cyst OMIM:236500
Ogden Syndrome
Enlarged kidney, Polycystic kidney dysplasia, Decreased testicular size, Global glomerulosclerosi... OMIM:300855
Familial Hypocalciuric Hypercalcemia
Nausea and vomiting, Pancreatitis, Episodic abdominal pain, Peptic ulcer ORPHA:405
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Melena, Abnormal gastrointestinal tract morphology, Blo... ORPHA:464321
Aromatic L-Amino Acid Decarboxylase Deficiency
Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation OMIM:608643
Fumarase Deficiency
Mitochondrial swelling, Necrotizing enterocolitis, High palate, Hepatic failure OMIM:606812
Fibular Hemimelia
Renal dysplasia, Anophthalmia ORPHA:93323
Lysosomal Acid Lipase Deficiency
Decreased liver function, Abdominal distention, Steatorrhea, Malnutrition, Diarrhea, Abdominal pa... ORPHA:275761
Acrodermatitis Enteropathica
Anorexia, Cheilitis, Glossitis, Chronic diarrhea, Furrowed tongue, Blepharitis, Poor appetite, Pu... ORPHA:37
Microsporidiosis
Intermittent diarrhea, Chronic diarrhea, Sinusitis, Anorexia, Myocarditis, Cholangitis, Abdominal... ORPHA:2552
Dpm1-Cdg
Diarrhea, High, narrow palate, Gastrostomy tube feeding in infancy ORPHA:79322
Holoprosencephaly
Microphthalmia, Anophthalmia, Hypoplasia of penis, Proteinuria, Cryptorchidism, Abnormality of th... ORPHA:2162
Meckel Syndrome 12
Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t... OMIM:616258
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Diarrhea ORPHA:1842
Car T Cell Therapy-Associated Cytokine Release Syndrome
Diarrhea, Skin rash, Vomiting, Nausea, Poor appetite, Increased inflammatory response ORPHA:542323
Premature Ovarian Failure 13
Hypoplasia of the uterus OMIM:617442
Exstrophy-Epispadias Complex
Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen... ORPHA:322
Systemic Capillary Leak Syndrome
Myocarditis, Pancreatitis, Diarrhea, Abdominal pain, Pericarditis ORPHA:188
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting OMIM:212140
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Diarrhea, Superficial dermal perivascular inflammatory infiltrate, V... ORPHA:324636
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Bronchiectasis ORPHA:411703
Cholera
Diarrhea, Abdominal pain, Aspiration pneumonia, Vomiting, Abdominal cramps, Achlorhydria ORPHA:173
Familial Glucocorticoid Deficiency
Anorexia, Azoospermia, Diarrhea, Episodic abdominal pain, Cryptorchidism, Vomiting, Constipation,... ORPHA:361
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Multicystic kidney dysplasia ORPHA:3301
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Diarrhea, Abdominal pain, Abnormal testis morphology ORPHA:54251
Mirage Syndrome
Gastroesophageal reflux, Chronic diarrhea, Aspiration pneumonia, Decreased testicular size, Achal... OMIM:617053
Charge Syndrome
Microphthalmia, Anophthalmia, Labial hypoplasia, Vesicoureteral reflux, Bifid scrotum, Abnormal m... ORPHA:138
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Nausea OMIM:615084
Congenital Disorder Of Glycosylation, Type Ia
Steatorrhea, Diarrhea, Vomiting, Pericarditis, Feeding difficulties in infancy, Villous atrophy OMIM:212065
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Triokinase And Fmn Cyclase Deficiency Syndrome
Chronic diarrhea, Pancreatitis OMIM:618805
17Q12 Microdeletion Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Shawl scrotum, Cryptorchidism, Multic... ORPHA:261265
Middle Ear Neuroendocrine Tumor
Chronic diarrhea ORPHA:100084
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Secretory diarrhea, Elevated stool chloride content OMIM:214700
Immunodeficiency, Common Variable, 14
Chronic diarrhea, Psoriasiform dermatitis, Recurrent sinusitis OMIM:617765
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
B4Galt1-Cdg
Diarrhea, Inflammatory abnormality of the skin ORPHA:79332
Blue Diaper Syndrome
Diarrhea ORPHA:94086
Dyskeratosis Congenita, Autosomal Dominant 2
Chronic diarrhea, Esophageal stricture, Oral leukoplakia OMIM:613989
Lujo Hemorrhagic Fever
Myocarditis, Diarrhea, Fulminant hepatitis, Skin rash, Vomiting, Nausea, Abdominal cramps, Rhinit... ORPHA:319213
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst OMIM:611134
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Pancreatitis, Diarrhea, Vomiting, Feeding difficulties, Tubulointerstitial nephritis OMIM:251000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting OMIM:560000
Immunodeficiency 112
Chronic diarrhea, Chronic mucocutaneous candidiasis OMIM:620449
Proboscis Lateralis
Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve... ORPHA:141099
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Panniculitis, Diarrhea, Chronic diarrhea, Skin rash, Abdominal pain OMIM:617099
Avian Influenza
Myelitis, Diarrhea, Abdominal pain, Vomiting, Conjunctivitis, Pneumonia, Hepatitis, Infectious en... ORPHA:454836
Immunodeficiency 59 And Hypoglycemia
Recurrent aphthous stomatitis, Arteritis, Chronic diarrhea, Herpes simplex encephalitis, High pal... OMIM:233600
Meckel Syndrome, Type 10
Micropenis, Hypospadias, Renal cyst OMIM:614175
Encephalopathy, Ethylmalonic
Chronic diarrhea, Feeding difficulties OMIM:602473
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Hypoplastic male external genitalia, Anophthalmia OMIM:605627
Frontometaphyseal Dysplasia 2
Gastroesophageal reflux, High palate, Pyloric stenosis, Cleft palate, Bifid uvula, Cryptorchidism... OMIM:617137
Campomelia, Cumming Type
