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Gene: Cldn17 MGI:2652030

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

claudin 17

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Cldn17 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 Cldn17 (0 diseases)
Human diseases predicted to be associated with Cldn17 (607 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Cldn17 by phenotypic similarity.

Disease	Matching phenotypes	Source
Central Diabetes Insipidus	Diarrhea, Polydipsia, Nocturia, Nausea and vomiting, Hyponatremia, Anorexia	ORPHA:178029
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Polydipsia, Hypernatremia,...	ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Vomiting, Polydipsia, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria, Short ...	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Vomiting, Polydipsia, Megacystis, Feeding difficulties in infancy, Constipation, Polyuria, Short ...	OMIM:304800
Nephronophthisis-Like Nephropathy 2	Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal ...	OMIM:619468
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Abnorm...	ORPHA:100924
Ochoa Syndrome	Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena...	ORPHA:2704
Type 1 Diabetes Mellitus	Polyphagia, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyuria	OMIM:222100
Nephronophthisis 9	Nephronophthisis, Polydipsia, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyu...	OMIM:613824
Corticosterone Methyloxidase Type I Deficiency	Vomiting, Hyponatremia, Feeding difficulties in infancy, Renal salt wasting, Hyperkalemia, Growth...	OMIM:203400
Cystinosis	Nephropathy, Aminoaciduria, Vomiting, Polydipsia, Malabsorption, Renal insufficiency, Renal tubul...	ORPHA:213
Hereditary Coproporphyria	Nephropathy, Dark urine, Increased urinary porphobilinogen, Abnormal circulating porphyrin concen...	ORPHA:79273
Juvenile Nephropathic Cystinosis	Renal phosphate wasting, Chronic kidney disease, Hypouricemia, Hypophosphatemia, Aminoaciduria, P...	ORPHA:411634
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Diarrhea, Vomiting, Hyponatremia, Feeding difficulties in infancy, Renal salt wasting, Hyperkalemia	OMIM:264350
Early-Onset Familial Hypoaldosteronism	Vomiting, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hyperkalemia, Feeding...	ORPHA:556030
Late-Onset Familial Hypoaldosteronism	Vomiting, Postnatal growth retardation, Renal sodium wasting, Hyponatremia, Hyperkalemia, Increas...	ORPHA:556037
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria	OMIM:606996
Renal Glucosuria	Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria	OMIM:233100
Distal Renal Tubular Acidosis	Diarrhea, Renal potassium wasting, Aminoaciduria, Polydipsia, Alkaline urine, Hypermagnesiuria, H...	ORPHA:18
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Polydipsia, Intrauterine growth retardation, Renal insufficiency, Decreased cir...	ORPHA:320
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Renal insufficiency, Nephrolithiasis,...	ORPHA:35710
East Syndrome	Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, ...	ORPHA:199343
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary...	ORPHA:93101
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Growth delay, Beta 2-microglobulinuria, Glyco...	ORPHA:97362
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Diarrhea, Vomiting, Glycosuria, Hypernatriuria, Polydipsia, Low-...	ORPHA:47159
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Vomiting, Polydipsia, Growth delay, Hypomagnese...	OMIM:263800
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria	OMIM:620152
Hereditary Central Diabetes Insipidus	Diarrhea, Vomiting, Polydipsia, Growth delay	ORPHA:30925
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Infantile Nephropathic Cystinosis	Aminoaciduria, Vomiting, Polydipsia, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphatu...	ORPHA:411629
Familial Hypoaldosteronism	Diarrhea, Nausea and vomiting, Hyponatremia, Decreased urinary potassium, Proximal renal tubular ...	ORPHA:427
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Polydipsia, Hyperphosphaturia, Feeding difficulties in infancy, Hypercalciuria, Co...	OMIM:239200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Polydipsia, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal...	OMIM:602522
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Feeding difficulties in infancy, Macroscopi...	OMIM:248250
Nephronophthisis 1	Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Growth delay, Stage 5 chr...	OMIM:256100
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level	OMIM:610600
Variegate Porphyria	Vomiting, Increased urinary porphobilinogen, Porphyrinuria, Abdominal pain, Constipation, Elevate...	OMIM:176200
Senior-Loken Syndrome 1	Nephronophthisis, Polydipsia, Elevated circulating creatinine concentration, Stage 5 chronic kidn...	OMIM:266900
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Snakebite Envenomation	Acute kidney injury, Neuromuscular dysphagia, Vomiting, Diarrhea, Pseudobulbar paralysis, Hyponat...	ORPHA:449285
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Polydipsia, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Salt crav...	OMIM:612780
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon...	OMIM:613845
Nephronophthisis 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R...	OMIM:604387
Acute Intermittent Porphyria	Diarrhea, Urinary retention, Pseudobulbar paralysis, Dark urine, Increased urinary porphobilinoge...	ORPHA:79276
Nephronophthisis 4	Nephronophthisis, Polydipsia, Growth delay, Stage 5 chronic kidney disease, Renal corticomedullar...	OMIM:606966
Hyperaldosteronism, Familial, Type Iii	Polydipsia, Decreased circulating renin level, Hypokalemia, Hypercalciuria, Polyuria	OMIM:613677
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Diarrhea,...	OMIM:241200
Liddle Syndrome	Nephropathy, Constipation, Renal insufficiency, Hypokalemia	ORPHA:526
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Diarrhea,...	OMIM:601678
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Xerostomia, Polydipsia, Renal insufficiency, Nephrolithiasis, Hyp...	OMIM:617671
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Feeding difficulties	OMIM:143860
Primary Unilateral Adrenal Hyperplasia	Polydipsia, Increased urinary potassium, Decreased circulating renin level, Hypokalemia, Nausea	ORPHA:231580
Familial Hyperaldosteronism Type Iii	Hypokalemia, Nausea, Hypercalciuria, Polydipsia	ORPHA:251274
Kleine-Levin Syndrome	Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ...	ORPHA:33543
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re...	ORPHA:2260
Familial Glucocorticoid Deficiency	Diarrhea, Vomiting, Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Episodic ab...	ORPHA:361
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Ileus, Abnormal circulating porphyrin ...	ORPHA:79473
Cholera	Acute kidney injury, Diarrhea, Vomiting, Abnormal blood ion concentration, Hypocalcemia, Hypokale...	ORPHA:173
Acute Adrenal Insufficiency	Diarrhea, Renal insufficiency, Nausea and vomiting, Hyperuricemia, Hyponatremia, Salt craving, De...	ORPHA:95409
Shigellosis	Acute kidney injury, Hepatic failure, Vomiting, Tenesmus, Ulcerative colitis, Urethritis, Acute c...	ORPHA:810
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Hyponatremia, Hyperkalemia, Feeding difficulties, Increased circulating renin...	OMIM:177735
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Vomiting, Nasogastric tube feeding...	ORPHA:89938
Legionnaires Disease	Diarrhea, Renal insufficiency, Nausea and vomiting, Hematuria, Proteinuria, Hyponatremia, Anorexi...	ORPHA:549
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Gastroesophageal reflux, Growth delay, Renal a...	OMIM:617913
Colchicine Poisoning	Diarrhea, Vomiting, Oliguria, Hypomagnesemia, Abnormal blood ion concentration, Renal insufficien...	ORPHA:31824
Coproporphyria, Hereditary	Diarrhea, Vomiting, Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Abd...	OMIM:121300
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Hypoadrenocorticism, Familial	Hyponatremia, Feeding difficulties in infancy, Vomiting, Hyperkalemia	OMIM:240200
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Dysphagia, Aminoacidu...	OMIM:219800
Diarrhea 1, Secretory Chloride, Congenital	Secretory diarrhea, Hypokalemia, Hyponatremia, Abdominal distention, Growth delay, Hypochloremia,...	OMIM:214700
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Polydipsia, Nephrolithiasis, Polyuria, Hypercalcemia	OMIM:617994
Infant Botulism	Xerostomia, Hyponatremia, Constipation, Anorexia, Abdominal pain, Dysphagia, Bowel incontinence	ORPHA:178478
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Polydipsia, Renal hamartoma, Hypercalcemia, Renal insufficiency, Nausea and vom...	ORPHA:99880
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,...	ORPHA:84081
