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Gene: Slc9a3 MGI:105064

Gene Summary

Name:

solute carrier family 9 (sodium/hydrogen exchanger), member 3

Synonyms:

NHE3, 9030624O13Rik, NHE-3

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased prepulse inhibition		Slc9a3^{tm1b(NCOM)Mfgc}	HET		Early adult	3.47×10^-05

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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 Whole Body Dorso Ventral

10 Images

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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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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Eye Morphology

Images Slit Lamp

3 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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X-ray

XRay Images Hind Leg and Hip

2 Images

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Human diseases caused by Slc9a3 mutations

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

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

Human diseases associated with Slc9a3 (2 diseases)
Human diseases predicted to be associated with Slc9a3 (953 diseases)

The table below shows human diseases associated to Slc9a3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Diarrhea 8, Secretory Sodium, Congenital		Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El...	OMIM:616868
Cystic Fibrosis		Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesoph...	ORPHA:586

The table below shows human diseases predicted to be associated to Slc9a3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Dehydration, Metabolic acidosis, H...	OMIM:264350
Lactose Intolerance, Adult Type	Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,...	OMIM:223100
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Malabsorption, Abdominal pain, Chronic kidney disease, Ch...	ORPHA:85445
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Hyperinsulinemia, Generalized aminoaciduria, Renal tub...	OMIM:606528
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Dehydration, Feeding difficulties, Metabolic acidosis, Hyperactive renin-angiotensin sy...	OMIM:177735
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Nephrolithiasis, Malabsorption	OMIM:222900
Lactase Deficiency, Congenital	Lactose intolerance, Decreased small intestinal mucosa lactase level, Diarrhea, Dehydration, Meta...	OMIM:223000
Familial Hypoaldosteronism	Nausea and vomiting, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Di...	ORPHA:427
5-Oxoprolinase Deficiency	Abdominal pain, Calcium oxalate nephrolithiasis, Diarrhea, Enterocolitis, Increased level of L-py...	OMIM:260005
Diarrhea 1, Secretory Chloride, Congenital	Polyhydramnios, Metabolic alkalosis, Elevated serum bicarbonate concentration, Abdominal distenti...	OMIM:214700
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Renal Tubular Acidosis, Proximal	Hyperchloremic acidosis, Renal tubular acidosis, Proximal renal tubular acidosis	OMIM:179830
Coproporphyria, Hereditary	Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal coproporphyrin 3, Tach...	OMIM:121300
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Dysmenorrhea, Diarrhea, Esophageal varix, Hepatocellular adenoma, Irregular...	ORPHA:264580
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hyperparathyroidism, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis, Vomiting	OMIM:239199
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Increased serum lactate, Cryptorchidism, Proximal renal tubular acidosis, Lactic acidosis, Metabo...	OMIM:615824
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasting renal tubular acidosis, P...	OMIM:604278
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Nephrolithiasis, Abnormal circulating renin,...	ORPHA:369929
Enteric Anendocrinosis	Portal hypertension, Malabsorption, Diarrhea, Dehydration, Vomiting, Type I diabetes mellitus, Hy...	ORPHA:83620
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insens...	ORPHA:251274
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia, female, Dehydratio...	ORPHA:90791
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldo...	ORPHA:404
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Abnormal external genitalia, Dehydration, Feeding difficulties, Abnormal...	ORPHA:556030
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Increased serum lactate, Feeding difficulties in infancy, Chronic kidney disease, Renal tubular a...	ORPHA:324525
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Dehydration, Metabolic acidosis, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Dehydration, Nephrocalcinosis, Metabolic acidosis, Vomiting, Distal renal tubular...	OMIM:602722
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Anorexia, Renal salt wasting, Vomiting, Leydig cell neoplas...	ORPHA:361
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Diarrhea, Feeding difficulties, Renal tubular acidosis, Transient hyperlip...	OMIM:255120
Hypokalemic Tubulopathy And Deafness	Acidosis, Increased circulating renin level, Hyperaldosteronism, Renal salt wasting	OMIM:619406
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-insensitive primary h...	ORPHA:231625
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Hypokalemic metabolic alkalos...	OMIM:607364
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Edema, Diarrhea, Angioedema, Neuromuscular dysphag...	ORPHA:449285
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Abnormal external genitalia, Abnormal circulating corticosterone level, ...	ORPHA:556037
Angioedema, Hereditary, 8	Edema of the dorsum of hands, Facial edema, Abdominal pain, Diarrhea, Laryngeal edema, Angioedema...	OMIM:619367
Ectopic Aldosterone-Producing Tumor	Epistaxis, Metabolic alkalosis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian ne...	ORPHA:231632
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Metabolic acidosis, Hypertension, Hyperaldosteroni...	OMIM:613677
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Dysmenorrhea, Diarrhea, Irregular menstruation, Hepatocellular adenoma, Pol...	ORPHA:79240
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Adenocarcinoma of the colon, Abdominal colic, Functional intestinal obst...	ORPHA:100079
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Dehydration, Metabolic acidosis, Hyperaldosteronism, Vomiting, Increased circulating renin level	OMIM:620126
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas...	OMIM:146255
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete	Renal salt wasting, Adrenocorticotropic hormone excess, Sex reversal, Hyperaldosteronism, Adrenal...	OMIM:613743
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Hereditary Amyloidosis With Primary Renal Involvement	Intestinal perforation, Tubulointerstitial nephritis, Gastroesophageal reflux, Vomiting, Nephropa...	ORPHA:85450
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Hydroxykynureninuria	Tachycardia, Metabolic acidosis, Renal tubular acidosis, Hypotension, Stomatitis	ORPHA:79155
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp...	OMIM:103900
Fanconi-Bickel Syndrome	Hyperphosphaturia, Diabetes mellitus, Hypertriglyceridemia, Hepatocellular carcinoma, Abdominal d...	ORPHA:2088
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Malnutrition, Dehydration, Protracted diarrhea, Abnormal intestine morphology	OMIM:251850
Say Syndrome	Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia	OMIM:181180
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Feeding difficulties in infancy, Cryptorchidism...	ORPHA:3282
Carnitine Palmitoyl Transferase 1A Deficiency	Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Transient hyperlipidemia, Hypertrophic ...	ORPHA:156
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Dehydration, Sex re...	ORPHA:168558
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack...	ORPHA:100082
Kearns-Sayre Syndrome	Hypoparathyroidism, Diabetes mellitus, Primary adrenal insufficiency, Lactic acidosis, Renal tubu...	OMIM:530000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Secondary Intestinal Lymphangiectasia	Edema, Lymphedema, Intestinal bleeding, Vomiting, Hypocholesterolemia, Constrictive pericarditis,...	ORPHA:90363
Glucose/Galactose Malabsorption	Malabsorption, Abdominal distention, Chronic diarrhea, Hyperactive bowel sounds, Hypertonic dehyd...	OMIM:606824
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Polyhydramnios, Increased serum lactate, Renal hypoplasia, Renal cyst, Feedi...	OMIM:614922
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Metabolic alkalosis, Glucocortocoid-...	ORPHA:231580
Diarrhea 8, Secretory Sodium, Congenital	Polyhydramnios, Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, El...	OMIM:616868
Isochromosomy Yp	Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test...	ORPHA:98797
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting,...	OMIM:615863
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Nephrolithiasis	OMIM:267300
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Tubulointers...	ORPHA:358
Ileal Neuroendocrine Tumor	Edema, Zollinger-Ellison syndrome, Nausea, Intestinal fistula, Functional intestinal obstruction,...	ORPHA:100078
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Anorexia, Right ventricular failure, Bowel urgency, Abdominal pain, Lack...	ORPHA:100080
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Anorexia, Metabolic acidosis, Nephrocalcinosis, Distal renal tubular acidosis, Hyper...	OMIM:611590
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Malabsorption, Diarrhea, Bicarbonaturia, Bicarbonate-wasting renal tubular aci...	ORPHA:47159
Microvillus Inclusion Disease	Villous atrophy, Abdominal distention, Diarrhea, Hypovolemia, Dehydration, Nephrocalcinosis, Meta...	ORPHA:2290
Addison Disease	Decreased circulating cortisol level, Adrenal calcification, Anorexia, Decreased urinary potassiu...	ORPHA:85138
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Neuroendocrine Tumor Of Stomach	Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Zollinger-Ellison syndrome, Atypi...	ORPHA:100075
Generalized Pseudohypoaldosteronism Type 1	Feeding difficulties in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Dehydrati...	ORPHA:171876
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Polyhydramnios, Renal salt wasting, Dehydration, Nephrocalcinosis, Vomiting,...	OMIM:601678
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Pyruvate Carboxylase Deficiency	Increased serum lactate, Lactic acidosis, Proximal renal tubular acidosis	OMIM:266150
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Metabolic ketoacidosis, Diarrhea, Hyperinsulinemia, Hyperhidrosis, Rena...	ORPHA:263455
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Pulmonary edema, Abdominal pain, Myocarditis, Diarrhea, Oligur...	ORPHA:188
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Attrv30M Amyloidosis	Diarrhea, Atrioventricular block, Cardiomyopathy, Impotence, Constipation, Nephropathy, Arrhythmi...	ORPHA:85447
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet...	ORPHA:2198
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:613404
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Vici Syndrome	Feeding difficulties in infancy, Ureteral atresia, Feeding difficulties, Renal tubular acidosis, ...	ORPHA:1493