Aplasia/Hypoplasia affecting the eye, Pancreatic cysts, Multicystic kidney dysplasia, Multiple re... ORPHA:1318
Premature Ovarian Failure 6
Streak ovary, Hypoplasia of the uterus OMIM:612310
Intellectual Developmental Disorder, Autosomal Dominant 57
Intermittent diarrhea, Diarrhea, High palate, Constipation, Feeding difficulties, Otitis media OMIM:618050
Müllerian Aplasia And Hyperandrogenism
Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology ORPHA:247768
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst ORPHA:480536
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Diarrhea, Hepatocellular carcinoma, Vomiting, Nausea, Polycystic ovaries ORPHA:79240
Mosaic Trisomy 9
Microphthalmia, Hypoplastic female external genitalia, Abnormal fallopian tube morphology, Hypopl... ORPHA:99776
Specific Granule Deficiency 2
Intractable diarrhea, Recurrent pneumonia, Recurrent otitis media OMIM:617475
Coach Syndrome 1
Nephronophthisis, Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Multiple... OMIM:216360
Combined Oxidative Phosphorylation Deficiency 11
Renal tubular acidosis, Renal cyst, Renal hypoplasia, Renal dysplasia, Renal insufficiency OMIM:614922
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo... ORPHA:90793
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Chronic diarrhea, Eczematoid dermatitis, Recurrent pneumonia, Aplasia of the thymus, Br... OMIM:242700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Chronic oral candidiasis, Acute otitis media, Rectovaginal fistula, Chronic diarrhea, Skin rash, ... ORPHA:35078
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Diarrhea, Atopic dermatitis, Vomiting ORPHA:3240
Premature Ovarian Failure 18
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619203
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:168558
Meckel Syndrome, Type 6
Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Hepatic cysts, Horseshoe kidney OMIM:612284
Alternating Hemiplegia Of Childhood
Anorexia, Abdominal distention, Abnormality of the gastrointestinal tract, Oral-pharyngeal dyspha... ORPHA:2131
Hereditary Fructose Intolerance
Abdominal distention, Diarrhea, Abdominal pain, Chronic hepatic failure, Vomiting, Nausea, Consti... ORPHA:469
Paroxysmal Cold Hemoglobinuria
Diarrhea, Nausea and vomiting ORPHA:90035
Multiple Endocrine Neoplasia Type 2
Abdominal distention, Aganglionic megacolon, Abnormal tongue morphology, Ganglioneuromatosis, Dia... ORPHA:653
Aicardi-Goutieres Syndrome 7
Hematemesis, Diarrhea, Arthritis, Skin rash, Bloody diarrhea, Chilblains, Atopic dermatitis, Hema... OMIM:615846
Polysyndactyly With Cardiac Malformation
Hepatic cysts, Renal cyst OMIM:263630
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Chronic diarrhea, Hashimoto thyroiditis, Hepatitis, Feeding difficulties... OMIM:613385
Pearson Marrow-Pancreas Syndrome
Anorexia, Steatorrhea, Villous atrophy, Chronic diarrhea, Punctate keratitis, Vomiting, Exocrine ... OMIM:557000
Immunodeficiency 114, Folate-Responsive
Chronic diarrhea, Atopic dermatitis OMIM:620603
Ulbright-Hodes Syndrome
Clitoral hypertrophy, Enlarged labia minora, Polycystic kidney dysplasia, Abnormal external genit... ORPHA:3404
Citrullinemia Type Ii
Diarrhea, Hepatocellular carcinoma, Pancreatitis, Vomiting ORPHA:247585
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in... ORPHA:289548
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Chronic diarrhea, Malabsorption, Erythroderma, Keratoconjunctivitis sicca OMIM:601675
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydr... ORPHA:2473
Congenital Syphilis
Myocarditis, Pancreatitis, Diarrhea, High palate, Synovitis, Rhinitis, Keratitis, Malabsorption, ... ORPHA:499009
Peutz-Jeghers Syndrome
Renal cell carcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cyst... ORPHA:2869
Biotinidase Deficiency
Diarrhea, Seborrheic dermatitis, Skin rash, Vomiting, Conjunctivitis, Recurrent skin infections, ... OMIM:253260
Chronic Graft Versus Host Disease
Anorexia, Fasciitis, Abnormal esophagus physiology, Keratoconjunctivitis sicca, Gastroesophageal ... ORPHA:99921
Cholestasis, Progressive Familial Intrahepatic, 9
Diarrhea OMIM:619849
Caroli Syndrome
Abnormality of the kidney, Polycystic kidney dysplasia ORPHA:480520
Young-Onset Parkinson Disease
Diarrhea, Nausea, Gastroparesis, Constipation ORPHA:2828
Ovarian Dysgenesis 9
Hypoplasia of the ovary, Hypoplasia of the uterus OMIM:619665
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Chronic diarrhea, High palate, Pyloric stenosis, Submucous cleft hard palate, Supernumerary nipple ORPHA:457279
Pediatric-Onset Graves Disease
Diarrhea, Episcleritis, Keratitis, Nausea and vomiting, Goiter ORPHA:525731
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abdominal distention, Recurrent otitis media, Gastroesophageal reflux, Chronic diarrhea, Vomiting... OMIM:620233
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent otitis media, Diarrhea, Anal atresia, Sinusitis, Recurrent infection of ... OMIM:251260
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Relapsing Fever
Diarrhea, Abdominal pain, Vomiting ORPHA:91547
Vipoma
Anorexia, Neoplasm of the pancreas, Increased circulating gonadotropin level, Increased circulati... ORPHA:97282
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Gastroesophageal reflux, Chronic diarrhea, Poor suck, Chronic constipation, Cryptorchidism, Feedi... ORPHA:500055
Hyper-Igd Syndrome