Hypothyroidism, Congenital, Nongoitrous, 8	Attention deficit hyperactivity disorder, Constipation, Hypercholesterolemia	OMIM:301033
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Vomiting, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C...	ORPHA:84085
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Nausea, Polydipsia, Nephrolithiasis	ORPHA:369929
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Growth delay, Stage 5 chr...	OMIM:613550
Parathyroid Carcinoma	Nephrocalcinosis, Polydipsia, Renal hamartoma, Hypercalcemia, Renal insufficiency, Nausea and vom...	ORPHA:143
Senior-Loken Syndrome 3	Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu...	OMIM:606995
Propionic Acidemia	Hyperammonemia, Constipation, Organic aciduria	ORPHA:35
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Wolcott-Rallison Syndrome	Chronic kidney disease, Hypoalbuminemia, Exocrine pancreatic insufficiency, Acute hepatic failure...	ORPHA:1667
Familial Hyperaldosteronism Type I	Hypokalemia, Nausea, Polydipsia	ORPHA:403
Neuroleptic Malignant Syndrome	Acute kidney injury, Vomiting, Hyperphosphatemia, Hypernatremia, Nasogastric tube feeding, Hypoma...	ORPHA:94093
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia	OMIM:614736
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hematochezia, Secretory diarrhea, Hypomagnesemia, Hypocalcemia, Hyponatremia, Po...	OMIM:618183
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Bardet-Biedl Syndrome 9	Polyphagia, Polydipsia, Renal insufficiency	OMIM:615986
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome	Aggressive behavior, Constipation, Agitation, Feeding difficulties	ORPHA:468620
Hyperkalemic Periodic Paralysis	Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Feeding difficulti...	ORPHA:682
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Unconjugated hyperbilirubinemia, Acute colitis, ...	ORPHA:90038
Generalized Pseudohypoaldosteronism Type 1	Vomiting, Proportionate short stature, Hyponatremia, Feeding difficulties in infancy, Hyperkalemi...	ORPHA:171876
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperammonemia, Chronic constipation, Attention deficit hyperactivity disorder, Hypercholesterole...	OMIM:620211
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ...	ORPHA:93111
Mirage Syndrome	Gastroesophageal reflux, Hyperkalemia, Microphallus, Recurrent urinary tract infections, Intraute...	OMIM:617053
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia, Addictive alcohol use, Nause...	ORPHA:1930
Diastasis Recti And Weakness Of The Linea Alba	Constipation	OMIM:612198
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Chronic constipation, Hyperuricemi...	ORPHA:261222
Addison Disease	Diarrhea, Nausea and vomiting, Hyperuricemia, Hyponatremia, Salt craving, Decreased urinary potas...	ORPHA:85138
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Paroxysmal Extreme Pain Disorder	Constipation	ORPHA:46348
Intellectual Developmental Disorder, X-Linked 99	Gastroesophageal reflux, Intrauterine growth retardation, Chronic constipation, Aggressive behavi...	OMIM:300919
Aica-Ribosiduria Due To Atic Deficiency	Hyponatremia, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level	OMIM:608688
Gitelman Syndrome	Diarrhea, Nausea and vomiting, Urinary incontinence, Abdominal pain, Tubulointerstitial nephritis...	ORPHA:358
Malonyl-Coa Decarboxylase Deficiency	Diarrhea, Elevated urine suberic acid level, Methylmalonic aciduria, Vomiting, Chronic constipati...	OMIM:248360
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Malabsorption, Hyponatremia, Anorexia, Abdomin...	ORPHA:3452
Panhypophysitis	Polydipsia, Hyponatremia, Hyposthenuria, Nausea, Poor appetite	ORPHA:95513
Familial Cold Urticaria	Abdominal pain, Polydipsia, Nausea and vomiting	ORPHA:47045
Alg8-Cdg	Vomiting, Diarrhea, Intrauterine growth retardation, Hyponatremia, Feeding difficulties	ORPHA:79325
Bardet-Biedl Syndrome 17	Polydipsia, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis	OMIM:615994
Hypophosphatasia, Infantile	Nephrocalcinosis, Vomiting, Disproportionate short-limb short stature, Phosphoethanolaminuria, El...	OMIM:241500
Necrotizing Enterocolitis	Diarrhea, Vomiting, Hypoactive bowel sounds, Hyponatremia, Peritonitis, Abdominal rigidity, Abdom...	ORPHA:391673
Adrenal Hypoplasia, Congenital	Hyponatremia, Renal salt wasting, Delayed puberty	OMIM:300200
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Lysosomal Acid Lipase Deficiency	Hepatic failure, Diarrhea, Vomiting, Hypernatriuria, Decreased liver function, Malnutrition, Abno...	ORPHA:275761
Congenital Sucrase-Isomaltase Deficiency	Vomiting, Diarrhea, Abdominal colic, Gastroesophageal reflux, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Diarrhea, Anuria, Vomiting, Secretory diarrhea, Acute colitis, Gas...	ORPHA:544482
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Wolfram Syndrome	Nephropathy, Gastrointestinal hemorrhage, Abnormality of the urinary system, Polydipsia, Recurren...	ORPHA:3463
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria	ORPHA:95626
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Growth delay, Polyphagia, Paroxysmal bursts of laughter, Constipation, H...	ORPHA:228402
Attrv30M Amyloidosis	Nephropathy, Constipation, Diarrhea, Abnormal renal physiology	ORPHA:85447
Xq28 (MECP2) duplication	Gastroesophageal reflux, Functional abnormality of the bladder, Motor stereotypy, Feeding difficu...	DECIPHER:45
Familial Dysautonomia	Gastroesophageal reflux, Renal insufficiency, Hyponatremia, Glomerulopathy, Feeding difficulties ...	ORPHA:1764
Hijazi-Reis Syndrome	Gastroesophageal reflux, Postnatal growth retardation, Hyperbilirubinemia, Chronic constipation, ...	OMIM:301094
Septo-Optic Dysplasia Spectrum	Short stature, Hypoplasia of penis, Constipation, Polydipsia	ORPHA:3157
Generalized Pustular Psoriasis	Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive...	ORPHA:247353
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Diarrhea, Vomiting, Renal insufficiency, Hyperuricemia, ...	ORPHA:469
Foxg1 Syndrome	Gastroesophageal reflux, Bruxism, Stereotypical hand wringing, Severe postnatal growth retardatio...	ORPHA:561854
Webb-Dattani Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria...	OMIM:615926
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, Vo...	OMIM:308940
Sandhoff Disease, Juvenile Form	Urinary incontinence, Diarrhea, Dysphagia, Constipation	ORPHA:309162
Secondary Short Bowel Syndrome	Vomiting, Diarrhea, Malnutrition, Malabsorption, Polyphagia, Small intestinal dysmotility, Entero...	ORPHA:95427
Late-Onset Isolated Acth Deficiency	Diarrhea, Nausea and vomiting, Hyperuricemia, Hyponatremia, Constipation, Anorexia, Abdominal pai...	ORPHA:199299
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Constipati...	OMIM:236730
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Postnatal growth retardation, Hypocalcemia	OMIM:615361
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Vomiting, Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, I...	ORPHA:90791
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Nausea and vomiting	ORPHA:83601
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Feeding difficulties	OMIM:620157
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas...	OMIM:267700
Squalene Synthase Deficiency	Elevated urine mesaconic acid level, Hypocholesterolemia, Intrauterine growth retardation, Gastro...	OMIM:618156
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Pediatric-Onset Graves Disease	Diarrhea, Polydipsia, Intrauterine growth retardation, Nausea and vomiting, Polyphagia, Hyperacti...	ORPHA:525731
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Gastrointestinal hemorrhage, Polydipsia, Growth delay, Recurrent u...	ORPHA:731
Smith-Magenis Syndrome	Abnormality of the urinary system, Head-banging, Onychotillomania, Self-mutilation, Abnormal rena...	OMIM:182290
Oculocerebrorenal Syndrome Of Lowe	Hematuria, Feeding difficulties in infancy, Hypophosphatemia, Proximal renal tubular acidosis, Mo...	ORPHA:534
Rabson-Mendenhall Syndrome	Nephrocalcinosis, Long penis, Polydipsia, Intrauterine growth retardation, Hypokalemia, Severe po...	ORPHA:769
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Self-injurious behavior, Bruxism, Inappropriate laughter, Stereotypical hand wringing, Constipati...	OMIM:614254
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
Pyruvate Carboxylase Deficiency	Abnormal temper tantrums, Neonatal hyperbilirubinemia, Vomiting, Recurrent hand flapping, Hyperam...	ORPHA:3008
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Vomiting, Decreased glomerular filtrat...	ORPHA:94088
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Vomiting, Abnormal circulating cholesterol concentration, Hypernatriuria, A...	ORPHA:168558
Adenohypophysitis	Hyponatremia, Nausea, Hyposthenuria, Poor appetite	ORPHA:95512