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Combined Malonic And Methylmalonic Aciduria	Ketoacidosis, Diarrhea, Methylmalonic aciduria, Dehydration, Vomiting	OMIM:614265
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Feeding di...	OMIM:248250
Corticosterone Methyloxidase Type I Deficiency	Renal salt wasting, Feeding difficulties in infancy, Dehydration, Vomiting, Increased circulating...	OMIM:203400
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Cholera	Tachycardia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Acidosis, Diarrhea, De...	ORPHA:173
Bartter Syndrome Type 4	Hypokalemic metabolic alkalosis, Polyhydramnios, Renal salt wasting, Increased urinary potassium,...	ORPHA:89938
Pearson Marrow-Pancreas Syndrome	Villous atrophy, Pancreatic fibrosis, Anorexia, Malabsorption, Chronic diarrhea, Hypercalciuria, ...	OMIM:557000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Renal insufficiency, Hypokalemic hypochloremic metabolic alkalosis, Polyuria, E...	OMIM:613090
East Syndrome	Renal salt wasting, Metabolic alkalosis, Renal magnesium wasting, Enuresis, Hyperaldosteronism, I...	ORPHA:199343
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Hypospadias, Increased serum lactate, Lactic acidosis, Renal tubular acidosis, Gastroesophageal r...	OMIM:615471
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Malabsorpti...	OMIM:600955
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemic metabolic alkalosis, Polyuria, Renal salt wasting, Elevated serum bicarbonate concent...	OMIM:612780
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con...	ORPHA:209964
Acute Adrenal Insufficiency	Decreased circulating cortisol level, Myocardial infarction, Decreased urinary potassium, Renal s...	ORPHA:95409
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Necrotizing Enterocolitis	Shock, Edema, Increased serum lactate, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrh...	ORPHA:391673
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephrogenic diabetes insipidus, Dehydration, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:208085
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Gastritis, Atrial fibrillation, N...	ORPHA:31826
Intestinal Dysmotility Syndrome	Projectile vomiting, Polyhydramnios, Abdominal distention, Diarrhea, Decreased intestinal transit...	OMIM:620045
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Renal salt wasting, Dehydration, Vomiting, Acidosis, Abdominal pain, Hypov...	ORPHA:275761
Hirschsprung Disease	Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin...	ORPHA:388
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Poor appetite, Nausea, Heart block, Diarrhea, Capillary leak, Pleural effusion, Redu...	ORPHA:542323
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Paralytic ileus, Nephroc...	OMIM:276700
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Hyperchloremic metabolic acidosis, Vomiting, Dehydration	OMIM:610370
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Increased serum lactate, Lactic acidosis, Renal tubular dysfuncti...	OMIM:220110
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemic metabolic alkalosis, Polyuria, Polyhydramnios, Renal salt wasting, ...	OMIM:241200
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Abdominal pain, Diarrhea, Dilated cardiomyopathy, ...	OMIM:248360
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Global glomerulosclerosis, Hypokalemic hypochloremic metabolic alkalosis, Renal...	OMIM:602522
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Polyhydramni...	OMIM:155310
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis...	OMIM:613457
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Bowel incontinence, Conges...	ORPHA:330001
Leigh Syndrome	Increased serum lactate, Ketoacidosis, Gastrointestinal dysmotility, Congestive heart failure, La...	ORPHA:506
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Lactic acidosis, Renal tubular dysfunction, Aminoaciduria, Renal ...	ORPHA:436271
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Pharyngeal edema, Abdominal pain, Abnormal soft palate morphology...	ORPHA:100050
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Metabolic alkalosis, Nephrolithiasis, Hypertension, Second degree atrioventricular block, Primary...	OMIM:615474
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Rabies	Nausea and vomiting, Diarrhea, Sudden cardiac death, Anorexia	ORPHA:770
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Poor appetite, Chronic kidney disease, Abnormal urine potassium...	ORPHA:411634
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Premature ovarian insufficiency...	ORPHA:199299
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Metrorrhagia, Epistaxis, Gastrointestinal angi...	ORPHA:99147
Cocaine Intoxication	Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Bloody diarrhea, Hyperhidro...	ORPHA:90068
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Ulcerative colitis, Bloody diarrhea	OMIM:619398
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Distal renal tubular acidosis, Nephrocalcinosis, Nephrolithiasis	OMIM:179800
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine...	OMIM:171400
Colchicine Poisoning	Renal insufficiency, Abnormality of acid-base homeostasis, Congestive heart failure, Myocarditis,...	ORPHA:31824
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypokalemic metabolic alkalosis, Sudden cardiac death, Pericardial effusion, Abnormal renal tubul...	ORPHA:73224
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hypertriglyceridemia, Adrenal calcification, Diarrhea, Esophageal varix, Hyp...	ORPHA:75234
Prolactinoma	Vomiting, Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypoten...	ORPHA:2965
Cutaneous Mastocytoma	Telangiectasia of the skin, Abdominal pain, Diarrhea, Angioedema, Vomiting, Hypotension, Peau d'o...	ORPHA:79455
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Renal tubular acidosis, Stress/infection-induced lactic acidosis, Organic aciduria, Pancreatitis	ORPHA:431361
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo...	OMIM:301101
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Developmental And Epileptic Encephalopathy 50	Renal tubular acidosis, Diarrhea, Oroticaciduria, Dysphagia	OMIM:616457
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Diarrhea, Feeding difficulties, Lactic acidosis, Aminoaciduria, Proximal tubulopathy, Vomiting, S...	OMIM:612075
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Sepsis In Premature Infants	Tachycardia, Edema, Abdominal distention, Gastrointestinal dysmotility, Diarrhea, Enterocolitis, ...	ORPHA:90051
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Deh...	ORPHA:411629
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Hypertensi...	OMIM:176000
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ...	ORPHA:529970
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Feeding difficulties in infancy, Dehydration, Oligosacchariduria, Nephrocalc...	ORPHA:534
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Abdominal pain, Malnutri...	OMIM:229600
Lujo Hemorrhagic Fever	Facial edema, Periorbital edema, Odynophagia, Fulminant hepatitis, Hyperhidrosis, Vomiting, Nause...	ORPHA:319213
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Malabsorption, Abdominal pain, Diarrh...	ORPHA:98850
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea	OMIM:613291
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Edema, Diarrhea, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, V...	OMIM:602579
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Increased serum lactate, Enuresis, Renal Fanconi syndrome, High p...	OMIM:619743
Leprechaunism	Clitoral hypertrophy, Enlarged ovaries, Overgrowth of external genitalia, Abdominal distention, R...	ORPHA:508
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Malabsorption, Anorexia, Myocar...	ORPHA:3452
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weig...	OMIM:219800
Galactosemia I	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Diarrhea, Metabolic acidosis, Al...	OMIM:230400
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep...	ORPHA:251992
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Relapsing Fever	Tachycardia, Epistaxis, Abdominal pain, Diarrhea, Hematuria, Abnormality of the urinary system, V...	ORPHA:91547
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Infant Botulism	Cardiac arrest, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Hypertension, Constipat...	ORPHA:178478
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D...	ORPHA:263665
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Dengue Fever	Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,...	ORPHA:99828
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Beta-Ketothiolase Deficiency	Ketonuria, Anorexia, Edema, Increased serum lactate, Ketoacidosis, Diarrhea, Dehydration, Metabol...	ORPHA:134
Alg1-Cdg	Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni...	ORPHA:79327
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i...	OMIM:266600
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension, Feeding diffic...	ORPHA:369873
Renal Tubular Acidosis Iii	Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Hemorrhagic Fever-Renal Syndrome	Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis...	ORPHA:340
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta...	OMIM:191800
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Serotonin Syndrome	Tachycardia, Diarrhea, Hyperhidrosis, Lactic acidosis, Hypertension, Hypotension, Hepatic failure...	ORPHA:43116
Secretory Component Deficiency	Intermittent diarrhea	OMIM:269650
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Hypogonadotropic hypogon...	ORPHA:298
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Edema, Malabsorption, Abdominal pain, Diarrhea, Steato...	ORPHA:2070
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Protein-losing enteropathy	OMIM:277175
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Polyuria, Polyhydramnios, Pericardial effusion, Cryptorchidism, Elevated ci...	OMIM:618183
Gitelman Syndrome	Prolonged QT interval, Hypokalemic alkalosis, Polyuria, Abdominal pain, Renal magnesium wasting, ...	OMIM:263800
Spermatogenic Failure 17	Male infertility	OMIM:617214
Thrombotic Thrombocytopenic Purpura	Renal insufficiency, Proteinuria, Myocardial infarction, Abdominal pain, Diarrhea, Hematuria, Arr...	ORPHA:54057
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Vomiting, Male hyp...	ORPHA:91347
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino...	ORPHA:411696
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Protein-losing enteropathy, Vo...	ORPHA:79319
Mercury Poisoning	Tachycardia, Anorexia, Episodic abdominal pain, Hypertension, Hypotension, Acute kidney injury, E...	ORPHA:330021
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Legionnaires Disease	Nausea and vomiting, Renal insufficiency, Pericarditis, Proteinuria, Anorexia, Abdominal pain, My...	ORPHA:549
Chylomicron Retention Disease	Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea...	OMIM:246700
Combined Malonic And Methylmalonic Acidemia	Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Ketoacidosis, Methylmalonic...	ORPHA:289504
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Proteinuria, Vaginal neoplasm, Hypoperistalsis, Esophageal neopla...	ORPHA:1018