Chronic oral candidiasis, Diarrhea, Chronic diarrhea, Skin rash, Abdominal pain, Arthritis, Lymph... OMIM:260920
Genitopalatocardiac Syndrome
Hypospadias, Male pseudohermaphroditism, Gonadal dysgenesis, male, Cryptorchidism, Multicystic ki... ORPHA:2075
Immunodeficiency 22
Chronic oral candidiasis, Panniculitis, Diarrhea, Pericarditis, Protracted diarrhea OMIM:615758
Femoral-Facial Syndrome
Abnormal renal collecting system morphology, Polycystic kidney dysplasia, Renal agenesis, Cryptor... OMIM:134780
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Renal cyst, Renal hypoplasia, Cryptorchidism, Micropenis OMIM:210710
Developmental And Epileptic Encephalopathy 50
Diarrhea, Dysphagia OMIM:616457
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Diarrhea, Chronic mucocutaneous candidiasis, Chronic hepatic failure, Recurrent aspiration pneumo... ORPHA:79124
Sarcoidosis, Susceptibility To, 1
Anorexia, Enlarged lacrimal glands, Abnormal salivary gland morphology, Arthritis, Inflammation o... OMIM:181000
Acute Radiation Syndrome
Diarrhea, Interstitial pneumonitis, Inflammatory abnormality of the skin, Vomiting ORPHA:454831
Focal Dermal Hypoplasia
Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Clitoral hypopla... OMIM:305600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Diarrhea, Skin rash, Chronic mucocutaneous candidiasis, Recurrent bacte... ORPHA:276
Fabry Disease
Diarrhea, Abdominal pain, Vomiting, Nausea, Tenesmus OMIM:301500
Melas
Hypoparathyroidism, Intestinal pseudo-obstruction, Diarrhea, Recurrent pancreatitis, Constipation... ORPHA:550
Addison Disease
Anorexia, Primary testicular failure, Hypoparathyroidism, Diarrhea, Abdominal pain, Celiac diseas... ORPHA:85138
Hypoplasminogenemia
Duodenal ulcer, Abnormality of the ovary, Cervicitis, Periodontitis ORPHA:722
Agammaglobulinemia 8B, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia OMIM:619824
Satoyoshi Syndrome
Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Diarrhea, Hypoplasia of the thymus OMIM:619313
Joubert Syndrome 2
Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Renal insuffic... OMIM:608091
Mucopolysaccharidosis, Type Iiib
Diarrhea OMIM:252920
Immunodeficiency 91 And Hyperinflammation
Intermittent diarrhea, Recurrent pneumonia, Acute hepatic failure, Membranoproliferative glomerul... OMIM:619644
Mucoepithelial Dysplasia, Hereditary
Melena, Chronic diarrhea, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Furrowed tongu... OMIM:158310
Familial Gestational Hyperthyroidism
Diarrhea, Goiter, Thyroid hyperplasia ORPHA:99819
Omphalocele Syndrome, Shprintzen-Goldberg Type
Anal atresia, Chronic diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux ORPHA:3164
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Clitoral hypertrophy, Enlarged labia minora, Hypospadias, Long penis, Polycystic ... OMIM:268300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Mucopolysaccharidosis, Type Iiia
Diarrhea OMIM:252900
Bronchial Neuroendocrine Tumor
Anorexia, Bowel urgency, Poor appetite, Elevated circulating growth hormone concentration, Pneumo... ORPHA:97287
Phoar2-Enteropathy Syndrome
Seborrheic dermatitis, Secretory diarrhea, Acne OMIM:614441
Waldenström Macroglobulinemia
Anorexia, Gastrointestinal hemorrhage, Diarrhea, Malabsorption ORPHA:33226
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Poor appetite, Decreased testicular size OMIM:201100
Amyloidosis, Hereditary, Transthyretin-Related
Diarrhea, Episodic vomiting, Constipation OMIM:105210
Immunodeficiency 25
Erythroderma, Recurrent pneumonia, Protracted diarrhea OMIM:610163
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Goiter, Thyroid hyperplasia ORPHA:424
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Cryptorchidism, Fetal megacystis, Multicystic kidney dysplasia ORPHA:73246
Dominant Beta-Thalassemia
Hypoparathyroidism, Diarrhea, Hepatocellular carcinoma, Chronic hepatitis, Feeding difficulties, ... ORPHA:231226
Pallister-Hall Syndrome
Microphthalmia, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Decreased t... OMIM:146510
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Gastroesophageal reflux, Diarrhea, Arthritis, Recurrent aspiration pneu... ORPHA:221139
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting ORPHA:263455
Charge Syndrome
Microphthalmia, External genital hypoplasia, Anophthalmia, Labial hypoplasia, Hypoplastic male ex... OMIM:214800
Cystic Echinococcosis
Abnormality of the testis size, Renal cyst, Ovarian cyst, Hepatic cysts, Membranous nephropathy ORPHA:400
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Sclerosing cholangitis, Stomatitis, Diarrhea, Enteroviral encephalitis,... OMIM:308230
Fryns Syndrome
Microphthalmia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cryptorchi... ORPHA:2059
Trichothiodystrophy 5, Nonphotosensitive
Decreased testicular size, Chronic diarrhea, Panhypopituitarism OMIM:300953
Immunodeficiency 9
Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis OMIM:612782
Joubert Syndrome 14
Microphthalmia, Renal cyst OMIM:614424
Cerebrotendinous Xanthomatosis
Diarrhea, Cholelithiasis, Pseudobulbar paralysis OMIM:213700
Cholestasis, Progressive Familial Intrahepatic, 6
Chronic diarrhea OMIM:619484
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Anophthalmia, Septate vagina, Cryptorchidism OMIM:300166
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cryptorchidism, Horseshoe kidney, Renal cyst ORPHA:166035