Narcolepsy Type 1	Restless legs, Attention deficit hyperactivity disorder, Constipation, Nocturia, Restlessness	ORPHA:2073
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Vomiting, Abnormal circulating cholesterol concentration, Hypernatriuria, A...	ORPHA:289548
Foxp1 Syndrome	Decreased circulating iron concentration, Attention deficit hyperactivity disorder, Constipation,...	ORPHA:391372
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Abnormality of the urethra, Polydipsia, Acute hepatic failure, Malab...	ORPHA:537
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ...	ORPHA:49041
Glutathionuria	Urinary incontinence, Constipation, Glutathionuria	OMIM:231950
Arima Syndrome	Nephronophthisis, Polydipsia, Growth delay, Stage 5 chronic kidney disease, Renal sodium wasting,...	OMIM:243910
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Gastroesophageal reflux, Vomiting, Elevated circulating creatinine concentration, Feedi...	OMIM:223900
Neurodevelopmental Disorder With Dystonia And Seizures	Self-injurious behavior, Intrauterine growth retardation, Constipation, Feeding difficulties	OMIM:619922
Intellectual Developmental Disorder With Autism And Macrocephaly	Pica, Constipation, Recurrent hand flapping	OMIM:615032
Thyrotropin-Releasing Hormone Deficiency	Short stature, Constipation	OMIM:275120
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Attention deficit hyperactivity disorder,...	ORPHA:3375
Chromosome 19P13.13 Deletion Syndrome	Self-injurious behavior, Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Schaaf-Yang Syndrome	Gastroesophageal reflux, Polyphagia, Skin-picking, Constipation, Impulsivity, Micropenis, Short s...	OMIM:615547
Propionic Acidemia	Hyperglycinuria, Vomiting, Increased level of hippuric acid in urine, Hyperglycinemia, Hyperammon...	OMIM:606054
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Growth delay, Chronic constipation, Proteinuria, Motor stereotypy, Glomerular sclerosis, Glomerul...	OMIM:619428
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Constipation, Feeding difficulties	OMIM:620094
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Growth delay, Congenital nephrotic syndrome, Renal insu...	OMIM:256300
Parkinson Disease 22, Autosomal Dominant	Constipation, Restless legs	OMIM:616710
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Patent urachus, Vomiting	OMIM:618252
Combined Oxidative Phosphorylation Deficiency 32	Gastroesophageal reflux, Horseshoe kidney, Constipation, Dysphagia, Feeding difficulties	OMIM:617664
Athyreosis	Constipation, Abdominal distention, Short stature, Growth delay, Feeding difficulties	ORPHA:95713
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Hyperactivity, Polyuria, ...	OMIM:618314
Sheehan Syndrome	Hyponatremia, Constipation, Hyposthenuria, Nausea, Poor appetite	ORPHA:91355
Adiposis Dolorosa	Constipation, Abdominal distention	OMIM:103200
Cerebral Creatine Deficiency Syndrome 1	Vomiting, Ileus, Aggressive behavior, Feeding difficulties in infancy, Constipation, Attention de...	OMIM:300352
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Botulism	Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation, Abdominal pain, Dysph...	ORPHA:1267
Lead Poisoning	Chronic kidney disease, Vomiting, Abdominal distention, Decreased HDL cholesterol concentration, ...	ORPHA:330015
Solitary Rectal Ulcer Syndrome	Hematochezia, Tenesmus, Chronic constipation, Episodic abdominal pain, Compulsive behaviors, Abdo...	ORPHA:209964
Alg12-Cdg	Hypoalbuminemia, Gastroesophageal reflux, Hypocholesterolemia, Intrauterine growth retardation, G...	ORPHA:79324
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Abnormal circulating thyroglobulin concentration, Constipation, Conjugated hyperbilirubinemia, Fe...	ORPHA:95715
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Self-injurious behavior, Polydipsia, Hyperlipidemia, Hyponatremia, Polyphagia, Gastrointestinal d...	ORPHA:293987
Spastic Paraplegia 54, Autosomal Recessive	Constipation, Dysphagia, Urinary incontinence, Short stature, Bowel incontinence	OMIM:615033
Infantile Dystonia-Parkinsonism	Abnormal circulating carboxylic acid concentration, Gastroesophageal reflux, Feeding difficulties...	ORPHA:238455
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Postnatal growth retardation, Hypocalcemia, Nephrolithiasis, Polyphagia, Fe...	OMIM:606407
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Malnutrition, Malabsorption, Gastrointestinal dysmotility, Constip...	OMIM:613662
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat...	OMIM:603553
Foodborne Botulism	Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation, Abdominal pain, Dysph...	ORPHA:228371
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Gastroesophageal reflux, Attention deficit hyperactivity disorder, Feeding difficulties in infanc...	ORPHA:589905
Jansen-De Vries Syndrome	Vomiting, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipation, Compul...	OMIM:617450
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Encopresis, Constipation, Dysphagia, Hyperactivity, Abdominal ...	ORPHA:589821
Ddost-Cdg	Nephrotic range proteinuria, Gastroesophageal reflux, Short stature, Constipation	ORPHA:300536
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Growth delay, Renal atrophy, Vesicoureteral reflux, Aggressive behavior, Feeding difficulties in ...	OMIM:618659
Hirschsprung Disease	Diarrhea, Functional abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal o...	ORPHA:388
Congenital Isolated Acth Deficiency	Hyponatremia	ORPHA:199296
Visceral Myopathy 1	Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Malnutrition, G...	OMIM:155310
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Smith-Magenis Syndrome	Self-injurious behavior, Gastroesophageal reflux, Abnormality of the ureter, Renal hypoplasia/apl...	ORPHA:819
Desanto-Shinawi Syndrome	Feeding difficulties, Aggressive behavior, Attention deficit hyperactivity disorder, Constipation...	OMIM:616708
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Fg Syndrome 2	Constipation	OMIM:300321
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Gastroesophageal reflux, Postnatal growth retardation, Intrauterine growth retardation, Constipat...	OMIM:615419
Erdheim-Chester Disease	Polydipsia, Nausea and vomiting, Renal insufficiency, Hydronephrosis, Abdominal pain, Dysuria	ORPHA:35687
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Urinary retention, Paralytic ileus, Nausea, Abdominal pain, Constipation, Uri...	OMIM:176000
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Vomiting, Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium...	OMIM:241150
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem...	OMIM:201810
Intellectual Developmental Disorder, Autosomal Dominant 51	Fixated interests, Recurrent hand flapping, Chronic constipation, Aggressive behavior, Attention ...	OMIM:617788
Japanese Encephalitis	Vomiting, Diarrhea, Hyponatremia, Anorexia, Abdominal pain	ORPHA:79139
X-Linked Creatine Transporter Deficiency	Ileus, Self-mutilation, Constipation, Hyperactivity, Abnormal circulating creatine concentration,...	ORPHA:52503
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Intellectual Developmental Disorder, Autosomal Recessive 76	Self-injurious behavior, Feeding difficulties, Chronic constipation	OMIM:619931
Liver Disease, Severe Congenital	Diarrhea, Hyperbilirubinemia, Abdominal distention, Hypospadias, Hypoproteinemia, Aminoaciduria, ...	OMIM:619991
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Short stature, Pica, Constipation, Recurrent hand flapping	OMIM:618480
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Constipation, Short stature, Dysphagia, Feeding difficulties	ORPHA:35708
Combined Oxidative Phosphorylation Deficiency 3	Intrauterine growth retardation, Hyperammonemia, Elevated circulating creatine kinase concentrati...	OMIM:610505
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Vomiting, Hypernatriuria, Hyperkalemia, Hyponatremia, Urogenital sinus anomaly, Short...	ORPHA:90794
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Postnat...	OMIM:227810
Coffin-Siris Syndrome 6	Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipation, Short stature, T...	OMIM:617808
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Constipation, Neonatal hyperbilirubinemia	ORPHA:95717
Rabin-Pappas Syndrome	Hyponatremia, Feeding difficulties	OMIM:620155
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Elevated circulating deoxyuridine concentration, Diarrhea, Vomiting, Intestinal ps...	OMIM:603041
Iatrogenic Botulism	Dysphagia, Constipation, Xerostomia, Urinary retention	ORPHA:254509
Rauch-Steindl Syndrome	Bilateral renal hypoplasia, Hyperechogenic kidneys, Exocrine pancreatic insufficiency, Postnatal ...	OMIM:619695
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Optic Atrophy 11	Stereotypical body rocking, Attention deficit hyperactivity disorder, Constipation, Hyperactivity...	OMIM:617302