Glucocorticoid Resistance, Generalized	Metabolic alkalosis, Irregular menstruation, Increased circulating ACTH level, Hypertension, Incr...	OMIM:615962
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Decreased mitochondrial number, Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Dilated ...	ORPHA:352447
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Pedal edema, Nephrocalcinosis, Gastrointestinal inf...	ORPHA:342
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Vomiting, Hypotension, Peau ...	ORPHA:79456
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,...	ORPHA:556
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal...	ORPHA:2970
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephrotic syndrome, Shawl scrotum	ORPHA:2575
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypotension, Decreased urinary potassium	OMIM:611489
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Abnormality of the endocrine system, Esophageal atresia, Ventral shortening of for...	ORPHA:95706
Adult Acute Respiratory Distress Syndrome	Shock, Vasculitis, Metabolic acidosis, Diabetic ketoacidosis, Hypotension, Pancreatitis, Pulmonar...	ORPHA:70578
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Esophageal spasms, Proteinuria, Myocardial infarction, Pulm...	ORPHA:447
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Increased serum lactate, D...	OMIM:620300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Feeding difficulties, Hematochezia, Metabolic acidosis, Renal tubular acidos...	OMIM:619575
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Abdominal pain, Inflammatory arteriopathy, Permanent ...	ORPHA:31825
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Myoglobinuria, Tachycardia, Mixed respiratory and metabolic acidosis	OMIM:145600
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Intestinal obstruction, Edema, Pulmonary embolism, Malabsorption, Abdominal pain, Diarrhea, Abnor...	OMIM:226300
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Analbuminemia	Hypercholesterolemia, Oligohydramnios, Hypotension, Edema	OMIM:616000
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Immunodeficiency 104	Diarrhea, Gastroesophageal reflux	OMIM:608971
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El...	ORPHA:276152
Congenital Disorder Of Glycosylation, Type Ih	Edema, Abdominal distention, Cryptorchidism, Diarrhea, Protein-losing enteropathy, Vomiting, Decr...	OMIM:608104
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Diarrhea, Vomiting	OMIM:605911
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Glutaric Aciduria Iii	Hyperthyroidism, Glutaric aciduria, Diarrhea, Hypertension, Vomiting, Goiter	OMIM:231690
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Multicystic kidney dysplasia, Hyd...	ORPHA:2241
Gracile Syndrome	Lactic acidosis, Renal Fanconi syndrome	ORPHA:53693
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prola...	ORPHA:90038
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Abdominal pain, Increased serum lactate, Diarrhea, Metabolic acidosis, Vomiting, Pancreatitis	OMIM:620137
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Elevated c...	ORPHA:913
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Wolman Disease	Nausea and vomiting, Adrenal calcification, Abdominal distention, Malnutrition, Esophageal varix,...	ORPHA:75233
Bacterial Toxic-Shock Syndrome	Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ...	ORPHA:36234
Scrub Typhus	Nausea and vomiting, Renal insufficiency, Abdominal pain, Myocarditis, Hyperhidrosis, Hypotension	ORPHA:83317
Cronkhite-Canada Syndrome	Intestinal polyposis, Anorexia, Malabsorption, Abdominal pain, Lymphedema, Diarrhea, Furrowed ton...	ORPHA:2930
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone...	OMIM:108420
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Precocious pubert...	ORPHA:562
Fragile X-Associated Tremor/Ataxia Syndrome	Bowel incontinence, Pollakisuria, Impotence, Hypertension, Hypotension, Dysphagia, Urinary bladde...	ORPHA:93256
Neuroleptic Malignant Syndrome	Tachycardia, Proteinuria, Urinary incontinence, Pulmonary embolism, Dehydration, Hyperhidrosis, M...	ORPHA:94093
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Dehydration, Malabsorption	ORPHA:33355
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Dec...	OMIM:240300
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor...	ORPHA:97278
Folate Malabsorption, Hereditary	Feeding difficulties in infancy, Diarrhea, Malabsorption	OMIM:229050
Blue Diaper Syndrome	Diarrhea, Elevated circulating thyroid-stimulating hormone concentration, Nephrocalcinosis, Blue ...	ORPHA:94086
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S...	OMIM:616950
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5...	OMIM:118450
Pituitary Apoplexy	Nausea and vomiting, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula...	ORPHA:95613
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Intestinal perf...	OMIM:603041
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Polyhydramnios, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea	OMIM:619971
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Nephrogenic diabetes insipi...	ORPHA:213
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting	OMIM:142623
Lissencephaly, X-Linked, 2	Feeding difficulties in infancy, Diarrhea, High palate, Ambiguous genitalia, Micropenis, Decrease...	OMIM:300215
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Pericardial effusion, Shortened PR interval, Cardiomyopathy, Bradycardia, ...	OMIM:261740
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple ga...	OMIM:175200
Classic Galactosemia	Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ...	ORPHA:79239
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Nephrolithiasis, Metabolic acidosis, Renal tubular acidosis, Pul...	ORPHA:2785
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
3-Hydroxy-3-Methylglutaric Aciduria	Acute pancreatitis, Ketonuria, Cardiac arrest, Anorexia, Edema, Increased serum lactate, Reye syn...	ORPHA:20
Meningococcal Meningitis	Shock, Renal insufficiency, Projectile vomiting, Anorexia, Hypotension	ORPHA:33475
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Internal hemorr...	ORPHA:99827
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati...	OMIM:620103
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis, Hematoche...	OMIM:175500
Myopathy, Myofibrillar, 1	Diarrhea, Dilated cardiomyopathy, Constipation, Third degree atrioventricular block, Bradycardia,...	OMIM:601419
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Di...	OMIM:615710
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Renal Tubular Dysgenesis	Anuria, Abnormality of the urinary system, Hypotension, Renotubular dysgenesis, Oligohydramnios	OMIM:267430
Acute Intermittent Porphyria	Dark urine, Nausea and vomiting, Renal insufficiency, Tachycardia, Urinary incontinence, Dysuria,...	ORPHA:79276
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Metabolic alkalosis, Precocious puberty, I...	ORPHA:786
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Glycogen Storage Disease Iv	Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Cardiomyopathy, As...	OMIM:232500
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Urinary incontinence, Dysphagia	ORPHA:309162
American Trypanosomiasis	Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Edema, Myocarditis, C...	ORPHA:3386
Hellp Syndrome	Pulmonary edema, Proteinuria, Cerebral hemorrhage, Nausea, Abdominal pain, Hemoglobinuria, Vomiti...	ORPHA:244242
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph...	ORPHA:1267
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome...	ORPHA:97261
Brunner Syndrome	Diarrhea	OMIM:300615
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Marburg Hemorrhagic Fever	Anorexia, Odynophagia, Dehydration, Bloody diarrhea, Lactic acidosis, Vomiting, Nausea, Internal ...	ORPHA:99826
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Bloody diarrhea, Lactic acidosis, Cardiomyopathy, Feeding difficulties, Hypertrophic cardiomyopathy	OMIM:615119
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Malabsorption, Cryptorchidism, Hypohidrosis, Ambiguou...	ORPHA:452
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Polyhydramnios, Abdominal distention, Secretory dia...	OMIM:270420
Nipah Virus Disease	Nausea and vomiting, Hypotension, Anorexia	ORPHA:99825
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Nausea and vomiti...	ORPHA:727
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Somatostatinoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor...	ORPHA:97283
Satoyoshi Syndrome	Hypoplasia of the uterus, Diarrhea, Amenorrhea, Malabsorption	OMIM:600705
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Multiple Endocrine Neoplasia Type 2	Hyperhidrosis, Elevated circulating parathyroid hormone level, Pheochromocytoma, Ganglioneuromato...	ORPHA:653
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Urinary retention, Constipation, Dysph...	ORPHA:228371
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Hypertrophic cardiomyopathy, Feeding difficulties	OMIM:620270
Lassa Fever	Shock, Nausea and vomiting, Menometrorrhagia, Abdominal pain, Facial edema, Diarrhea, Oliguria, D...	ORPHA:99824
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Dark urine, Renal insufficiency, Proteinuria, Edema, A...	ORPHA:93552
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Feeding difficulties in infancy, Episodic hyperhidrosis, Di...	OMIM:223900
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Abdominal pain, Diarrhea,...	ORPHA:79101
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P...	OMIM:131100
Vipoma	Anorexia, Poor appetite, Secretory diarrhea, Dehydration, Benign gastrointestinal tract tumors, F...	ORPHA:97282
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Hyperhidrosis, Constipation, Gastroesophageal reflux, ...	OMIM:608643
Pancreatic Colipase Deficiency	Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insufficiency	ORPHA:309108
Infection-Related Hemolytic Uremic Syndrome	Anuria, Edema, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infa...	ORPHA:544482
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Nausea, Abdominal pain, Abdominal distention, Diarrhea, Increas...	ORPHA:100924
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon, Abnormality of the kidney, Renal agenesis, Proteinuria, Chronic kidney dis...	ORPHA:261222
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature...	OMIM:212138
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Hypokalemic metabolic alkalosis, Renal insufficiency, Dyspareunia, A...	ORPHA:36426
Melas	Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Lact...	ORPHA:550
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Glucose-Galactose Malabsorption	Renal insufficiency, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel sounds, Neph...	ORPHA:35710
Familial Mediterranean Fever	Pericarditis, Abdominal pain, Orchitis, Diarrhea, Peritonitis, Stage 5 chronic kidney disease, Ep...	OMIM:249100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Lactic acidosis, Inflammation of the large intestine, Hypothyroidism, Tubuloint...	ORPHA:79259
Central Diabetes Insipidus	Nausea and vomiting, Anorexia, Diarrhea, Dehydration, Diabetes insipidus, Nocturia	ORPHA:178029
Tako-Tsubo Cardiomyopathy	Vomiting, Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia,...	ORPHA:66529