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Omenn Syndrome
Diarrhea, Pneumonia, Erythroderma, Hypoplasia of the thymus OMIM:603554
Pagod Syndrome
Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o... ORPHA:991
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Prostatitis, Chronic diarrhea, Hepatocellular carcinoma, Entero... OMIM:300755
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Renal cyst, Hydronephrosis, Micropenis, ... ORPHA:261494
Congenital Disorder Of Glycosylation, Type Im
Diarrhea, Inflammatory abnormality of the skin, Vomiting OMIM:610768
3-Methylglutaconic Aciduria Type 7
3-Methylglutaconic aciduria, Nephrocalcinosis, Renal insufficiency, Renal cyst ORPHA:445038
Mosaic Variegated Aneuploidy Syndrome 1
Hypospadias, Multicystic kidney dysplasia, Bifid scrotum, Renal cyst, Nephroblastoma, Ambiguous g... OMIM:257300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Chronic diarrhea, Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurrent pn... OMIM:102700
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Feeding difficulties OMIM:255120
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Axial malrotation of the kidney, Aplasia of the uterus, Horseshoe kidney ORPHA:3320
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot... ORPHA:18
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Abdominal distention, Gastrointestinal inflammation, Keratoconjunctivitis sicca, Oral-p... ORPHA:95455
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis OMIM:610829
Mosaic Trisomy 1
Microphthalmia, Renal cortical cysts, Renal cyst, Penile hypospadias, Micropenis ORPHA:1692
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ovary, Female hypogon... ORPHA:432
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Anophthalmia ORPHA:2526
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Diarrhea, Skin rash, Vomiting, Episodic vomiting OMIM:618321
Harrod Syndrome
Cryptorchidism, Multicystic kidney dysplasia, Hypospadias ORPHA:2115
Wolfram Syndrome
Gastrointestinal hemorrhage, Constipation, Malabsorption, Gastric ulcer, Feeding difficulties in ... ORPHA:3463
Trichohepatoneurodevelopmental Syndrome
Decreased liver function, Steatorrhea, Recurrent otitis media, Gastroesophageal reflux, Cholelith... OMIM:618268
Listeriosis
Myocarditis, Pyelonephritis, Arteritis, Diarrhea, Abdominal pain, Vomiting, Nausea, Pericarditis,... ORPHA:533
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Abdominal distention, Diarrhea, Hepatocellular carcinoma, Reye syndrome-like episodes, Vomiting, ... OMIM:256810
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Absent penis, Hydronephrosis, ... ORPHA:49
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney, Cryptorchidism ORPHA:1106
Perrault Syndrome 4
Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus OMIM:615300
Mucopolysaccharidosis, Type Iiid
Recurrent otitis media, Tube feeding, Diarrhea, Dysphagia, Macroglossia OMIM:252940
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Chronic diarrhea, Dysphagia, Feeding difficulties OMIM:620358
Glycogen Storage Disease Ia
Intermittent diarrhea, Pancreatitis, Hepatocellular carcinoma, Gout, Protuberant abdomen OMIM:232200
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla... OMIM:202010
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g... OMIM:271520
Gaisböck Syndrome
Peptic ulcer, Cholecystitis, Gout ORPHA:90041
Zellweger Syndrome
Clitoral hypertrophy, Hypospadias, Hydronephrosis, Cryptorchidism, Multicystic kidney dysplasia ORPHA:912
Fanconi Anemia, Complementation Group L
Microphthalmia, Unilateral renal agenesis, Aplasia of the uterus, Renal hypoplasia, Micropenis OMIM:614083
Familial Hypoaldosteronism
Diarrhea, Nausea and vomiting, Feeding difficulties ORPHA:427
Fructose-1,6-Bisphosphatase Deficiency
Diarrhea, Reye syndrome-like episodes, Vomiting ORPHA:348
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Diarrhea, Acute hepatic failure, Feeding difficulties in infancy, Vomiting ORPHA:71212
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Chronic diarrhea, Vomiting, Chronic hepatitis, Bifid uvula, Cleft palate,... OMIM:614921
Diaphanospondylodysostosis
Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia OMIM:608022
Mevalonic Aciduria
Diarrhea, Morbilliform rash, Skin rash, Vomiting OMIM:610377
Neuroblastoma, Susceptibility To, 1
Diarrhea, Abdominal pain OMIM:256700
Omenn Syndrome
Pneumonia, Chronic diarrhea, Thyroiditis, Erythroderma ORPHA:39041
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Ectodermal Dysplasia-Skin Fragility Syndrome
Cheilitis, Anoperineal fistula, Abnormal tongue morphology, Chronic diarrhea, Recurrent pneumonia... ORPHA:158668
Serotonin Syndrome
Diarrhea, Nausea, Hepatic failure ORPHA:43116
Sandhoff Disease
Chronic diarrhea, Macroglossia, Episodic abdominal pain OMIM:268800
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Alg9-Cdg
Gastroesophageal reflux, Diarrhea, Hypoplasia of the ovary, Hypoplastic nipples, Vomiting, Bifid ... ORPHA:79328
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Renal agenesis, Increased urine alpha-ketoglutarate concentration, Cystic renal dysplasia OMIM:220500
Genitopatellar Syndrome
Clitoral hypertrophy, Hydronephrosis, Small scrotum, Cryptorchidism, Multicystic kidney dysplasia ORPHA:85201
Kawasaki Disease
Myocarditis, Cheilitis, Glossitis, Abdominal pain, Diarrhea, Skin rash, Arthritis, Pericarditis, ... ORPHA:2331
Beta-Thalassemia Major