Alpha-N-Acetylgalactosaminidase Deficiency	Gastroesophageal reflux, Oligosacchariduria, Constipation	ORPHA:3137
Seizures-Scoliosis-Macrocephaly Syndrome	Nausea, Gastroesophageal reflux, Abnormality of the kidney, Constipation	ORPHA:466926
Congenital Disorder Of Glycosylation, Type Iit	Hypotriglyceridemia, Decreased serum creatinine, Constipation, Decreased HDL cholesterol concentr...	OMIM:618885
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Gastroesophageal reflux, Horseshoe k...	OMIM:301111
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Postnatal growth retardation, Intrauterine growth retardation, Hypercalcemia, Hypercalciuria, Mic...	OMIM:614732
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Chronic constipation, Hydronephrosis, Attention deficit hyperactivity ...	OMIM:609757
Neuroendocrine Tumor Of The Rectum	Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Melena, Lack of bowel sounds, Tenesmus, Hypoactive bowel sounds, Protracted diarrhe...	ORPHA:100082
Peroxisome Biogenesis Disorder 8B	Elevated circulating phytanic acid concentration, Constipation, Dysphagia, Decreased liver function	OMIM:614877
Holoprosencephaly	Abnormality of the urinary system, Gastroesophageal reflux, Proteinuria, Hyponatremia, Feeding di...	ORPHA:2162
Wound Botulism	Constipation, Dysphagia, Urinary retention	ORPHA:178475
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Vomiting, Hyperkalemia	ORPHA:90790
Polymyositis	Gastrointestinal hemorrhage, Gastroesophageal reflux, Elevated circulating creatine kinase concen...	ORPHA:732
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Hypoalbuminemia, Decreased circulating iron concentration, Gastroesophageal reflux, Growth delay,...	ORPHA:89842
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Vomiting, Gastroesophageal reflux, Hypokalemia, Hyponatremia, Feeding difficulties, Poor suck	OMIM:618426
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypoalbuminemia, Malabsorption, Eosinophilic infiltration of the esophagus, Growth delay, Hyperna...	OMIM:615508
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Postn...	OMIM:309000
Acute Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Feeding difficulties	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypoalbuminemia, Neonatal hyperbilirubinemia, Hypernatremia, Feeding difficulties	ORPHA:529808
Hirschsprung Disease, Susceptibility To, 1	Vomiting, Abdominal distention, Enterocolitis, Constipation	OMIM:142623
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydronephrosis, Constipatio...	OMIM:618494
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
48,Xxyy Syndrome	Gastroesophageal reflux, Feeding difficulties in infancy, Constipation, Attention deficit hyperac...	ORPHA:10
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Inappropriate laughter, Intrauterine growth retardation, Obsessive-compulsive trait, Chronic cons...	ORPHA:363686
Volvulus Of Midgut	Neonatal intestinal obstruction, Constipation, Abdominal distention	OMIM:193250
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Attention deficit hyperactivity disorder, Motor stereotypy, Chronic constipation	OMIM:618906
Developmental And Epileptic Encephalopathy 90	Abdominal pain, Constipation, Fetal pyelectasis	OMIM:301058
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Short stature, Constipation	ORPHA:2349
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain	ORPHA:160148
Primary Peritoneal Carcinoma	Nausea and vomiting, Peritonitis, Constipation, Abdominal distention, Abdominal pain	ORPHA:168829
Familial Mediterranean Fever	Diarrhea, Renal amyloidosis, Vomiting, Stage 5 chronic kidney disease, Chronic constipation, Croh...	OMIM:249100
Argininemia	Vomiting, Oroticaciduria, Postnatal growth retardation, Hyperammonemia, Hyperargininemia, Hyperac...	OMIM:207800
Fatal Familial Insomnia	Constipation, Dysphagia, Urinary retention	OMIM:600072
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Gastroesophageal reflux, Stereotypical body rocking, Tongue thrusting, Constipation, Hyperactivit...	OMIM:617865
Visceral Myopathy 2	Gastroesophageal reflux, Intestinal pseudo-obstruction, Megacystis, Gastroparesis, Esophagitis, I...	OMIM:619350
Coffin-Siris Syndrome 7	Constipation, Short stature, Hyperactivity, Compulsive behaviors, Severe temper tantrums, Motor s...	OMIM:618027
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A...	ORPHA:26790
Kleefstra Syndrome	Self-injurious behavior, Gastroesophageal reflux, Vesicoureteral reflux, Renal insufficiency, Sel...	ORPHA:261494
Spastic Paraplegia 20, Autosomal Recessive	Short stature, Dysphagia, Urinary urgency, Chronic constipation	OMIM:275900
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Chronic constipation, Aggressive behavior, Attention deficit hyperact...	OMIM:618825
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas...	ORPHA:3337
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal temper tantrums, Gastroesophageal reflux, Nasogastric tube feeding, Oral aversion, Abnor...	ORPHA:329224
Spastic Paraplegia 44, Autosomal Recessive	Urinary incontinence, Constipation	OMIM:613206
Rheumatic Fever	Nausea and vomiting, Abdominal pain, Constipation, Anorexia, Nephrotic syndrome	ORPHA:3099
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Decreased liver function, Feeding difficulties, Hyperglycinemia, Impulsivity, Hype...	OMIM:620423
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Chronic constipation, Gastrostomy tube feeding in infancy, Compulsive behaviors, S...	ORPHA:476126
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Gastroesophageal reflux, Abnormality of the ureter, Renal hypo...	ORPHA:1834
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Self-injurious behavior, Feeding difficulties, Chronic constipation, Recurrent urinary tract infe...	OMIM:618707
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Gastroesophageal reflux, Vomiting, Horseshoe kidney, Postnatal growth retardation, Intrauterine g...	ORPHA:96182
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Intrauterine growth retardation, Con...	ORPHA:73246
Inhalational Botulism	Diarrhea, Xerostomia, Urinary retention, Nausea and vomiting, Constipation	ORPHA:254504
13Q12.3 Microdeletion Syndrome	Vomiting, Intrauterine growth retardation, Self-mutilation, Constipation, Hyperactivity, Short st...	ORPHA:412035
Intellectual Developmental Disorder, Autosomal Dominant 1	Self-injurious behavior, Gastroesophageal reflux, Bruxism, Inappropriate laughter, Postnatal grow...	OMIM:156200
Solitary Fibrous Tumor	Hypophosphatemic rickets, Constipation, Reduced C-peptide level, Urinary retention	ORPHA:2126
19P13.3 Microduplication Syndrome	Self-injurious behavior, Gastroesophageal reflux, Intrauterine growth retardation, Constipation, ...	ORPHA:447980
Pituitary Apoplexy	Hyponatremia, Nausea and vomiting	ORPHA:95613
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Angelman Syndrome	Self-injurious behavior, Vomiting, Gastroesophageal reflux, Nasogastric tube feeding, Delayed men...	ORPHA:72
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Abnormal temper tantrums, Gastroesophageal reflux, Obsessive-compulsive trait, Chronic constipati...	ORPHA:500055
Hypothyroidism, Congenital, Nongoitrous, 6	Constipation, Growth delay	OMIM:614450
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Aggressive behavior, Constipation, Hyperactivity, Compulsive behaviors, Motor stereotypy, Feeding...	OMIM:618430
Fg Syndrome 5	Hypospadias, Chronic constipation	OMIM:300581
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin concentration, Feeding difficulties in infancy, Constipation, ...	ORPHA:95716
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Constipation, Tongue t...	ORPHA:98794
Microcephaly 27, Primary, Autosomal Dominant	Micropenis, Chronic constipation	OMIM:619180
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Gastroesophageal reflux, Postnatal growth retardation, Esophagitis, Hypospadias, F...	ORPHA:79350
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Elevated circulating creatine kinase concentration, Constipation, Urinary incontinence, Growth de...	OMIM:617193
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Gastroesophageal reflux, Growth delay, Bruxism, Chronic constipation, Motor stereotypy, Repetitiv...	OMIM:300260
Schuurs-Hoeijmakers Syndrome	Aggressive behavior, Constipation, Feeding difficulties	OMIM:615009
Nizon-Isidor Syndrome	Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Feeding d...	OMIM:618872
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Intrauterine growth retardation, Constipation	OMIM:604320
Pituitary Dermoid And Epidermoid Cysts	Polydipsia, Nausea and vomiting	ORPHA:91351
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Neurogenic bladder, Growth delay, Constipation	ORPHA:466934
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Constipation	OMIM:273390