Immunodeficiency, Common Variable, 11	Inflammation of the large intestine, Crohn's disease, Mucoid diarrhea	OMIM:615767
Congenital-Onset Steinert Myotonic Dystrophy	Bundle branch block, First degree atrioventricular block, Abdominal pain, Polyhydramnios, Encopre...	ORPHA:589821
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Chromosome 5Q12 Deletion Syndrome	Macroglossia, Increased nuchal translucency, Hypotension	OMIM:615668
Glycogen Storage Disease Ia	Proteinuria, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Lactic acidosis, Focal segmental glom...	OMIM:232200
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplas...	OMIM:617053
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Pde4D Haploinsufficiency Syndrome	Cryptorchidism, Elevated circulating parathyroid hormone level, Hypospadias, Hypotension	ORPHA:439822
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Portal hypertension, Microcolon, Megacystis, Hepatic failure...	OMIM:619431
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:90695
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation, Hyperhidrosis	OMIM:615548
Poliomyelitis	Anorexia, Paralytic ileus, Hypertension, Hypovolemic shock, Vomiting, Hypotension, Dysphagia, Nausea	ORPHA:2912
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Carcinoid Syndrome	Nausea and vomiting, Tricuspid regurgitation, Right ventricular failure, Lack of bowel sounds, He...	ORPHA:100093
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Increased circulating cor...	ORPHA:97280
Alexander Disease	Nausea and vomiting, Diabetes mellitus, Sudden cardiac death, Bowel incontinence, Precocious pube...	ORPHA:58
Lead Poisoning	Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Abdominal pain, Abdominal ...	ORPHA:330015
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis, Anal atresia	OMIM:235760
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Ventricular tachycardia, Oliguria, Cardiomyopathy, Hypotension, Arrhythmia...	ORPHA:159
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Abdominal pain, Congestive heart failure, Gastrointestinal dysmotility, D...	ORPHA:67
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Mccune-Albright Syndrome	Intestinal polyposis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone c...	OMIM:174800
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Pe...	OMIM:212065
Currarino Syndrome	Bifid scrotum, Hypoplasia of penis, Hypospadias, Male pseudohermaphroditism, Abnormal intestine m...	ORPHA:1552
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chronic diarrhea,...	OMIM:619858
Trichohepatoenteric Syndrome 2	Villous atrophy, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis	OMIM:614602
Yao Syndrome	Pericarditis, Abdominal pain, Diarrhea, Xerostomia, Nephrolithiasis	OMIM:617321
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Polyhydramnios, R...	OMIM:243150
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Esophageal varix, Increased level of L-fucose in urine...	OMIM:215600
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Elevated urinary epine...	OMIM:162300
Cog7-Cdg	Diarrhea, Abnormality of the kidney, Feeding difficulties	ORPHA:79333
Shigellosis	Anorexia, Abdominal pain, Intestinal perforation, Hemolytic-uremic syndrome, Myocarditis, Urethri...	ORPHA:810
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i...	ORPHA:199296
Pure Autonomic Failure	Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Impotence, Syncope, Constipat...	ORPHA:441
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Crypto...	ORPHA:3157
Distal Renal Tubular Acidosis	Hyperphosphaturia, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal cyst, Hypercal...	ORPHA:18
Adrenal Hypoplasia, Congenital	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Renal sa...	OMIM:300200
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Peptic ulcer, Abdominal pain, Diarrhea, Syncope, Hypotension, Nausea	ORPHA:98849
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Nausea, Diarrhea, Alkalosis, Intracranial hemorrhage, Vomitin...	ORPHA:90062
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati...	OMIM:202010
Methimazole Embryofetopathy	Hypospadias, Polyhydramnios, Abnormality of the thyroid gland, Esophageal atresia, Tracheoesophag...	ORPHA:1923
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hypertriglyceridemia, Adrenal calcification, Portal hypertension, Diarrhea...	OMIM:278000
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Diarrhea, Elevated urinary dopamine level, Hyperinsulinemi...	ORPHA:230
Erythermalgia, Primary	Diarrhea, Xerostomia, Hyperhidrosis, Constipation, Palpitations	OMIM:133020
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Bradycardia, Hypotension, Pulmonary edema	ORPHA:70587
Cataract-Nephropathy-Encephalopathy Syndrome	Renal tubular dysfunction	ORPHA:1380
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A...	ORPHA:99745
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria, Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adeno...	ORPHA:79644
Chylomicron Retention Disease	Hypertriglyceridemia, Abdominal distention, Diarrhea, Vomiting, Steatorrhea, Fat malabsorption, H...	ORPHA:71
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Polyuria, Diarrhea, Dehydration, Proximal tubulopathy, Vomiting, Type I diabetes mellitus	OMIM:560000
Inhalational Anthrax	Vomiting, Internal hemorrhage, Hypotension, Abnormal sweat gland morphology	ORPHA:247257
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Anhidrosis, Sinus tachycardia, Nausea, Hepatic failure, Oliguria, Lactic a...	ORPHA:466650
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Dietary Iron Overload Disease	Diabetes mellitus, Congestive heart failure, Peritonitis, Esophageal carcinoma, Abnormal pancreas...	ORPHA:139507
Immunodeficiency 11B With Atopic Dermatitis	Chronic diarrhea, Colonic eosinophilia, Ulcerative colitis	OMIM:617638
Methionine Malabsorption Syndrome	Aminoaciduria, Diarrhea	OMIM:250900
Portal Hypertension, Noncirrhotic, 1	Esophageal varix, Portal hypertension	OMIM:617068
Hereditary Hemorrhagic Telangiectasia	Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Transient ischemi...	ORPHA:774
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Rena...	ORPHA:85284
Angioedema, Hereditary, 1	Intestinal edema, Pharyngeal edema, Abdominal pain, Periorbital edema, Laryngeal edema, Diarrhea,...	OMIM:106100
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Hereditary Fructose Intolerance	Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Epis...	ORPHA:469
Inflammatory Skin And Bowel Disease, Neonatal, 2	Polyhydramnios, Secretory diarrhea, Dehydration, Hypertension, Vomiting	OMIM:616069
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Chronic diarrhea, Esophageal varix, Hypohidrosis, Inflammation of the ...	OMIM:614576
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Congenital Enterovirus Infection	Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis, Hydrops fetalis, Cardiomyopathy...	ORPHA:292
Ethylmalonic Encephalopathy	Lactic acidosis, Diarrhea, Ethylmalonic aciduria	ORPHA:51188
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az...	ORPHA:48
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec...	ORPHA:95494
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Esophageal varix, Renal hypoplasia, Portal hypertension	OMIM:616589
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis, Aganglionic megacolon	ORPHA:2155
Immunodeficiency 76	Chronic diarrhea, Colitis	OMIM:619164
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation	ORPHA:254504
Rapadilino Syndrome	High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate	OMIM:266280
Bile Acid Synthesis Defect, Congenital, 1	Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure, Hypocholesterolemia	OMIM:607765
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diabetes mellitus, Cardiac arrest, Anorexia, Paroxysmal atrial tachycardia, Congestive heart fail...	ORPHA:49827
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hypertension, Mitral regurgitation, Polycystic kidney d...	OMIM:173900
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Inflammation of the large intestine, Gastritis, Diarrhea	OMIM:618108
Autoinflammation With Infantile Enterocolitis	Villous atrophy, Diffuse alveolar hemorrhage, Feeding difficulties in infancy, Secretory diarrhea...	OMIM:616050
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea	OMIM:614102
Noonan Syndrome 7	Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Hyperhidrosis, Pulmonic ste...	OMIM:613706
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Pleural empyema, Hypotension, Increased circulating procalcitonin conce...	ORPHA:36238
Tubulointerstitial Nephritis And Uveitis Syndrome	Anorexia, Abdominal pain, Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria,...	ORPHA:91500
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Bidirection...	OMIM:619351
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Nausea, Abdominal p...	ORPHA:71273
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Anorexia, Malabsorption, Periorbital...	ORPHA:33226
Acute Radiation Syndrome	Diarrhea, Vomiting, Hypotension, Telangiectasia	ORPHA:454831
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas...	OMIM:615954
Benign Recurrent Intrahepatic Cholestasis	Nausea and vomiting, Anorexia, Abdominal pain, Chronic diarrhea, Acholic stools, Hepatocellular c...	ORPHA:65682
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Dicarboxylic aciduria, Increased circulating free f...	ORPHA:71212
Cholestasis, Progressive Familial Intrahepatic, 3	Diarrhea, Ascites, Bile duct proliferation, Malabsorption	OMIM:602347
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le...	ORPHA:99429
Carnitine Deficiency, Systemic Primary	Dicarboxylic aciduria, Congestive heart failure, Diarrhea, Dehydration, Cardiomyopathy, Mitral re...	OMIM:212140
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Bowel incontinen...	ORPHA:93930
Isolated Agammaglobulinemia	Diarrhea, Malabsorption	ORPHA:229717
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Abdominal pain, Pericardia...	ORPHA:36412
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating...	ORPHA:1227
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Chronic kidney disease, Esophag...	ORPHA:84081
Perry Syndrome	Hypotension	ORPHA:178509
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Constipation, Dysphagia, ...	OMIM:226600
Scorpion Envenomation	Bundle branch block, Respiratory alkalosis, Edema, Hyperhidrosis, Vomiting, Prominent U wave, Pri...	ORPHA:466677
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Chronic diarrhea, Dilated cardiomyopathy, Lactic acidosis, Pancreatitis	OMIM:618805
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Fat malabsorption, Epistaxis, Diarrhea	OMIM:211600
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-obstruction,...	ORPHA:1333
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Hyperhidros...	ORPHA:1332
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Neoplasm of ...	ORPHA:97289
Hereditary Mixed Polyposis Syndrome	Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi...	ORPHA:157794
Spontaneous Periodic Hypothermia	Nausea and vomiting, Arrhythmia, Diarrhea, Hyperhidrosis	ORPHA:29822
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal pain, Diarrhea, Elevated urinary dopamine level, ...	OMIM:256700
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,...	ORPHA:95512