Hypoparathyroidism, Diarrhea, Hepatocellular carcinoma, Feeding difficulties, Hypopituitarism ORPHA:231214
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism OMIM:616300
Imerslund-Grasbeck Syndrome 2
Diarrhea OMIM:618882
Beta-Ketothiolase Deficiency
Anorexia, Diarrhea, Vomiting ORPHA:134
Marburg Hemorrhagic Fever
Anorexia, Abnormality of the gastrointestinal tract, Pancreatitis, Diarrhea, Abdominal pain, Skin... ORPHA:99826
Dubowitz Syndrome
Rectal prolapse, Anal stenosis, Hypoparathyroidism, Chronic diarrhea, High palate, Eczematoid der... ORPHA:235
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia, Female hypogonadism, Renal hypoplasia, Small scrotum, Cryptorchidism OMIM:607932
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypoplastic male external genitalia, Vesi... OMIM:122470
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas... ORPHA:90796
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Seborrheic dermatitis, Secretory diarrhea, Acne OMIM:167100
Estrogen Resistance
Polycystic ovaries, Hypoplasia of the uterus OMIM:615363
Ectodermal Dysplasia And Immunodeficiency 2
Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Aplasia of the sweat glands OMIM:612132
Nabais Sa-De Vries Syndrome, Type 2
Multicystic kidney dysplasia OMIM:618829
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Cryptorchidism, Hydroureter, Multicystic kidney dysplasia ORPHA:2241
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia OMIM:619980
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Renal cyst ORPHA:79303
Fryns Syndrome
Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ... OMIM:229850
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Arthritis, Gastric ulcer OMIM:161700
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatic cysts, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Melena, Acute tubulointerstitial nephritis, Diarrhea, Abdominal pain, Vomiting, Naus... ORPHA:340
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis, Buphth... OMIM:618460
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Renal cyst, Renal agenesis, Cryptorchidism OMIM:113620
3-Hydroxy-3-Methylglutaric Aciduria
Anorexia, Episodic vomiting, Diarrhea, Reye syndrome-like episodes, Acute pancreatitis ORPHA:20
Mody
Glycosuria, Abnormality of the kidney, Nephropathy, Renal cyst ORPHA:552
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis, Small scrotum,... OMIM:618454
Von Hippel-Lindau Syndrome
Renal cell carcinoma, Papillary cystadenoma of the epididymis, Multiple renal cysts, Epididymal c... OMIM:193300
Meckel Syndrome, Type 3
Multicystic kidney dysplasia OMIM:607361
2P15P16.1 Microdeletion Syndrome
Optic nerve hypoplasia, Decreased testicular size, Hydronephrosis, Hypogonadism, Multicystic kidn... ORPHA:261349
Dubowitz Syndrome
Gastroesophageal reflux, Episodic vomiting, Chronic diarrhea, High palate, Eczematoid dermatitis,... OMIM:223370
Peroxisome Biogenesis Disorder 4A (Zellweger)
Renal cyst OMIM:614862
Deeah Syndrome
Narrow palate, Decreased response to growth hormone stimulation test, Chronic diarrhea, Anterior ... OMIM:619004
Transcobalamin Ii Deficiency
Diarrhea, Vomiting OMIM:275350
Attenuated Familial Adenomatous Polyposis
Uterine leiomyoma, Multiple renal cysts ORPHA:220460
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Optic nerve hypoplasia, Hypoplastic labia minora, Absent sc... ORPHA:495875
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long... ORPHA:90794
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Diarrhea, Episodic vomiting OMIM:246450
Amed Syndrome, Digenic
Hypoplasia of the uterus OMIM:619151
Colchicine Poisoning
Diarrhea, Nausea, Myocarditis, Vomiting ORPHA:31824
Lysinuric Protein Intolerance
Steatorrhea, Decreased response to growth hormone stimulation test, Pancreatitis, Diarrhea, Vomit... ORPHA:470
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Rhinitis, Vomiting ORPHA:230
Bardet-Biedl Syndrome
Aganglionic megacolon, Abnormality of the gastrointestinal tract, Hypoplasia of the ovary, High p... ORPHA:110
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Abnormality of the ... ORPHA:79404
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Riddle Syndrome
Diarrhea, Abdominal pain, Arthritis, Recurrent sinusitis, Recurrent pneumonia, Otitis media, Pneu... ORPHA:420741
Rothmund-Thomson Syndrome Type 2
Diarrhea, Functional abnormality of the gastrointestinal tract, High palate, Vomiting, Cleft pala... ORPHA:221016
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina ORPHA:457284
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Congenital megaureter, Hypercalciuria, Renal cyst, Precocious puberty, Nephrocalcinosis, Renal dy... ORPHA:369837
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Chronic diarrhea, Otitis media, Aplasia of the thymus OMIM:602450
Abetalipoproteinemia
Steatorrhea, Chronic diarrhea, Vomiting, Fat malabsorption, Keratoconjunctivitis sicca ORPHA:14
Nijmegen Breakage Syndrome
Anal stenosis, Anorectal anomaly, Chronic diarrhea, Anal atresia, Cleft palate, Recurrent pneumonia ORPHA:647
Rothmund-Thomson Syndrome Type 1
Diarrhea, Functional abnormality of the gastrointestinal tract, Vomiting, Nasogastric tube feedin... ORPHA:221008
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Intestinal pseudo-obstruction, Oral-pharyn... ORPHA:273
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Cryptorchidism... ORPHA:464311
Histiocytoid Cardiomyopathy