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Self-injurious behavior, Intrauterine growth retardation, Constipation, Short stature, Nasogastri...	ORPHA:371364
Chédiak-Higashi Syndrome	Decreased liver function, Increased circulating ferritin concentration, Hyponatremia, Hypertrigly...	ORPHA:167
Intellectual Disability-Strabismus Syndrome	Gastroesophageal reflux, Medullary nephrocalcinosis, Intrauterine growth retardation, Chronic con...	ORPHA:363528
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Growth delay, Chronic constipation, Elevated circulating creatine kinase concentration, Motor ste...	ORPHA:496641
Auriculocondylar Syndrome 2B	Postnatal growth retardation, Feeding difficulties, Long penis, Chronic constipation	OMIM:620458
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Self-injurious behavior, Gastroesophageal reflux, Recurrent hand flapping, Chronic constipation, ...	OMIM:300986
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con...	OMIM:620366
Temple-Baraitser Syndrome	Gastroesophageal reflux, Constipation	OMIM:611816
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Growth delay, Intrauterine ...	ORPHA:96170
Parkinson Disease, Late-Onset	Constipation, Dysphagia, Urinary urgency	OMIM:168600
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Aggressive behavior, Attention deficit hyperactivity disorder, Constipation, Feeding difficulties	ORPHA:284169
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Vomiting, Hydroureter, Ureterocele, Urinary retention, Recurrent ur...	ORPHA:79404
Autosomal Recessive Spastic Paraplegia Type 20	Growth delay, Hydronephrosis, Constipation, Dysphagia, Short stature, Dysuria	ORPHA:101000
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Constipatio...	ORPHA:79102
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Recurrent urinary tract inf...	OMIM:609029
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Short stature, Aggressive behavior, Feeding difficulties, Chronic constipation	OMIM:619056
49,Xxxxy Syndrome	Gastroesophageal reflux, Overfriendliness, Renal hypoplasia/aplasia, Attention deficit hyperactiv...	ORPHA:96264
Pure Autonomic Failure	Urinary incontinence, Constipation, Dysuria	ORPHA:441
Thyroid Dyshormonogenesis 1	Constipation, Growth delay	OMIM:274400
Autosomal Recessive Dopa-Responsive Dystonia	Constipation, Feeding difficulties	ORPHA:101150
Silver-Russell Syndrome	Abnormality of the urinary system, Gastroesophageal reflux, Postnatal growth retardation, Intraut...	ORPHA:813
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Intractable diarrhea, Vomiting, Diarrhea, Bowel irritability, Crohn's disease, C...	OMIM:619381
White-Sutton Syndrome	Self-injurious behavior, Gastroesophageal reflux, Intrauterine growth retardation, Overfriendline...	OMIM:616364
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Constipation, Feeding difficulties	OMIM:616801
Ppoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97278
Intellectual Developmental Disorder, Autosomal Dominant 61	Attention deficit hyperactivity disorder, Chronic constipation	OMIM:618009
Developmental And Epileptic Encephalopathy 47	Agitation, Feeding difficulties, Chronic constipation	OMIM:617166
Congenital Disorder Of Glycosylation, Type Ir	Gastroesophageal reflux, Decreased liver function, Chronic constipation	OMIM:614507
Pontocerebellar Hypoplasia, Type 8	Gastroesophageal reflux, Dysphagia, Feeding difficulties, Constipation	OMIM:614961
Microcephaly 26, Primary, Autosomal Dominant	Chronic constipation, Stereotypical hand wringing, Hydronephrosis, Short stature, Feeding difficu...	OMIM:619179
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, High nonceruloplasmin-bound serum copper, Gastrostomy tube feeding in in...	ORPHA:457351
Young-Onset Parkinson Disease	Diarrhea, Gastroparesis, Restless legs, Impulsivity, Constipation, Nausea, Agitation	ORPHA:2828
Chromosome Xq13 Duplication Syndrome	Intrauterine growth retardation, Chronic constipation, Aggressive behavior, Attention deficit hyp...	OMIM:301069
Fg Syndrome 3	Feeding difficulties, Hyperactivity, Chronic constipation	OMIM:300406
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Gastroesophageal reflux, Recurrent urinary tract infections, Nausea and ...	ORPHA:847
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Constipation, Bowel incontinence, Pseudobulbar paralysis	OMIM:169500
Niemann-Pick Disease, Type A	Vomiting, Feeding difficulties in infancy, Constipation, Protuberant abdomen, Short stature	OMIM:257200
Radio-Tartaglia Syndrome	Gastroesophageal reflux, Aggressive behavior, Attention deficit hyperactivity disorder, Constipat...	OMIM:619312
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, Growth delay, Renal agenesis, Postnatal growth retardation, Hydronephros...	OMIM:301040
Peritoneal Cystic Mesothelioma	Abdominal pain, Peritonitis, Constipation, Abdominal distention	ORPHA:168816
Typhoid	Abdominal pain, Gastrointestinal hemorrhage, Diarrhea, Constipation	ORPHA:99745
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Chronic constipation	OMIM:618060
Neuropathy, Hereditary Sensory And Autonomic, Type V	Urinary incontinence, Diarrhea, Constipation	OMIM:608654
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Gastroesophageal reflux, Intrauterine growth retardation, Constipation, Episodic vomiting, Short ...	OMIM:617360
Rett Syndrome	Gastroesophageal reflux, Bruxism, Stereotypical hand wringing, Constipation, Short stature	OMIM:312750
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia	ORPHA:293978
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Intrauterine growth retardation, Aggressive behavior, Constipation,...	OMIM:605130
Toxin-Mediated Infectious Botulism	Constipation, Dysphagia	ORPHA:230800
Intellectual Developmental Disorder, Autosomal Dominant 43	Gastroesophageal reflux, Feeding difficulties, Chronic constipation, Aggressive behavior, Hyperac...	OMIM:616977
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Diarrhea, Acute hepatic failure, Gastrointestinal infarctions, Mal...	ORPHA:342
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroparesis, Elevated circulating creatine kinase concentration, Gastroesophageal reflux, Const...	OMIM:610131
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Feeding difficulties in in...	ORPHA:90674
Multiple Endocrine Neoplasia Type 2	Diarrhea, Elevated urinary norepinephrine level, Elevated urinary vanillylmandelic acid, Nephroli...	ORPHA:653
Lipodystrophy, Congenital Generalized, Type 4	Ileus, Elevated circulating creatine kinase concentration, Constipation, Hypertriglyceridemia, Dy...	OMIM:613327
Infantile Neuroaxonal Dystrophy	Choking episodes, Constipation, Hyperactivity, Impulsivity	ORPHA:35069
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Short stature, Gastroesophageal reflux, Feeding difficulties, Chronic constipation	OMIM:616577
Behr Syndrome	Dysphagia, Chronic constipation	OMIM:210000
16P12.1P12.3 Triplication Syndrome	Intrauterine growth retardation, Chronic constipation, Skin-picking, Attention deficit hyperactiv...	ORPHA:485405
Somatostatinoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Nausea and vomiting, Intestinal obst...	ORPHA:97283
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Malabsorption, Nausea and vomiting, Attention deficit hyperactivity ...	ORPHA:440437
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Feeding difficulties in infancy, Gastroesophageal reflux, Chronic c...	OMIM:618829
Skraban-Deardorff Syndrome	Constipation, Feeding difficulties	OMIM:617616
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Constipation	OMIM:616683
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Constipation, Ca...	ORPHA:93672
48,Xxxy Syndrome	Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipation, Hypoplasia of pe...	ORPHA:96263
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Self-injurious behavior, Chronic constipation, Aggressive behavior, Attention deficit hyperactivi...	OMIM:617061
Houge-Janssens Syndrome 2	Unilateral renal agenesis, Chronic constipation	OMIM:616362
Developmental And Epileptic Encephalopathy 31B	Choking episodes, Tube feeding, Constipation, Feeding difficulties	OMIM:620352
Intellectual Developmental Disorder, Autosomal Dominant 52	Obsessive-compulsive trait, Chronic constipation, Hyperactivity, Pica, Motor stereotypy, Feeding ...	OMIM:617796
Grfoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Hypoactive bowel sounds, Nausea and ...	ORPHA:97261
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Gastroesophageal reflux, Nasogastric tube feeding, Aggressive behavior, ...	ORPHA:466943
Glucagonoma	Gastrointestinal hemorrhage, Diarrhea, Lack of bowel sounds, Abnormal gastrointestinal motility, ...	ORPHA:97280
Stevenson-Carey Syndrome	Constipation, Gastroesophageal reflux, Recurrent urinary tract infections	OMIM:611961
Pontocerebellar Hypoplasia, Type 13	Decreased liver function, Feeding difficulties, Constipation	OMIM:618606