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Abdominal pain, High palate, Vomiting, Hypotension, Arrhythmia	ORPHA:2135
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemic alkalosis, Proximal tubulopathy, Vomiting, Increased circulating renin level, Nausea	OMIM:241150
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Edema, Diarrhea, Hematuria, Intracranial hemorrhage, Meno...	ORPHA:324636
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Polyhydramnios, Esophageal atresia, Congenital pyloric atresia, Urethrovesical occlusion, Intract...	OMIM:226730
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abdominal pain, High, narrow palate, Rectal prolapse, Adenomatous co...	ORPHA:79076
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti...	OMIM:617788
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula	OMIM:601110
Spermatogenic Failure 14	Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti...	OMIM:615842
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito...	ORPHA:343
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, High palate, Am...	ORPHA:1772
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Pediatric-Onset Graves Disease	Nausea and vomiting, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure...	ORPHA:525731
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Diarrhea, Abnormal testis morphology, Abnormality of the kidney, Abdominal pain	ORPHA:54251
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo...	OMIM:263400
Autosomal Agammaglobulinemia	Diarrhea, High palate, Dehydration, Malabsorption	ORPHA:33110
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Zygomycosis	Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nephritis, Nausea, Abdo...	ORPHA:73263
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,...	ORPHA:95513
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Esophageal varix, Hepatocellular carcinoma, Ascites	OMIM:619463
Autosomal Dominant Hypocalcemia	Abdominal pain, Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hypotension, Arrhythm...	ORPHA:428
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Poor appetite, Malabsorption, Abdominal distention, Ch...	OMIM:227810
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Esophageal stricture, Dilated cardiomyopathy, Malnutrition, Fe...	ORPHA:89842
Encephalopathy, Ethylmalonic	Lactic acidosis, Chronic diarrhea, Ethylmalonic aciduria, Feeding difficulties	OMIM:602473
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix, Portal hypertension, Retinal telangiectasia	OMIM:617341
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Nausea and vomiting, Malabsorption, Increased serum lactate, Feeding difficulties, Lactic acidosi...	OMIM:616539
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Polyhydramnios, Abdominal distention, Microcolon, Megacystis, Fetal megacystis, Hydr...	OMIM:619362
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Cystic Fibrosis	Male infertility, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hypercalciuria, Dehydration, ...	OMIM:219700
Cholestasis, Progressive Familial Intrahepatic, 2	Fat malabsorption, Diarrhea, Hepatocellular carcinoma	OMIM:601847
Carney Complex	Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma...	ORPHA:1359
Celiac Disease, Susceptibility To, 1	Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroiditis, Vomiting, Infertilit...	OMIM:212750
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R...	ORPHA:2973
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Renal insufficiency, Membranoproliferative glomerulonephritis, Edema, Hemo...	OMIM:619644
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Telangiectasia of the skin, Malabsorption, Lymphedema,...	ORPHA:2176
Boutonneuse Fever	Renal insufficiency, Abdominal pain, Diarrhea, Vasculitis, Nausea	ORPHA:83313
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Coach Syndrome 1	Unilateral renal agenesis, Portal hypertension, Multiple small medullary renal cysts, Esophageal ...	OMIM:216360
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Abnormality of the kidney, Cerebral hemorrhage, Diffuse alveolar hem...	ORPHA:464321
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis	OMIM:613960
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Diarrhea, Hyperlipidemia, Hypertension, Acute kidney injury	OMIM:235400
Immunodeficiency 48	Diarrhea	OMIM:269840
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom...	OMIM:619377
Osteopetrosis, Autosomal Recessive 3	Distal renal tubular acidosis	OMIM:259730
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Ant...	OMIM:608836
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, High palate, Hypothyroidism, Nasogastric tube feeding	OMIM:607906
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Diarrhea, Vomiting, Decreased live...	ORPHA:42
Leptospirosis	Nausea and vomiting, Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinar...	ORPHA:509
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Right ventricular failure, Abdominal distention, Diarrhea, Heart murmur, Episodic abdom...	ORPHA:100085
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Bloody diarrhea	OMIM:614328
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Bile Acid Synthesis Defect, Congenital, 2	Diarrhea, Hepatic failure, Steatorrhea	OMIM:235555
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Diabetes insipidus	ORPHA:30925
Alg8-Cdg	Abnormality of the gastrointestinal tract, Edema, Diarrhea, Hydrops fetalis, Feeding difficulties...	ORPHA:79325
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Citrullinemia Type Ii	Hypertriglyceridemia, Diarrhea, Hyperlipidemia, Enuresis, Vomiting, Hepatocellular carcinoma, Hyp...	ORPHA:247585
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Plague	Tachycardia, Anorexia, Abdominal pain, Hematemesis, Edema, Diarrhea, Enterocolitis, Bloody diarrh...	ORPHA:707
Hereditary Folate Malabsorption	Nausea and vomiting, Recurrent urinary tract infections, Anorexia, Diarrhea, Gastroesophageal ref...	ORPHA:90045
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Diarrhea, Cardiomyopathy, Impotence, Constipation, Episodic vomiting, Ortho...	OMIM:105210
Iatrogenic Botulism	Orthostatic hypotension, Xerostomia, Urinary retention, Constipation, Dysphagia	ORPHA:254509
Dracunculiasis	Nausea and vomiting, Diarrhea	ORPHA:231
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Type I diabetes mellitus, Hypothyro...	OMIM:304790
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Chronic diarrhea, Dilated cardiomyopathy, Arrhythmia, Nausea	OMIM:615084
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Colitis	OMIM:209920
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Abnormality of the endocrine system, Congestive heart failure, Diarrhea, Esophag...	ORPHA:391487
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea, Polyhydramnios	OMIM:266250
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Increased urinary glycerol, Reye syndrome-like episodes, Diarrhea, Lactic acidosis, ...	ORPHA:348
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Inflammation of the large intestine, Colitis	OMIM:619281
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Diarrhea, Lymphocytic infiltration of the colorectal mucosa, Thyroiditis, Inf...	ORPHA:436159
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Melena,...	ORPHA:319218
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Congestive heart failure, Dilated...	ORPHA:367
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Genital edema, Feeding difficulties in infancy, Chronic diarrhea, Pedal edema, Hypohidrosis, Infl...	ORPHA:98813
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,...	OMIM:615895
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Intestinal malrotation, Hiatus hernia, Renal hypopl...	ORPHA:2538
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Poor appetite,...	ORPHA:91355
Yellow Fever	Shock, Renal insufficiency, Anuria, Acute pancreatitis, Supraventricular arrhythmia, Nausea, Hema...	ORPHA:99829
Sandhoff Disease	Orthostatic hypotension, Urinary incontinence, Chronic diarrhea, Episodic abdominal pain, Hyperhi...	OMIM:268800
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Cerebral ischemia, Vo...	ORPHA:927
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy, Dysphagia	OMIM:252930
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Diarrhea, Lymphedema	ORPHA:33276
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Abnormality of the urina...	ORPHA:79409
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Diarrhea, Abdominal pain	OMIM:615399
Bronchogenic Cyst	Abdominal pain, Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Diarrhea, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa, Crohn's disease	OMIM:616100
Adiposis Dolorosa	Telangiectasia of the skin, Diarrhea, Xerostomia, Constipation, Hypothyroidism	ORPHA:36397
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacol...	ORPHA:847
Rhombencephalosynapsis	Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Tracheoesophageal fistula, ...	ORPHA:59315
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Ovarian neoplasm, Macroglossia, Glossitis	ORPHA:2221
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Diarrhea, Malnutrition, Hypocholesterolemia, Type I diabetes mellitus, Fat ma...	ORPHA:96180
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Esophageal atresia, Cryptorchidism, Tracheoesophageal fistula	ORPHA:77298
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Immunodeficiency 97 With Autoinflammation	Recurrent urinary tract infections, Hypertriglyceridemia, Abdominal pain, Diarrhea, Enterocolitis...	OMIM:619802
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res...	ORPHA:293978
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Diarrhea, Malabsorption, Protruding tongue	OMIM:242860
Mucopolysaccharidosis, Type Ii	Intestinal pseudo-obstruction, Heparan sulfate excretion in urine, Congestive heart failure, Diar...	OMIM:309900
Phosphoribosylaminoimidazole Carboxylase Deficiency	Polyhydramnios, Bilateral cryptorchidism, Esophageal atresia, Coronal hypospadias, Tracheoesophag...	OMIM:619859
Retinitis Pigmentosa 89	Esophageal varix	OMIM:618955
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Steatorrhea	OMIM:619481
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Congenital Toxoplasmosis	Diarrhea, Ascites	ORPHA:858
Plummer-Vinson Syndrome	Tongue atrophy, Poor appetite, Abdominal pain, Esophageal web, Dysphagia, Glossitis	ORPHA:54028
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Pericarditis, Abdominal pain, Orchitis, Periorbital edema, Diarrhea, Vasc...	ORPHA:32960
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Edema, Cryptorchidism, Transverse vaginal septum, Hydrometroc...	OMIM:236700
Fryns Syndrome	Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Polyhyd...	ORPHA:2059
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin...	OMIM:219080
Refractory Celiac Disease	Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Protein-losing en...	ORPHA:398063
Bile Acid Synthesis Defect, Congenital, 3	Diarrhea, Hematochezia, Acholic stools, Bile duct proliferation, Steatorrhea, Hepatic failure	OMIM:613812
Pearson Syndrome	Elevated lactate:pyruvate ratio, Decreased response to growth hormone stimulation test, Hydrops f...	ORPHA:699
Cold Agglutinin Disease	Nausea and vomiting, Abnormal urinary color, Diarrhea	ORPHA:56425
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Chronic diarrhea, Enlarged kidney	OMIM:615285