Polycystic ovaries, Microphthalmia, Congenital aphakia, Renal cyst ORPHA:137675
Japanese Encephalitis
Anorexia, Diarrhea, Abdominal pain, Vomiting, Infectious encephalitis ORPHA:79139
Trichohepatoenteric Syndrome 1
Villous atrophy, Intractable diarrhea, Bifid uvula, Hepatic failure OMIM:222470
Meckel Syndrome, Type 7
Pancreatic cysts, Stage 5 chronic kidney disease, Multicystic kidney dysplasia, Multiple glomerul... OMIM:267010
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Intermittent diarrhea, Anterior pituitary agenesis, Pancreatic hypoplasia, Pancreatic aplasia, In... ORPHA:2255
Immunodeficiency 55
Diarrhea, Recurrent skin infections, Eczematoid dermatitis OMIM:617827
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Erythroderma, Chronic diarrhea ORPHA:169154
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Chronic diarrhea, Cryptorchidism, High palate, Chronic constipation OMIM:619005
Lysinuric Protein Intolerance
Pancreatitis, Protein avoidance, Diarrhea, Vomiting, Nausea, Malnutrition OMIM:222700
Crimean-Congo Hemorrhagic Fever
Hematemesis, Anorexia, Morbilliform rash, Myocarditis, Melena, Diarrhea, Abdominal pain, Parotiti... ORPHA:99827
Turner Syndrome Due To Structural X Chromosome Anomalies
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99413
Mosaic Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99228
Monosomy X
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:99226
Turner Syndrome
Gastrointestinal inflammation, High, narrow palate, Recurrent otitis media, Thyroiditis, High pal... ORPHA:881
Leukocyte Adhesion Deficiency Type Ii
Narrow palate, Recurrent otitis media, Severe periodontitis, Chronic diarrhea, Protruding tongue,... ORPHA:99843
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Liver Disease, Severe Congenital
Abdominal distention, Pneumonia, Protein-losing enteropathy, Recurrent otitis media, Diarrhea, Ch... OMIM:619991
Smith-Lemli-Opitz Syndrome
Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicated collecting system, Bi... OMIM:270400
Acute Adrenal Insufficiency
Anorexia, Diarrhea, Abdominal pain, Constipation, Nausea and vomiting ORPHA:95409
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Cryptorchidism... ORPHA:464306
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Ovotestis, Chordee, ... OMIM:309801
Focal Dermal Hypoplasia
Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of the iris, Hydronephrosis, Multicystic kid... ORPHA:2092
Radio-Renal Syndrome
Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia ORPHA:3015
Immunodeficiency 36 With Lymphoproliferation
Bronchiectasis, Chronic diarrhea OMIM:616005
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Renal cyst, Nephritis, Proteinuria, Chronic kidney disease, Renal insufficiency OMIM:208500
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Horseshoe kidney, Renal cyst OMIM:250410
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Renal cyst OMIM:615560
Tuberous Sclerosis 2
Renal cell carcinoma, Renal cyst, Precocious puberty, Renal angiomyolipoma, Absence of renal cort... OMIM:613254
Townes-Brocks Syndrome
Abnormality of the kidney, Microphthalmia, Ectopic kidney, Hypospadias, Hypoplasia of penis, Abno... ORPHA:857
Chikungunya
Diarrhea, Arthritis, Skin rash, Synovitis, Vomiting, Enthesitis, Infectious encephalitis, Erythem... ORPHA:324625
Tuberous Sclerosis 1
Precocious puberty, Renal cell carcinoma, Renal angiomyolipoma, Renal cyst OMIM:191100
Estrogen Resistance Syndrome
Hypoplasia of the uterus, Enlarged polycystic ovaries ORPHA:785
Spondyloocular Syndrome
Duodenal ulcer, Unilateral cryptorchidism OMIM:605822
Yellow Fever
Hematemesis, Diarrhea, Abdominal pain, Skin rash, Acute pancreatitis, Vomiting, Nausea, Pancreati... ORPHA:99829
Transketolase Deficiency
Renal cyst, Increased level of ribose in urine ORPHA:488618
Williams Syndrome
Peptic ulcer, Chronic otitis media, Rectal prolapse, Gastroesophageal reflux, Cholelithiasis, Abd... ORPHA:904
Zttk Syndrome
Intestinal atresia, Chronic diarrhea, High palate, Bifid uvula, Feeding difficulties, Absent gall... OMIM:617140
2Q37 Microdeletion Syndrome
Nephroblastoma, Multicystic kidney dysplasia ORPHA:1001
Mucopolysaccharidosis Type 3
Chronic otitis media, Intermittent diarrhea, Aspiration pneumonia, Constipation, Malabsorption, D... ORPHA:581
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Diarrhea OMIM:235400
Hurler Syndrome
Chronic diarrhea, Rhinitis, Macroglossia, Feeding difficulties ORPHA:93473
Craniofacial Microsomia 1
Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi... OMIM:164210
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Abnormal morphology of female internal genitalia, Multiple renal cysts... ORPHA:538
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Poor appetite, Gastrointestinal hemorrhage, Diarrhea ORPHA:247598
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism OMIM:616975
Pontocerebellar Hypoplasia Type 7
Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro... ORPHA:284339
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Protracted diarrhea, Lymphadenitis ORPHA:331206
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Vaginal neoplasm, Nephroblastoma, Ambiguous genitalia, Multicystic kidney dysplasia ORPHA:1052
Peroxisome Biogenesis Disorder 1B
Hyperoxaluria, Renal cyst OMIM:601539
Immunodeficiency 96
Multicystic kidney dysplasia OMIM:619774
Farber Disease
Chronic diarrhea, Feeding difficulties, Arthritis, Hepatic failure ORPHA:333