Den Hoed-De Boer-Voisin Syndrome	Gastroesophageal reflux, Recurrent urinary tract infections, Intrauterine growth retardation, Ste...	OMIM:619229
Central Hypoventilation Syndrome, Congenital, 3	Episodic vomiting, Feeding difficulties, Chronic constipation	OMIM:619483
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Frequent temper tantrums, Attention deficit hyperactivity disorder, Constipation, Compu...	OMIM:618050
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Vomiting,...	OMIM:229600
Neuroendocrine Neoplasm Of Appendix	Abdominal colic, Protracted diarrhea, Hypoactive bowel sounds, Nausea and vomiting, Mechanical il...	ORPHA:100079
Developmental And Epileptic Encephalopathy 83	Feeding difficulties in infancy, Chronic constipation, Poor suck	OMIM:618744
Fg Syndrome Type 1	Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipation, Short stature, C...	ORPHA:93932
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Self-injurious behavior, Gastroesophageal reflux, Nasogastric tube feeding, Aggressive behavior, ...	ORPHA:466950
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Diarrhea, Episodic vomiting, Constipation	OMIM:105210
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Self-injurious behavior, Hematochezia, Head-banging, Frequent temper tantrums, Renal tubular acid...	OMIM:619575
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Constipation, Protuberant abdomen, Abdominal distention	ORPHA:226313
Waardenburg-Shah Syndrome	Abdominal pain, Constipation, Intestinal obstruction	ORPHA:897
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Growth delay, Constipation, Dysphagia, Malnutrition	OMIM:226600
Melas	Nephropathy, Focal segmental glomerulosclerosis, Proximal tubulopathy, Diarrhea, Vomiting, Intest...	ORPHA:550
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Leukodystrophy, Hypomyelinating, 20	Feeding difficulties, Chronic constipation	OMIM:619071
Gastrointestinal Stromal Tumor	Constipation, Dysphagia, Intestinal obstruction	OMIM:606764
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gastroesophageal reflux, Bruxism, Intrauterine growth retardation, Vesicoureteral reflux, Abnorma...	ORPHA:453499
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Chronic constipation	OMIM:619465
Chops Syndrome	Gastroesophageal reflux, Horseshoe kidney, Gastroparesis, Vesicoureteral reflux, Constipation, Sh...	OMIM:616368
Genetic Transient Congenital Hypothyroidism	Constipation, Increased circulating thyroglobulin concentration, Feeding difficulties	ORPHA:226316
Pitt-Hopkins Syndrome	Self-injurious behavior, Gastroesophageal reflux, Postnatal growth retardation, Esophagitis, Aggr...	ORPHA:2896
Hypothyroidism Due To Tsh Receptor Mutations	Feeding difficulties in infancy, Constipation, Increased circulating thyroglobulin concentration,...	ORPHA:90673
Smith-Lemli-Opitz Syndrome	Abdominal distention, Duplicated collecting system, Hypospadias, Gastroesophageal reflux, Renal a...	OMIM:270400
Thyroid Hypoplasia	Short stature, Constipation, Growth delay, Abdominal distention	ORPHA:95720
Prader-Willi Syndrome	Self-injurious behavior, Intrauterine growth retardation, Hypertriglyceridemia, Chronic constipat...	OMIM:176270
Magel2-Related Prader-Willi-Like Syndrome	Abnormal temper tantrums, Gastroesophageal reflux, Xerostomia, Nasogastric tube feeding, Chronic ...	ORPHA:398069
Temple-Baraitser Syndrome	Short stature, Constipation	ORPHA:420561
Kapur-Toriello Syndrome	Micropenis, Intrauterine growth retardation, Abnormality of the urinary system, Constipation	OMIM:244300
Intellectual Developmental Disorder, Autosomal Dominant 64	Attention deficit hyperactivity disorder, Feeding difficulties, Growth delay, Chronic constipation	OMIM:619188
Imerslund-Gräsbeck Syndrome	Proteinuria, Vomiting, Poor appetite, Constipation	ORPHA:35858
Mucopolysaccharidosis Type 3	Abnormal temper tantrums, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion...	ORPHA:581
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, Gastroesophageal reflux, Hypospadias, Constipation	OMIM:616449
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Brain-Lung-Thyroid Syndrome	Growth delay, Megacystis, Abnormal eating behavior, Vesicoureteral reflux, Abnormal drinking beha...	ORPHA:209905
Parkinsonism-Dystonia 1, Infantile-Onset	Gastroesophageal reflux, Feeding difficulties, Constipation	OMIM:613135
Multiple System Atrophy, Cerebellar Type	Neuromuscular dysphagia, Constipation	ORPHA:227510
Cataracts, Spastic Paraparesis, And Speech Delay	Chronic constipation	OMIM:619338
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Short stature, Gastroesophageal reflux, Feeding difficulties, Constipation	ORPHA:562528
Angelman Syndrome	Feeding difficulties in infancy, Constipation, Paroxysmal bursts of laughter, Hyperactivity	OMIM:105830
Cardiofaciocutaneous Syndrome 1	Vomiting, Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Hydronephrosis, Feeding d...	OMIM:115150
Hartsfield Syndrome	Micropenis, Hypospadias, Hypernatremia, Growth delay	OMIM:615465
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastroesophageal reflux, Urinary retention, Bruxism, Chronic constipation, Aggressive behavior, G...	OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, Intrauterine growth retardation, Attention deficit hyperactivity disorde...	OMIM:619934
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Gastroesophageal reflux, Recurrent urinary tract infections, Bruxism, Intraute...	OMIM:615873
White-Sutton Syndrome	Self-injurious behavior, Gastroesophageal reflux, Chronic constipation, Aggressive behavior, Feed...	ORPHA:468678
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroesophageal reflux, Gastroparesis, Elevated circulating creatine kinase concentration, Const...	ORPHA:254892
Rahman Syndrome	Feeding difficulties, Chronic constipation	OMIM:617537
Alternating Hemiplegia Of Childhood	Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Anorexia, Aggressive behavior, Gastrointestinal dy...	ORPHA:2131
Developmental And Epileptic Encephalopathy 102	Gastroesophageal reflux, Chronic constipation	OMIM:619881
Floating-Harbor Syndrome	Abnormal temper tantrums, Nephrocalcinosis, Gastroesophageal reflux, Dilatation of the renal pelv...	ORPHA:2044
Rett Syndrome, Congenital Variant	Gastroesophageal reflux, Bruxism, Tongue thrusting, Constipation, Motor stereotypy, Feeding diffi...	OMIM:613454
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Chordee...	OMIM:201750
Developmental Delay, Hypotonia, And Impaired Language	Gastroesophageal reflux, Feeding difficulties, Constipation	OMIM:620012
9Q33.3Q34.11 Microdeletion Syndrome	Esophagitis, Constipation, Abnormality of the kidney, Micropenis, Dysphagia	ORPHA:495818
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Gastroesophageal reflux, Postnatal growth retardation, Attention deficit hyperactivity disorder, ...	OMIM:620029
Kapur-Toriello Syndrome	Hypoplasia of penis, Constipation	ORPHA:2328
Hereditary Late-Onset Parkinson Disease	Agitation, Chronic constipation, Spastic/hyperactive bladder, Dysphagia, Impulsivity	ORPHA:411602
Pitt-Hopkins Syndrome	Self-injurious behavior, Gastroesophageal reflux, Constipation, Micropenis, Motor stereotypy	OMIM:610954
Angiostrongyliasis	Vomiting, Nausea, Constipation, Abdominal pain, Projectile vomiting, Poor appetite	ORPHA:74
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu...	OMIM:619482
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Feeding difficulties in infancy, Tongue thrusting, Constipation	OMIM:608643
Qazi-Markouizos Syndrome	Chronic constipation, Abdominal distention	ORPHA:3010
Rubinstein-Taybi Syndrome	Attention deficit hyperactivity disorder, Feeding difficulties in infancy, Constipation, Short st...	ORPHA:783
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Horseshoe kidney, Nephrolithiasis, Hydronephrosis, Constip...	ORPHA:2953
Thyroid Hemiagenesis	Constipation, Growth delay, Abdominal distention	ORPHA:95719
Adnp Syndrome	Abnormal temper tantrums, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Recurrent...	ORPHA:404448
Au-Kline Syndrome	Chronic kidney disease, Gastroesophageal reflux, Dilatation of the renal pelvis, Vesicoureteral r...	OMIM:616580
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Intrauterine growth retardation, Chronic constipation, Self-mutilation, Attention deficit hyperac...	OMIM:619005
Developmental And Epileptic Encephalopathy 51	Constipation, Feeding difficulties	OMIM:617339
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea	OMIM:142680
Basel-Vanagaite-Smirin-Yosef Syndrome	Male urethral meatus stenosis, Hydronephrosis, Aggressive behavior, Constipation, Hypospadias	ORPHA:464738
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Short stature, Intrauterine growth retardation, Feeding difficulties, Chronic constipation	OMIM:617452