Hardikar Syndrome	Vomiting, Vesicoureteral reflux, Bladder exstrophy, Cleft soft palate, Portal hypertension, Abdom...	OMIM:301068
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima...	OMIM:615830
Enterokinase Deficiency	Diarrhea, Hypoproteinemic edema	OMIM:226200
Autosomal Recessive Polycystic Kidney Disease	Biliary hyperplasia, Protein-losing enteropathy, Hepatoblastoma, Portal hypertension, Oliguria, R...	ORPHA:731
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Abdominal pain, Ileus, Hypohidrosis, Hypogonadism, Constipation, Arrhythmi...	ORPHA:163746
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Edema, Abdominal pain, Pericardial effusion, Ch...	ORPHA:90362
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Abnormal urinary color, Diarrhea, Hemoglobinuria	ORPHA:90035
Fanconi Anemia, Complementation Group B	Renal agenesis, Hypergonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Hy...	OMIM:300514
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hyperthyroidism, Gastritis, Malabsorption, Abnormality of the endocrine system, Ileus, Secretory ...	ORPHA:37042
Immunodeficiency, Common Variable, 7	Recurrent urinary tract infections, Chronic diarrhea	OMIM:614699
Cog4-Cdg	Fatal liver failure in infancy, Hypercholesterolemia, Feeding difficulties, Intermittent diarrhea...	ORPHA:263501
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Periorbital edema, Chronic diarrhea, Chronic constip...	OMIM:142680
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Tricuspid steno...	ORPHA:391641
Diarrhea 13	Secretory diarrhea, Vomiting	OMIM:620357
Deeah Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Malabsorpti...	OMIM:619004
Mednik Syndrome	Volvulus, Jejunal atresia, Microcolon, Diarrhea	OMIM:609313
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal tubular dysfunction, Renal insufficiency, Pancreatitis, Nausea and vomiting	ORPHA:289916
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Pituitary adenoma, Adenomatous colonic polyposis, Diarrhea,...	ORPHA:99818
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Chronic constipation, Inflammation...	OMIM:301074
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Hypohidrosis, Adrenal insuffi...	OMIM:615510
Immunodeficiency 60 And Autoimmunity	Chronic diarrhea, Colitis, Crohn's disease, Ulcerative colitis	OMIM:618394
Caroli Disease	Cholangiocarcinoma, Portal hypertension, Anorexia, Abdominal pain, Esophageal varix, Abdominal ri...	ORPHA:53035
Chronic Graft Versus Host Disease	Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture, Diarrhea,...	ORPHA:99921
Aspergillosis	Intracranial hemorrhage, Pleural effusion, Abnormality of the kidney, Abnormal esophagus morphology	ORPHA:1163
Wilson Disease	Hypoparathyroidism, Acute hepatic failure, Hyperphosphaturia, Proteinuria, Edema, Hepatocellular ...	OMIM:277900
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Aplasia of the thymus, Malabsorption, Hypothyroidism, Diarrhe...	ORPHA:83471
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Gastric varix, Hepatocellular...	ORPHA:64743
Immunodeficiency 40	Intermittent diarrhea, Focal active colitis, Chronic diarrhea, Rectal fistula	OMIM:616433
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Barrett Esophagus	Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux	OMIM:614266
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Renal hypoplasia/aplasia...	ORPHA:2473
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy	OMIM:252920
Combined Immunodeficiency-Enteropathy Spectrum	Intestinal malrotation, Polyhydramnios, Jejunoileal ulceration, Abdominal distention, Gastrointes...	ORPHA:436252
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Edema, Hematemesis, Pericardial effusion, Diarrhea, Vasculitis, Bloody diarrh...	OMIM:615846
Lysinuric Protein Intolerance	Increased serum lactate, Protein avoidance, Diarrhea, Malnutrition, Pancreatitis, Stage 5 chronic...	OMIM:222700
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Diarrhea, High palate	OMIM:614069
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Feeding dif...	OMIM:613489
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Increased serum lactate, Chronic diarrhea, Feeding difficulties, Lactic acidosis, Dysphagia, Orot...	OMIM:620358
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Prolonged Q...	ORPHA:273
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Hypertriglyceridemia, Dilated car...	OMIM:619573
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Annular pancreas, Tracheoesoph...	ORPHA:210122
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Hypogona...	ORPHA:500055
Immunodeficiency 85 And Autoimmunity	Villous atrophy, Chronic diarrhea, Vomiting, Tube feeding	OMIM:619510
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Familial Renal Glucosuria	Recurrent urinary tract infections, Abnormal circulating insulin concentration, Dehydration, Rena...	ORPHA:69076
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy	OMIM:252900
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Cryptorchidism, Diarrhea, Hypohidrosis, Hypertension, Male hypo...	ORPHA:90321
Trichothiodystrophy 5, Nonphotosensitive	Micropenis, Chronic diarrhea, Panhypopituitarism, Decreased testicular size	OMIM:300953
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Anteriorl...	OMIM:201750
Neuropathy, Hereditary Sensory And Autonomic, Type V	Anhidrosis, Diarrhea, Constipation, Urinary incontinence	OMIM:608654
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Cardiac conduction abnormality, Oral-pharyngeal dyspha...	ORPHA:2131
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Vomitin...	OMIM:231680
Hyaline Fibromatosis Syndrome	Diarrhea	OMIM:228600
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Polyhydramnios, Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Enlarged kidney,...	OMIM:314390
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Diarrhea	OMIM:618495
Agammaglobulinemia 3, Autosomal Recessive	Diarrhea	OMIM:613501
Microsporidiosis	Glossitis, Anorexia, Abdominal pain, Myocarditis, Abnormality of the parathyroid gland, Urethriti...	ORPHA:2552
Beta-Thalassemia Intermedia	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Pulmonary arterial h...	ORPHA:231222
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Esophageal atresia, Tracheoesophageal fistula	OMIM:189960
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Diarrhea, Pulmonary insufficiency	ORPHA:277
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Diarrhea, Dilated ca...	ORPHA:231226
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Chronic diarrhea, Colitis, Hypohidrosis	OMIM:301220
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Colitis	OMIM:615190
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Poor appetite, Diarrhea, Hypogonadism, Decreased serum testosterone concentration, Decreased test...	OMIM:201100
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Abdominal distention, Megacystis, Cleft ...	ORPHA:2604
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Nonimmune hydrops fetalis, Pericardial effusion, Diarrhea, Hypoplasia of th...	OMIM:619313
Combined Immunodeficiency Due To Zap70 Deficiency	Chronic diarrhea, Nephrotic syndrome, Colitis, Stomatitis, Recurrent infection of the gastrointes...	ORPHA:911
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Abdominal pain, Non-acidotic proximal tubulo...	ORPHA:1652
Dpm1-Cdg	High, narrow palate, Diarrhea, External genital hypoplasia, Gastrostomy tube feeding in infancy	ORPHA:79322
Avian Influenza	Abdominal pain, Congestive heart failure, Diarrhea, Vomiting, Pleural effusion, Acute kidney injury	ORPHA:454836
Arima Syndrome	Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:243910
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Esophageal stricture, Chronic diarrhea, Dilated cardiomyopathy, Oral leukoplakia	OMIM:613989
Good Syndrome	Recurrent urinary tract infections, Diabetes mellitus, Diarrhea, Thymoma, Dysphagia, Aplasia/Hypo...	ORPHA:169105
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Portal hypertension, Diarrhea, Urinary retention, Recurrent gastroenteritis, Inappropriate antidi...	ORPHA:79124
Houge-Janssens Syndrome 1	Pyloric stenosis, Chronic diarrhea	OMIM:616355
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Increased serum lactate, Diarrhea, Dilated cardiomyopathy, Vomiting, Episodic vomiti...	OMIM:618321
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Abdominal pain, Abdominal distention, Diarrhea, Colitis, Steatorrhea, Exocrine pancreatic ...	ORPHA:309031
Progeroid Short Stature With Pigmented Nevi	Premature ovarian insufficiency, Hypospadias, Diabetes mellitus, Chordee, Aortic valve stenosis, ...	OMIM:176690
Bloom Syndrome	Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Diabetes m...	ORPHA:125
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Reactive Arthritis	Aortic regurgitation, Recurrent urinary tract infections, Pericarditis, Abdominal pain, Diarrhea,...	ORPHA:29207
B4Galt1-Cdg	Diarrhea, Hypothyroidism, Edema	ORPHA:79332
Dyskeratosis Congenita	Neoplasm of the pancreas, Esophageal stenosis, Telangiectasia of the skin, Diabetes mellitus, Abn...	ORPHA:1775
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
19P13.13 Microdeletion Syndrome	Abdominal pain, Diarrhea, Increased nuchal translucency, Functional abnormality of the gastrointe...	ORPHA:357001
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Decreased serum insulin-like growth factor 1, Sudden cardiac death, Dilated cardiomy...	OMIM:614921
Alg9-Cdg	Hypoplasia of the bladder, Villous atrophy, Tricuspid regurgitation, Ureteral hypoplasia, Pericar...	ORPHA:79328
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Macroglossia, Chronic diarrhea	OMIM:618523
Biotinidase Deficiency	Metabolic ketoacidosis, Feeding difficulties in infancy, Diarrhea, Organic aciduria, Vomiting	OMIM:253260
Caroli Syndrome	Cholangiocarcinoma, Abnormality of the kidney, Portal hypertension, Abdominal pain, Hematemesis, ...	ORPHA:480520
Omenn Syndrome	Edema, Chronic diarrhea, Thyroiditis, Nephrotic syndrome, Hypothyroidism	ORPHA:39041
Kindler Syndrome	Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Phimosis, Urethral stenosis, Dysp...	OMIM:173650
Immunodeficiency 31C	Villous atrophy, Diabetes mellitus, Diarrhea, Gastrointestinal eosinophilia, Protein-losing enter...	OMIM:614162
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Complement Component 4B Deficiency	Chronic diarrhea	OMIM:614379
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Diarrh...	OMIM:307200
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Hypertrophic cardiomyopathy, Diarrhea	ORPHA:1842
Vacterl With Hydrocephalus	Renal agenesis, Polyhydramnios, Renal hypoplasia/aplasia, Esophageal atresia, Cryptorchidism, Tra...	ORPHA:3412
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Aganglionic megacolon, Hyperhidrosis	ORPHA:2151
Immunodeficiency 69	Diarrhea	OMIM:618963
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis, Hypercalciuria	ORPHA:2239
Immunodeficiency, Common Variable, 2	Diarrhea	OMIM:240500
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Male sexual dysfunction, Constipation, Female sexual dysfunction, Nausea	ORPHA:2828
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Recurrent infection of the gastrointestinal tract, Recurrent aphthous stomatitis, Abdom...	ORPHA:486