Pearson Syndrome
Steatorrhea, Decreased response to growth hormone stimulation test, Hypoparathyroidism, Chronic d... ORPHA:699
Joubert Syndrome 1
Nephropathy, Renal cyst OMIM:213300
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Renal malrotation, Hypoplasia of the uterus OMIM:615866
Acute Liver Failure
Gastrointestinal hemorrhage, Diarrhea, Skin rash, Vomiting, Nausea, Hepatitis ORPHA:90062
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Renal cyst, Reduced renal corticomed... OMIM:266920
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Renal dysplasia, Renal cyst OMIM:617260
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Aplasia of the uterus, Axial malr... OMIM:274000
Microphthalmia, Syndromic 1
Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasi... OMIM:309800
Cardiac-Urogenital Syndrome
Enlarged kidney, Penoscrotal hypospadias, Aplasia of the uterus, Bifid scrotum, Unilateral crypto... OMIM:618280
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Microphthalmia, Hematuria, Azoospermia, Hyperca... ORPHA:534
Rothmund-Thomson Syndrome
Diarrhea, Malar rash, Skin rash, Vomiting, Nasogastric tube feeding in infancy ORPHA:2909
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Aplasia/Hypopla... ORPHA:818
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Hypoplasia of the uterus OMIM:110100
Gitelman Syndrome
Neoplasm of the pancreas, Diarrhea, Abdominal pain, Constipation, Hashimoto thyroiditis, Parathyr... ORPHA:358
Alveolar Echinococcosis
Hepatic cysts, Abnormal bladder morphology, Pancreatic cysts, Renal cyst ORPHA:284
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Gastroesophageal refl... OMIM:615873
Occipital Horn Syndrome
Chronic diarrhea, High palate, Hiatus hernia OMIM:304150
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Joubert Syndrome With Hepatic Defect
Nephropathy, Multicystic kidney dysplasia, Renal insufficiency ORPHA:1454
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia ORPHA:261197
Mowat-Wilson Syndrome
Aganglionic megacolon, Cleft hard palate, Recurrent otitis media, Bowel incontinence, Vomiting, E... ORPHA:2152
Neuroblastoma
Abdominal distention, Chronic diarrhea ORPHA:635
Kaposiform Lymphangiomatosis
Enlarged kidney, Pancreatic cysts, Multiple renal cysts ORPHA:464329
Townes-Brocks Syndrome 1
Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec... OMIM:107480
Lipodystrophy, Familial Partial, Type 7
Diarrhea, Vomiting, Dysphagia, Feeding difficulties, Recurrent pancreatitis OMIM:606721
Robinow Syndrome
External genital hypoplasia, Multicystic kidney dysplasia, Clitoral hypoplasia, Hydronephrosis, W... ORPHA:97360
Myoectodermal Gonadal Dysgenesis Syndrome
Gonadal dysgenesis, Unilateral renal agenesis, Clitoral hypoplasia, Hypoplasia of the uterus, Hyp... OMIM:618419
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Atelosteogenesis Type I
Multiple renal cysts ORPHA:1190
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Renal cyst OMIM:617478
Hydrolethalus Syndrome 1
Microphthalmia, Hypospadias, Abnormal vagina morphology, Bifid uterus, Hydronephrosis OMIM:236680
Viss Syndrome
Chronic diarrhea, Intestinal malrotation, Malposition of the stomach, Bifid uvula, Dysphagia, Chr... OMIM:619472
Leptospirosis
Anorexia, Diarrhea, Abdominal pain, Optic neuritis, Skin rash, Pericarditis, Nausea and vomiting,... ORPHA:509
Okamoto Syndrome
Urinary incontinence, Abnormally large globe, Ureteropelvic junction obstruction, Hydronephrosis,... ORPHA:2729
Bartter Syndrome, Type 1, Antenatal
Diarrhea, Hyperparathyroidism, Vomiting, Constipation OMIM:601678
Schinzel-Giedion Syndrome
Hypospadias, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydronephrosis, Nephroblasto... ORPHA:798
Short-Rib Thoracic Dysplasia 12
Renal hypoplasia, Ambiguous genitalia, Cystic renal dysplasia OMIM:269860
Diamond-Blackfan Anemia 21
Chronic diarrhea OMIM:620072
Woodhouse-Sakati Syndrome
Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr... OMIM:241080
D-Bifunctional Protein Deficiency
Renal cyst OMIM:261515
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Neoplasm of the stomach, Acne, Diarrhea, Pheochromocytoma, Small intestine carcinoid, A... ORPHA:99889
Scorpion Envenomation
Myocarditis, Diarrhea, Abdominal pain, Acute pancreatitis, Vomiting ORPHA:466677
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia OMIM:200995
Coffin-Siris Syndrome 1
Duodenal ulcer, High palate, Intestinal malrotation, Cleft palate, Intussusception, Cryptorchidis... OMIM:135900
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:609441
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Renal cell carcinoma, Papillary cystadenoma of the epididym... ORPHA:892
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Uterus didelphys, Renal hypoplasia, Urethrovaginal fistula, Hydr... ORPHA:93271
Autosomal Recessive Robinow Syndrome
Hypoplastic female external genitalia, Hypoplasia of penis, Hydronephrosis, Cryptorchidism, Multi... ORPHA:1507
1P36 Deletion Syndrome
Abnormality of the kidney, Abnormal female external genitalia morphology, Hypospadias, Hypoplasia... ORPHA:1606
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Diarrhea, Feeding difficulties OMIM:618278
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Abnormal spermatogenesis, Hypoplasia of the fallopian tube, Decreased t... ORPHA:3464
Ataxia-Telangiectasia
Sinusitis, Chronic diarrhea, Hypoplasia of the thymus, Bronchiectasis OMIM:208900