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Attention deficit hyperactivity disorder, Feeding difficulties, Chronic constipation, Poor suck	OMIM:619383
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Intestinal obstruction, Abdominal pain, Constipation, Colitis, ...	ORPHA:70475
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia, Hematuria, Tics, Abdominal pain, Motor stereotypy, Hypospadias, Attention def...	OMIM:619475
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Attention deficit hyperactivity disorder, Feeding difficulties, Chronic constipation, Compulsive ...	ORPHA:404440
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Gastroparesis, Constipation, Dysphagia, Poor suck	ORPHA:70
Neurodevelopmental Disorder With Spasticity And Poor Growth	Vomiting, Gastroesophageal reflux, Vesicoureteral reflux, Chronic constipation, Short stature, Gr...	OMIM:618076
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Self-injurious behavior, Fixated interests, Hypocalcemia, Hair-pulling, Hydronephrosis, Polyphagi...	OMIM:620330
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Chronic constipation	OMIM:300676
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Short stature, Gastroesophageal reflux, Chronic constipation	OMIM:619721
Adiposis Dolorosa	Diarrhea, Xerostomia, Constipation	ORPHA:36397
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Gastroesophageal reflux, Constipation	OMIM:616266
Acute Transverse Myelitis	Urinary retention, Urinary bladder sphincter dysfunction, Gastroparesis, Paralytic ileus, Constip...	ORPHA:139417
Al-Raqad Syndrome	Chronic constipation	OMIM:616459
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Short stature, Intrauterine growth retardation, Feeding difficulties, Chronic constipation	ORPHA:505237
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Self-injurious behavior, Abnormality of the urinary system, Gastroesophageal reflux, Abnormal fea...	ORPHA:353281
Kagami-Ogata Syndrome	Postnatal growth retardation, Constipation, Dysphagia, Feeding difficulties, Poor suck	ORPHA:254519
Multiple Endocrine Neoplasia Type 1	Melena, Diarrhea, Gastroesophageal reflux, Vomiting, Nephrolithiasis, Nausea, Hypercalciuria, Con...	ORPHA:652
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Constipation, Dysphagia	ORPHA:44890
7Q11.23 Microduplication Syndrome	Self-injurious behavior, Unilateral renal agenesis, Hypospadias, Growth delay, Chronic constipati...	ORPHA:96121
Basilicata-Akhtar Syndrome	Gastroesophageal reflux, Feeding difficulties, Chronic constipation	OMIM:301032
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Gastroesophageal reflux, Dilatation of the renal pelvis, Recurrent uri...	ORPHA:268261
Adult-Onset Autosomal Dominant Leukodystrophy	Urinary retention, Malnutrition, Recurrent urinary tract infections, Constipation, Dysphagia, Uri...	ORPHA:99027
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Gastroesophageal reflux, Oral-pharyngeal dysphagia, Postnatal growth retardation, Intrauterine gr...	OMIM:300966
Hypothyroidism, Congenital, Nongoitrous, 2	Hyperbilirubinemia, Feeding difficulties in infancy, Constipation, Abdominal distention, Growth d...	OMIM:218700
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormal renal morphology, Constipation, Feeding difficulties	OMIM:239300
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Aggressive behavior, Tongue thrusting, Constipation, Compulsive behaviors, Enuresis	ORPHA:369950
Developmental And Epileptic Encephalopathy 2	Gastroesophageal reflux, Motor stereotypy, Constipation	OMIM:300672
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Vesicoureteral reflux, Chronic constipation, Aggressive behavior, Mi...	ORPHA:163956
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Feeding difficulties, Constipation	OMIM:614325
Williams-Beuren Syndrome	Obsessive-compulsive trait, Chronic constipation, Feeding difficulties in infancy, Micropenis, Ga...	OMIM:194050
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Vomiting, Intestinal obstruction, Peritonitis, Constipation, Elevated circulating C-rea...	ORPHA:32960
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Gastroparesis, Bruxism, Vesicoureteral reflux, Hydronephrosis, Gas...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Gastroparesis, Bruxism, Vesicoureteral reflux, Hydronephrosis, Gas...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 73	Hydroureter, Recurrent hand flapping, Self-mutilation, Aggressive behavior, Feeding difficulties ...	OMIM:620450
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Gastroesophageal reflux, Hyperactivity, Chronic constipation	OMIM:619720
Pontocerebellar Hypoplasia, Type 10	Gastroesophageal reflux, Growth delay, Feeding difficulties, Constipation	OMIM:615803
Currarino Syndrome	Recurrent urinary tract infections, Horseshoe kidney, Vesicoureteral reflux, Chronic constipation...	OMIM:176450
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Gastroesophageal reflux, Encopresis, Proteinuria, Constipation, Motor stereotypy, Feeding difficu...	OMIM:616682
Thyroid Ectopia	Constipation, Dysphagia, Abdominal distention, Short stature, Growth delay	ORPHA:95712
Multiple System Atrophy	Constipation	ORPHA:102
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Inflammation of the large intestine, Diarrhea, Chronic gastritis, Esophagitis, Chronic constipati...	OMIM:301074
Nk-Cell Enteropathy	Hematochezia, Diarrhea, Gastroesophageal reflux, Constipation, Abdominal pain	ORPHA:263665
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Short stature, Chordee, Constipation, Feeding difficulties	OMIM:616728
22Q11.2 Deletion Syndrome	Renal hypoplasia, Gastroesophageal reflux, Gastrointestinal hemorrhage, Intrauterine growth retar...	ORPHA:567
Kinsship Syndrome	Renal hypoplasia, Gastroesophageal reflux, Horseshoe kidney, Bruxism, Chronic constipation, Short...	OMIM:619297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Gastroesophageal reflux, Vesicoureteral reflux, Nephrol...	ORPHA:438213
Multiple System Atrophy, Parkinsonian Type	Constipation	ORPHA:98933
Opitz-Kaveggia Syndrome	Short stature, Attention deficit hyperactivity disorder, Constipation, Hypospadias	OMIM:305450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Postnatal growth retardation, Feeding difficulties in infancy, Abnormality of the kidney, Motor s...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Postnatal growth retardation, Feeding difficulties in infancy, Abnormality of the kidney, Motor s...	ORPHA:353277
Deeah Syndrome	Exocrine pancreatic insufficiency, Intrauterine growth retardation, Malabsorption, Chronic consti...	OMIM:619004
Multiple Endocrine Neoplasia, Type Iib	Diarrhea, Elevated urinary epinephrine level, Constipation	OMIM:162300
Williams Syndrome	Nausea and vomiting, Overfriendliness, Abdominal pain, Gastroesophageal reflux, Malabsorption, Re...	ORPHA:904
Congenital Heart Defects And Skeletal Malformations Syndrome	Short stature, Intrauterine growth retardation, Hypospadias, Chronic constipation	OMIM:617602
Jacobsen Syndrome	Multicystic kidney dysplasia, Intrauterine growth retardation, Hydronephrosis, Feeding difficulti...	ORPHA:2308
Developmental And Epileptic Encephalopathy 95	Inappropriate laughter, Constipation, Feeding difficulties	OMIM:618143
Alexander Disease	Self-injurious behavior, Nausea and vomiting, Constipation, Dysphagia, Bowel incontinence	ORPHA:58
Kaufman Oculocerebrofacial Syndrome	Short stature, Hypocholesterolemia, Feeding difficulties in infancy, Constipation	OMIM:244450
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Head-banging, Phimosis, Impulsivity, Chordee, Constipation, Attention deficit hyperactivity disor...	OMIM:620455
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Short stature, Constipation	OMIM:618493
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Unilateral renal agenesis, Postnatal growth retardation, Chronic constipation, Self-mutilation, A...	OMIM:213980
1P36 Deletion Syndrome	Self-injurious behavior, Gastroesophageal reflux, Hydronephrosis, Renal cyst, Feeding difficultie...	ORPHA:1606
Eales Disease	Constipation	ORPHA:40923
Ohdo Syndrome, X-Linked	Micropenis, Constipation, Feeding difficulties	OMIM:300895
Cartilage-Hair Hypoplasia	Absent pubertal growth spurt, Neonatal short-limb short stature, Malabsorption, Constipation	OMIM:250250
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Generalized aminoaciduria, Hypotriglyceridemia, Chronic constipation, Decreased LDL cholesterol c...	ORPHA:404454
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Self-injurious behavior, Aggressive behavior, Attention deficit hyperactivity disorder, Chronic c...	ORPHA:544488
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Abnormal renal morphology, Feeding difficulties in infancy, Chronic constipation	ORPHA:477817
Nicolaides-Baraitser Syndrome	Intrauterine growth retardation, Aggressive behavior, Attention deficit hyperactivity disorder, C...	OMIM:601358