Beta-Thalassemia Major	Hypoparathyroidism, Diabetes mellitus, High-output congestive heart failure, Diarrhea, Dilated ca...	ORPHA:231214
Immunodeficiency 17	Chronic diarrhea, Abnormal intestine morphology, Anoperineal fistula, Recurrent gastroenteritis	OMIM:615607
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Diarrhea	OMIM:601457
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Protei...	OMIM:619991
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea	OMIM:619446
Graft Versus Host Disease	Tachycardia, Abdominal pain, Diarrhea, Gastrointestinal inflammation, Vomiting, Recurrent gastroe...	ORPHA:39812
Coffin-Siris Syndrome 11	Cleft soft palate, Feeding difficulties in infancy, Esophageal atresia, High palate, Bifid uvula	OMIM:618779
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal...	OMIM:229850
X-Linked Agammaglobulinemia	Glossoptosis, Chronic diarrhea, Malabsorption	ORPHA:47
Cholestasis, Progressive Familial Intrahepatic, 8	Hypercholesterolemia, Bile duct proliferation, Esophageal varix, Portal hypertension	OMIM:619662
Congenital Myopathy 20	Chronic diarrhea, High palate	OMIM:620310
Immunodeficiency 19	Chronic diarrhea	OMIM:615617
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Edema, Renal cyst, Gastrointestinal inflammation, Dehydration, Aplasia/Hypopl...	ORPHA:79404
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Trach...	OMIM:619227
Agammaglobulinemia 6, Autosomal Recessive	Diarrhea	OMIM:612692
Ectodermal Dysplasia/Short Stature Syndrome	Esophageal stricture, Dysphagia	OMIM:616029
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Recurrent urinary tract infections, Premature ovarian...	OMIM:251260
Kawasaki Disease	Nausea and vomiting, Pericarditis, Proteinuria, Edema, Abdominal pain, Congestive heart failure, ...	ORPHA:2331
Trichothiodystrophy 1, Photosensitive	Intestinal obstruction, Malabsorption, Chronic diarrhea, Telangiectasia, Hypogonadism	OMIM:601675
Syndromic Diarrhea	Aortic regurgitation, Villous atrophy, Gastritis, Renal hypoplasia, Bloody diarrhea, Colitis, Hyp...	ORPHA:84064
Sapho Syndrome	Edema, Malabsorption, Abdominal pain, Vasculitis, Chronic diarrhea, Inflammation of the large int...	ORPHA:793
Rothmund-Thomson Syndrome Type 1	Premature ovarian insufficiency, Facial edema, Cryptorchidism, Diarrhea, Functional abnormality o...	ORPHA:221008
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Ketonuria, Increased urinary glycerol, Hypertriglyceridemia, Poor ap...	ORPHA:247598
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Portal hypertension, Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, ...	OMIM:613385
Wiskott-Aldrich Syndrome	Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Ulcerative colitis, Large vessel vasculitis, ...	OMIM:301000
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Chronic diarrhea, Thyroiditis, Inflammation of the large int...	OMIM:614700
Shwachman-Diamond Syndrome 2	Diarrhea, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Reye syndrome-like episodes, Abdominal distention, Diarrhea, Lactic acidos...	OMIM:256810
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Pleural effusion, Diarrhea	ORPHA:411703
Glycogen Storage Disease Ixb	Diarrhea	OMIM:261750
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Dubowitz Syndrome	Hypoparathyroidism, Anal stenosis, Hypospadias, Malabsorption, Cryptorchidism, Rectal prolapse, S...	ORPHA:235
Immunodeficiency 27A	Diarrhea, Anorexia	OMIM:209950
Wiskott-Aldrich Syndrome	Glomerulopathy, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Abnormality...	ORPHA:906
Immunodeficiency 58	Helicobacter pylori infection, Dysuria, Chronic diarrhea, Colitis, Recurrent aphthous stomatitis,...	OMIM:618131
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Esophageal varix, Pulmonary arterial hypertensi...	ORPHA:974
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Small scrotum, Intestinal malrotation, Portal hypertension, E...	OMIM:613658
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Eso...	OMIM:227646
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Renal hyp...	OMIM:614083
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Diarrhea, Xanthelasma, Pseudobulbar paralysis, Cholelithi...	OMIM:213700
Mucopolysaccharidosis, Type Iiid	Heparan sulfate excretion in urine, Diarrhea, Asymmetric septal hypertrophy, Macroglossia, Mitral...	OMIM:252940
Severe Combined Immunodeficiency, X-Linked	Chronic diarrhea, Hypoplasia of the thymus	OMIM:300400
Acrodermatitis Enteropathica	Poor appetite, Malabsorption, Anorexia, Chronic diarrhea, Furrowed tongue, Glossitis	ORPHA:37
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level, Diarrhea, Dilated cardiomyopathy, Vomiting, Bradycardia	OMIM:610768
Immunodeficiency, Common Variable, 1	Diarrhea	OMIM:607594
Immunodeficiency 46	Chronic diarrhea	OMIM:616740
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Vaginal dryness, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Intesti...	ORPHA:95455
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Diarrhea, Bowel irritabilit...	OMIM:619381
Immunodeficiency 59 And Hypoglycemia	Malabsorption, Chronic diarrhea, High palate, Arteritis, Recurrent aphthous stomatitis	OMIM:233600
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Renal artery aneurysm, Portal hypertension, Abdominal pain, Raynaud phenomenon, Dilated cardiomyo...	OMIM:615688
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Abdominal pain, Diarrhea, Chronic diarrhea, Vasculitis, Joint swelling	OMIM:617099
Mucoepithelial Dysplasia, Hereditary	Chronic diarrhea, Furrowed tongue, Melena, Hematuria, Corneal neovascularization	OMIM:158310
Peroxisome Biogenesis Disorder 12A (Zellweger)	Renal tubular dysfunction, Abnormality of the male genitalia, Cholelithiasis, Hepatic failure, Po...	OMIM:614886
Hyperzincemia With Functional Zinc Depletion	Diarrhea, Vasculitis	OMIM:601979
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased heart rate variability, Cryptorchidism, Chronic diarrhea, Chronic constipation, High pa...	OMIM:619005
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Diarrhea, Recurrent aphthous stomatitis	OMIM:150550
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Neuroendocrine neoplasm, Carcinoid tumor	ORPHA:100084
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Villous atrophy, Hypospadias, Polyhydramnios, Galactosuria, Pulmonic stenos...	OMIM:222470
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Hypertriglyceridemia, Hypercholesterolemia, Polyuria, Diarrhea, Feeding ...	OMIM:606721
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Diarrhea, Anorexia, Protracted diarrhea	ORPHA:169160
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Villous atrophy, Chronic diarrhea, Thyroiditis, Type I diabetes mellitus, Hypothyroidism	OMIM:606367
Immunodeficiency 15B	Chronic diarrhea	OMIM:615592
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Malabsorption, Raynau...	ORPHA:3260
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Cholestasis, Progressive Familial Intrahepatic, 9	Diarrhea, Portal hypertension	OMIM:619849
Ogden Syndrome	Maternal diabetes, Lymphedema, Ventricular tachycardia, High palate, Vomiting, Supraventricular t...	OMIM:300855
Dyskeratosis Congenita, Autosomal Recessive 8	Oral leukoplakia, Pancolitis, Inflammation of the large intestine, Esophageal stricture	OMIM:620133
Dyskeratosis Congenita, Autosomal Dominant 6	Esophageal stenosis, Oral leukoplakia	OMIM:616553
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture, Telangiectasia	ORPHA:158673
Immunodeficiency 22	Pericarditis, Diarrhea, Protracted diarrhea, Capillary leak, Ascites	OMIM:615758
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Periodic Fever, Menstrual Cycle-Dependent	Increased circulating cortisol level	OMIM:614674
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Constipation	OMIM:250250
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ...	OMIM:617718
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Anal fissure, Glomerulonephritis, Chronic kidney disease...	ORPHA:79408
Immunodeficiency By Defective Expression Of Mhc Class Ii	Diarrhea, Recurrent infection of the gastrointestinal tract, Protracted diarrhea	ORPHA:572
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Apert Syndrome	Feeding difficulties in infancy, Esophageal atresia, Cleft palate, Narrow palate, Ovarian neoplas...	ORPHA:87
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:620197
Caspase 8 Deficiency	Chronic diarrhea	OMIM:607271
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Palpebral edema, Unilateral renal agenesis, Diarrhea, Gastroe...	ORPHA:221139
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Hypospadias, Nonimmune hydrops fetalis, Esophageal atresia, Dilatation of the bla...	OMIM:265380
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, Ectopic kidne...	ORPHA:96149
Dubowitz Syndrome	Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Velopharyngeal insufficiency, Submu...	OMIM:223370
Familial Gestational Hyperthyroidism	Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor...	ORPHA:99819
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti...	OMIM:617091
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E...	OMIM:227650
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Testicular neoplasm, Elevated ...	ORPHA:249
Mevalonic Aciduria	Diarrhea, Vomiting, Elevated urine mevalonic acid level, Edema	OMIM:610377
Immunodeficiency 56	Chronic diarrhea, Recurrent infection of the gastrointestinal tract, Hepatic failure	OMIM:615207
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Hyperhidrosis, Secretory diarrhea, Elevated urinary prostaglandin E2 level	OMIM:167100
Transcobalamin Ii Deficiency	Diarrhea, Vomiting, Methylmalonic aciduria	OMIM:275350
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Hypercalciuria, Renal p...	OMIM:241530
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Diarrhea, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hor...	ORPHA:424
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Esophageal varix, Pulmonic stenosis	OMIM:616028
African Trypanosomiasis	Abnormal EKG, Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the menstru...	ORPHA:3385
Hyper-Igd Syndrome	Abdominal pain, Diarrhea, Chronic diarrhea, Vomiting, Renal angiomyolipoma, Elevated urine mevalo...	OMIM:260920
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Abdominal distention, Chronic diarrhea, Gastroesophageal reflux, Vomitin...	OMIM:620233
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Feeding difficulties, Constipation, High palate, Intermittent diarrhea	OMIM:618050
Immunodeficiency 92	Chronic diarrhea, Esophagitis	OMIM:619652
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Intestinal malrotation, Exocr...	ORPHA:2255
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Intestinal malrotation, Female infertility	ORPHA:244
Rothmund-Thomson Syndrome Type 2	Facial edema, Cryptorchidism, Diarrhea, Functional abnormality of the gastrointestinal tract, Cle...	ORPHA:221016
Trisomy 18	Abnormality of the upper urinary tract, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft ...	ORPHA:3380
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate	ORPHA:457279
Erythroderma Desquamativum	Diarrhea	ORPHA:314
Hurler Syndrome	Angina pectoris, Chronic diarrhea, Feeding difficulties, Macroglossia, Hypertension, Mucopolysacc...	ORPHA:93473
Listeriosis	Pericarditis, Abdominal pain, Congestive heart failure, Myocarditis, Diarrhea, Peritonitis, Pyelo...	ORPHA:533