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Abnormal reproductive system morphology ORPHA:1521
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Hydronephrosis, Nephroblasto... ORPHA:373
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesicoureteral refl... ORPHA:116
Trisomy 10P
Abnormality of the kidney, Multiple renal cysts, Rectovaginal fistula ORPHA:171929
African Trypanosomiasis
Myocarditis, Iritis, Myelitis, Diarrhea, Optic neuritis, Abnormal prolactin level, Vomiting, Naus... ORPHA:3385
Proximal Renal Tubular Acidosis
Diarrhea, Malabsorption, Vomiting ORPHA:47159
Alagille Syndrome 1
Duplicated collecting system, Renal tubular acidosis, Vesicoureteral reflux, Renal artery stenosi... OMIM:118450
Distal Deletion 15Q
Hypospadias, Multicystic kidney dysplasia, Abnormal localization of kidney, Cryptorchidism, Micro... ORPHA:1596
Immunodeficiency 47
Chronic diarrhea, Exocrine pancreatic insufficiency OMIM:300972
Neu-Laxova Syndrome 1
Renal agenesis, Microphthalmia, Bifid uterus, Cryptorchidism OMIM:256520
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Hydronephrosis, Proteinuria, Pancreatic cysts ORPHA:2750
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl... OMIM:201750
Bartter Syndrome, Type 2, Antenatal
Diarrhea, Vomiting, Constipation OMIM:241200
Cranioectodermal Dysplasia 2
Renal insufficiency, Renal cyst OMIM:613610
Nmda Receptor Encephalitis
Diarrhea, Testicular teratoma, Ovarian teratoma, Vomiting ORPHA:217253
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Gastroesophageal reflux, Chronic diarrhea, Bifid uvula, Cleft palate, Dysphagia, S... ORPHA:500150
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Hypoplasia of the uterus, Clitoral h... ORPHA:709
Aspartylglucosaminuria
Diarrhea, Macroglossia, Macroorchidism, Acne OMIM:208400
Cerebrocostomandibular Syndrome
Horseshoe kidney, Ectopic kidney, Renal cyst OMIM:117650
Cutis Marmorata Telangiectatica Congenita
Displacement of the urethral meatus, Multicystic kidney dysplasia ORPHA:1556
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Cryptorchidism ORPHA:2308
Proteus Syndrome
Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Enlarged polycystic ovaries, ... ORPHA:744
C Syndrome
Renal hypoplasia/aplasia, Female pseudohermaphroditism, Cryptorchidism, Multicystic kidney dyspla... ORPHA:1308
Hajdu-Cheney Syndrome
Hypospadias, Multiple renal cysts ORPHA:955
Wolf-Hirschhorn Syndrome
Hypospadias, Aplasia of the uterus, Precocious puberty, Rieger anomaly, Cryptorchidism OMIM:194190
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Multicystic kidney dysplasia, Labial hypoplasia, Hyd... OMIM:606170
Spondylocarpotarsal Synostosis Syndrome
Renal cyst OMIM:272460
Mucopolysaccharidosis Type 2, Severe Form
Chronic diarrhea, Macroglossia, Arthritis ORPHA:217085
Cerebrotendinous Xanthomatosis
Chronic diarrhea, Cholelithiasis ORPHA:909
Mucopolysaccharidosis Type 2
Chronic diarrhea, Macroglossia, Hip osteoarthritis ORPHA:580
Mucopolysaccharidosis Type 2, Attenuated Form
Chronic diarrhea, Macroglossia, Arthritis ORPHA:217093
Osteopathia Striata With Cranial Sclerosis
Multicystic kidney dysplasia OMIM:300373
Tetrasomy 9P
Recurrent urinary tract infections, Oligozoospermia, Hydronephrosis, Multiple renal cysts, Renal ... ORPHA:3310
Cornelia De Lange Syndrome
Hypospadias, Multicystic kidney dysplasia, Hypoplasia of penis, Vesicoureteral reflux, Abnormalit... ORPHA:199
Norrie Disease
Microphthalmia, Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine r... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Decreased testicular size, Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture OMIM:130050
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia ORPHA:1393
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hypospadias, Renal cyst, Hydronephrosis, Nephroblastoma, Duplication of renal pe... OMIM:312870
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V... ORPHA:261537
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Small scrotum, Cryptorchidism OMIM:276820
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Polycystic ovaries, Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism ORPHA:572333
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V... ORPHA:261552
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Clitoral hypoplasia, Renal hypoplasia, Hydronephrosis, Hypopla... OMIM:261540
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Small scrotum, Labial hypoplasia, Aplasia of the uterus... OMIM:601803
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ... ORPHA:286
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Hypospadias, Renal agenesis, Renal dysplasia, Cryptorchidism, Multicys... OMIM:308205
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Pmm2-Cdg
Abnormal renal tubule morphology, Nephrotic syndrome, Decreased testicular size, Proteinuria, Mul... ORPHA:79318

Histopathology

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

There is no histopathology data for Gpa33

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gpa33.

No publications found that use IMPC mice or data for Gpa33.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Gpa33tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Gpa33tm2b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Gpa33tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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