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Abnormality of the urinary system, Dilatation of the renal pelvis, Gas...	ORPHA:95699
Okur-Chung Neurodevelopmental Syndrome	Frequent temper tantrums, Recurrent hand flapping, Attention deficit hyperactivity disorder, Cons...	OMIM:617062
Chromosome 6Pter-P24 Deletion Syndrome	Chronic constipation	OMIM:612582
Ramos-Arroyo Syndrome	Severe short stature, Xerostomia, Chronic constipation, Self-mutilation, Feeding difficulties in ...	ORPHA:1051
Semilobar Holoprosencephaly	Vomiting, Gastroesophageal reflux, Growth delay, Gastrostomy tube feeding in infancy, Attention d...	ORPHA:220386
Alobar Holoprosencephaly	Vomiting, Gastroesophageal reflux, Growth delay, Gastrostomy tube feeding in infancy, Attention d...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Vomiting, Gastroesophageal reflux, Growth delay, Gastrostomy tube feeding in infancy, Attention d...	ORPHA:93926
Lobar Holoprosencephaly	Vomiting, Gastroesophageal reflux, Growth delay, Gastrostomy tube feeding in infancy, Attention d...	ORPHA:93924
Rubinstein-Taybi Syndrome 1	Gastroesophageal reflux, Growth delay, Postnatal growth retardation, Self-mutilation, Hydronephro...	OMIM:180849
Combined Oxidative Phosphorylation Deficiency 25	Short stature, Feeding difficulties, Chronic constipation	OMIM:616430
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Gastroesophageal reflux, Bruxism, Feeding difficulties, Unilateral renal hypoplasia, Chronic cons...	OMIM:619950
Lynch Syndrome	Gastrointestinal hemorrhage, Malabsorption, Nausea and vomiting, Attention deficit hyperactivity ...	ORPHA:144
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Gastroesophageal reflux, Horseshoe kidney, Vesicoureteral reflux, Gastrostomy tube feeding in inf...	ORPHA:444077
Trisomy 8P	Nephrocalcinosis, Hydronephrosis, Constipation, Micropenis, Fetal pyelectasis	ORPHA:264450
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis, Disproportionate short-limb sho...	OMIM:619194
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Constipation, Feeding difficulties	OMIM:618162
Kilquist Syndrome	Gastroesophageal reflux, Xerostomia, Feeding difficulties, Chronic constipation	OMIM:619080
Sotos Syndrome	Gastroesophageal reflux, Renal agenesis, Feeding difficulties, Hypercalcemia, Renal insufficiency...	ORPHA:821
Osteogenesis Imperfecta	Rhizomelia, Growth delay, Intrauterine growth retardation, Intestinal obstruction, Nephrolithiasi...	ORPHA:666
Mosaic Trisomy 20	Horseshoe kidney, Intrauterine growth retardation, Abnormality of the kidney, Chronic constipation	ORPHA:1724
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Renal hypoplasia, Gastroesophageal reflux, Vomiting, Vesicoureteral reflux, Paroxysmal bursts of ...	OMIM:309580
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Constipation, Multiple renal cysts,...	ORPHA:857
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation	OMIM:619352
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Short stature, Chronic constipation	OMIM:300472
Yuan-Harel-Lupski Syndrome	Feeding difficulties, Chronic constipation	OMIM:616652
Turcot Syndrome With Polyposis	Hematochezia, Vomiting, Diarrhea, Nausea, Constipation, Melena, Abdominal pain	ORPHA:99818
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Obsessive-compulsive trait, A...	ORPHA:273
Turnpenny-Fry Syndrome	Gastroesophageal reflux, Intrauterine growth retardation, Chronic constipation, Attention deficit...	OMIM:618371
Chromosome 1P36 Deletion Syndrome, Distal	Gastroesophageal reflux, Growth delay, Oppositional defiant disorder, Self-mutilation, Aggressive...	OMIM:607872
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Gastroesophageal reflux, Eosinophilic infiltration of the esophagus, Nau...	OMIM:147060
Mucopolysaccharidosis, Type Vi	Short stature, Disproportionate short-trunk short stature, Dermatan sulfate excretion in urine, C...	OMIM:253200
Witteveen-Kolk Syndrome	Gastroesophageal reflux, Growth delay, Male urethral meatus stenosis, Microphallus, Intrauterine ...	OMIM:613406
Acromesomelic Dysplasia 4	Short stature, Rhizomelia, Disproportionate short stature, Chronic constipation	OMIM:619636
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention, Constipation	OMIM:600145
Down Syndrome	Gastroesophageal reflux, Chronic constipation, Renal hypoplasia/aplasia, Delayed puberty, Short s...	ORPHA:870
Aicardi Syndrome	Gastroesophageal reflux, Malabsorption, Feeding difficulties in infancy, Constipation, Delayed pu...	ORPHA:50
C Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Constipation, Short sta...	ORPHA:1308
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Stereotypical body rocking, Gastrostomy tube feeding in infancy, Feeding...	ORPHA:513456
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Hydronephrosis, Nephrotic syndrome, Constipation	OMIM:601776
Developmental And Epileptic Encephalopathy 100	Motor stereotypy, Gastroesophageal reflux, Dysphagia, Chronic constipation	OMIM:619777
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Constipation	OMIM:613603
Malt Lymphoma	Abdominal pain, Constipation, Nausea and vomiting	ORPHA:52417
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Nasogastric tube feeding, Hypomagnesemia, Bruxism, Stereotypical body ...	OMIM:619503
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Short stature, Feeding difficulties in infancy, Feeding difficulties, Chronic constipation	OMIM:617506
Mogs-Cdg	Chronic constipation, Nasogastric tube feeding	ORPHA:79330
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Chordee, Micropenis, Abnormality of the kidney, Urinary incontinenc...	ORPHA:2152
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Aggressive behavior, Motor stereotypy, Chronic constipation	OMIM:301066
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Feeding difficulties in infancy, Constipation, Growth delay, Pituitary dwarfism	ORPHA:226307
Faundes-Banka Syndrome	Gastroesophageal reflux, Intrauterine growth retardation, Chronic constipation, Feeding difficult...	OMIM:619376
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Aggressive behavior, Constipation	ORPHA:314647
Coffin-Siris Syndrome 12	Gastroesophageal reflux, Horseshoe kidney, Chronic constipation, Motor stereotypy, Short stature,...	OMIM:619325
Proteasome-Associated Autoinflammatory Syndrome 1	Parotitis, Decreased HDL cholesterol concentration, Chronic constipation, Elevated circulating C-...	OMIM:256040
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Multicystic kidney dysplasia, Bruxism, Vesicoureteral reflux, Renal duplication, Hy...	ORPHA:261537
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abdominal pain, Ileus, Constipation	ORPHA:163746
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Constipation, Delayed puberty, Short stature, Growth delay	ORPHA:90695
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Bruxism, Vesicoureteral ...	ORPHA:261552
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Constipation	OMIM:305100
Mowat-Wilson Syndrome	Vomiting, Constipation, Abnormality of the kidney, Abdominal distention, Short stature, Hypospadias	OMIM:235730
Curry-Jones Syndrome	Intestinal pseudo-obstruction, Chronic constipation	OMIM:601707
Central Hypoventilation Syndrome, Congenital, 1	Ineffective esophageal peristalsis, Feeding difficulties, Chronic constipation	OMIM:209880
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Gastroesophageal reflux, Chronic constipation, Aggressive behavior, Attention deficit hyperactivi...	OMIM:614756
Lambert-Eaton Myasthenic Syndrome	Constipation, Xerostomia	ORPHA:43393
Menke-Hennekam Syndrome 2	Chronic constipation	OMIM:618333
Hypermobile Ehlers-Danlos Syndrome	Gastroesophageal reflux, Malabsorption, Cystocele, Nausea and vomiting, Gastrointestinal dysmotil...	ORPHA:285
Classical Ehlers-Danlos Syndrome	Vomiting, Gastroesophageal reflux, Chronic constipation, Bladder diverticulum, Nausea	ORPHA:287
Viss Syndrome	Gastroesophageal reflux, Chronic gastritis, Chronic constipation, Hydronephrosis, Abdominal diste...	OMIM:619472
Combined Pituitary Hormone Deficiencies, Genetic Forms	Constipation, Delayed puberty, Pituitary dwarfism, Growth delay	ORPHA:95494
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Feeding difficulties, Gastroesophageal reflux, Chronic constipation	OMIM:619480
Knobloch Syndrome 2	Chronic constipation	OMIM:618458
Menke-Hennekam Syndrome 1	Feeding difficulties, Gastroesophageal reflux, Chronic constipation	OMIM:618332
Holoprosencephaly 2	Constipation	OMIM:157170

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 Cldn17

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 Cldn17.

No publications found that use IMPC mice or data for Cldn17.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Cldn17^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	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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