Benign Schwannoma	Intestinal polyposis, Abnormality of the adrenal glands, Abnormal parotid gland morphology, Abnor...	ORPHA:252164
Trichohepatoneurodevelopmental Syndrome	Polyhydramnios, Chronic diarrhea, Feeding difficulties, Macroglossia, Gastroesophageal reflux, Hi...	OMIM:618268
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Specific Granule Deficiency 2	Intractable diarrhea	OMIM:617475
Apert Syndrome	Pyloric stenosis, Esophageal atresia, Cryptorchidism, Narrow palate, Cleft palate, Hydronephrosis...	OMIM:101200
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm	OMIM:614874
Immunodeficiency 9	Stomatitis, Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:612782
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate	OMIM:614526
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Selective Igm Deficiency	Recurrent urinary tract infections, Raynaud phenomenon, Chronic diarrhea, Thyroid carcinoma, Croh...	ORPHA:331235
Kindler Epidermolysis Bullosa	Urethral stricture, Phimosis, Esophageal stricture, Neoplasm of the urethra, Inflammation of the ...	ORPHA:2908
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Chronic diarrhea, Epididymitis, Hepatocellular carcinoma, Pro...	OMIM:300755
Immunodeficiency 23	Esophageal stricture, Membranoproliferative glomerulonephritis, High palate, Vasculitis in the skin	OMIM:615816
Immunodeficiency 7	Diarrhea	OMIM:615387
Mucopolysaccharidosis Type 3	Malabsorption, Heparan sulfate excretion in urine, Atrioventricular block, Macroglossia, Mucopoly...	ORPHA:581
Immunodeficiency 12	Esophageal stricture, Recurrent aphthous stomatitis	OMIM:615468
Occipital Horn Syndrome	Orthostatic hypotension, Ureteral obstruction, Hiatus hernia, Chronic diarrhea, Bladder diverticu...	OMIM:304150
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Pancolitis, Bloody diarrhea, Anoper...	OMIM:618213
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, High, ...	OMIM:615873
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Absent gallbladder, Diabetes mellitus, Intestinal malrotation, Pulmonic ste...	OMIM:600001
Fanconi Anemia, Complementation Group Q	Anteriorly placed anus, Esophageal atresia	OMIM:615272
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Polyuria, Unilateral renal agenesis, Feeding difficulti...	OMIM:617140
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Septate vagina, Uterus didelphy...	OMIM:617925
Microphthalmia, Syndromic 3	Hypospadias, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Esophageal atresia, Cr...	OMIM:206900
Agammaglobulinemia 8B, Autosomal Recessive	Chronic diarrhea	OMIM:619824
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Gastroesophageal reflux, Tricuspid regurgit...	OMIM:619534
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Cryptorchidism, Abdominal disten...	ORPHA:93271
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Adrenal cortical sclerosis, Aplasia of the thymus, Diarrhea, Chronic...	OMIM:102700
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Feingold Syndrome	Esophageal atresia, Annular pancreas, Duodenal atresia	ORPHA:1305
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Leukocyte Adhesion Deficiency, Type I	Chronic diarrhea, Rectal abscess	OMIM:116920
Mandibulofacial Dysostosis, Guion-Almeida Type	Feeding difficulties in infancy, Esophageal atresia, Cleft palate	OMIM:610536
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Polyhydramnio...	OMIM:214800
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Oral-pharyngeal dysphagia, Feeding difficu...	ORPHA:506358
Rat-Bite Fever	Pericarditis, Myocarditis, Diarrhea, Vomiting, Pancreatitis, Parotitis	ORPHA:31205
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism, Aganglionic megacolon	OMIM:613266
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Japanese Encephalitis	Anorexia, Abdominal pain, Diarrhea, Vomiting, Inappropriate antidiuretic hormone secretion, Cereb...	ORPHA:79139
Pancreatoblastoma	Abdominal pain, Abdominal distention, Diarrhea, Vomiting, Pancreatic calcification	ORPHA:677
Abetalipoproteinemia	Congestive heart failure, Hypothyroidism, Chronic diarrhea, Vomiting, Steatorrhea, Fat malabsorpt...	ORPHA:14
Rothmund-Thomson Syndrome	Telangiectasia of the skin, Facial edema, Nasogastric tube feeding in infancy, Diarrhea, Vomiting...	ORPHA:2909
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diarrhea, Vomiting	ORPHA:3240
Agammaglobulinemia 1, Autosomal Recessive	Chronic diarrhea, Rectal abscess	OMIM:601495
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral ...	OMIM:305000
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Esophageal atresia, Tracheoesophage...	OMIM:192350
Ectodermal Dysplasia-Skin Fragility Syndrome	Urethral stricture, Abnormal tongue morphology, Chronic diarrhea, Hypohidrosis, Anoperineal fistula	ORPHA:158668
Riddle Syndrome	Conjunctival telangiectasia, Abdominal pain, Intraventricular hemorrhage, Diarrhea, Telangiectasi...	ORPHA:420741
Hypophosphatemic Rickets, X-Linked Dominant	Renal phosphate wasting, Renal tubular dysfunction, Elevated circulating parathyroid hormone level	OMIM:307800
Cystic Fibrosis	Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Gastroesoph...	ORPHA:586
Nijmegen Breakage Syndrome	Anal stenosis, Anorectal anomaly, Chronic diarrhea, Cleft palate, Pollakisuria, Anal atresia	ORPHA:647
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Chronic diarrhea	OMIM:600802
Feingold Syndrome 1	Jejunal atresia, Tricuspid stenosis, Polyhydramnios, Esophageal atresia, Gastrointestinal atresia...	OMIM:164280
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Esophageal atresia, Tracheoesophageal fistula, Feeding difficultie...	OMIM:301030
Maternal Phenylketonuria	Esophageal atresia, Abnormal renal morphology, High palate, Bladder exstrophy	ORPHA:2209
Immunodeficiency, Common Variable, 14	Chronic diarrhea	OMIM:617765
Neonatal Inflammatory Skin And Bowel Disease	Recurrent gastroenteritis, Anal fissure, Perianal dermatitis, Bloody diarrhea	ORPHA:294023
Aspartylglucosaminuria	Aspartylglucosaminuria, Diarrhea, Macroglossia, Mitral regurgitation, Macroorchidism	OMIM:208400
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, High palate, Micropenis, Pe...	OMIM:619503
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea	OMIM:619484
Farber Disease	Chronic diarrhea, Hydrops fetalis, Feeding difficulties, Joint swelling, Hepatic failure, Ascites	ORPHA:333
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Secretory diarrhea, Hyperhidrosis	OMIM:614441
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Esophageal varix, Feeding difficulties, Azoospermia, Pulmonary ...	ORPHA:2072
Immunodeficiency With Hyper-Igm, Type 1	Stomatitis, Diarrhea	OMIM:308230
Immunodeficiency 25	Protracted diarrhea	OMIM:610163
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Omphalocele Syndrome, Shprintzen-Goldberg Type	Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia	ORPHA:3164
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea	ORPHA:276
Omenn Syndrome	Diarrhea, Hypoplasia of the thymus	OMIM:603554
Leukocyte Adhesion Deficiency Type Ii	Recurrent urinary tract infections, Palpebral edema, Protruding tongue, Chronic diarrhea, Narrow ...	ORPHA:99843
Noonan Syndrome 1	Male infertility, Hypospadias, Lymphedema, Feeding difficulties in infancy, High, narrow palate, ...	OMIM:163950
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Chronic diarrhea, Aplasia of the thymus, Genital ulcers	OMIM:602450
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypertrophic cardiomyopathy, Esophageal varix, Portal hypertension	ORPHA:309854
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Recurrent infection of the gastrointestinal tract, Chronic diarrhea, Rectovaginal fistula	ORPHA:35078
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Chronic diarrhea, Abnormal s...	OMIM:208900
Nmda Receptor Encephalitis	Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular...	ORPHA:217253
Dyskeratosis Congenita, Autosomal Recessive 1	Esophageal stricture, Oral leukoplakia	OMIM:224230
Ectodermal Dysplasia And Immunodeficiency 2	Anhidrosis, Chronic diarrhea, Hypohidrosis, Aplasia of the sweat glands, Recurrent infection of t...	OMIM:612132
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Chronic diarrhea	ORPHA:169154
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Chronic diarrhea, Dermatan sulfate excretion in urine, Heart ...	ORPHA:217085
Chikungunya	Epistaxis, Raynaud phenomenon, Facial edema, Diarrhea, Pedal edema, Joint swelling, Vomiting	ORPHA:324625
T-Cell Immunodeficiency With Thymic Aplasia	Chronic diarrhea, Aplasia of the thymus	OMIM:242700
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Chronic diarrhea, Dermatan sulfate excretion in urine, Heart ...	ORPHA:217093
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Polyhydramnios, High, narrow palate, High palate, Gastroe...	OMIM:619472
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Polyhydramnios, Aplasia/Hypoplastia of the eccrine sweat gland...	ORPHA:1662
Congenital Tracheomalacia	Esophageal atresia, Tracheoesophageal fistula, Feeding difficulties, Gastroesophageal reflux, Pul...	ORPHA:95430
Diamond-Blackfan Anemia 21	Aortic regurgitation, Chronic diarrhea	OMIM:620072
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Transient ischemic attack, Gastroparesis, Unilateral renal agenesis, Bilatera...	ORPHA:500150
Immunodeficiency 36 With Lymphoproliferation	Chronic diarrhea	OMIM:616005
Immunodeficiency 47	Chronic diarrhea, Tricuspid regurgitation, Hypercholesterolemia, Exocrine pancreatic insufficiency	OMIM:300972
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Protracted diarrhea	ORPHA:331206
Cerebrotendinous Xanthomatosis	Increased serum lactate, Cholelithiasis, Chronic diarrhea, Hypothyroidism	ORPHA:909
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Diarrhea, Feeding difficulties	OMIM:618278
Mucopolysaccharidosis Type 2	Chronic diarrhea, Macroglossia, Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:580
Immunodeficiency 55	Diarrhea	OMIM:617827

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 Slc9a3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Slc9a3.

There are 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Slc9a3r2^{tm1a(EUCOMM)Wtsi} Slc9a3r2^{tm2a(EUCOMM)Hmgu}	PMC7263671
High-throughput phenotyping reveals expansive genetic and structural underpinnings of immune variation.	Nature immunology (December 2019)	Slc9a3r2^{tm2a(EUCOMM)Hmgu}	PMC7338221
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Slc9a3r2^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Slc9a3r2^{tm1a(EUCOMM)Wtsi}	PMC6459510
A high-throughput in vivo screening method in the mouse for identifying regulators of metastatic colonization.	Nature protocols (November 2017)	Slc9a3r2^{tm2a(EUCOMM)Hmgu}	29095442
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Slc9a3r2^{tm2a(EUCOMM)Hmgu}	PMC5827107

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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
Slc9a3^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Slc9a3^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Slc9a3^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Slc9a3 MGI:105064

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

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X-ray

Eye Morphology

Eye Morphology

X-ray

Human diseases caused by Slc9a3 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data