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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 (601 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	Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Polydipsia, Nocturia	ORPHA:178029
Nephrogenic Diabetes Insipidus	Nausea and vomiting, Renal insufficiency, Hydroureter, Short stature, Anorexia, Functional abnorm...	ORPHA:223
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting, Constipation, Pol...	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Short stature, Polyuria, Feeding difficulties in infancy, Megacystis, Vomiting, Constipation, Pol...	OMIM:304800
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Nausea, Abdominal pain, Abnormal circulating porphyrin concentration,...	ORPHA:100924
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence...	ORPHA:2704
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Hyperkalemia, Growth delay, In...	OMIM:203400
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Renal tubular dysfunction, Aminoaciduria, Hypoka...	ORPHA:213
Hereditary Coproporphyria	Dark urine, Hyponatremia, Small intestinal dysmotility, Abdominal pain, Abnormal circulating porp...	ORPHA:79273
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Feeding di...	OMIM:248250
Juvenile Nephropathic Cystinosis	Poor appetite, Aminoaciduria, Renal Fanconi syndrome, Vomiting, Hypocalcemia, Low-molecular-weigh...	ORPHA:411634
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Vomiting	OMIM:264350
Apparent Mineralocorticoid Excess	Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka...	ORPHA:320
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Feeding difficulties, Increased circula...	ORPHA:556030
Senior-Loken Syndrome 4	Polydipsia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia	OMIM:233100
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Vomi...	ORPHA:556037
East Syndrome	Salt craving, Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circu...	ORPHA:199343
Distal Renal Tubular Acidosis	Hyperphosphaturia, Short stature, Poor appetite, Hypocitraturia, Diarrhea, Nephrolithiasis, Renal...	ORPHA:18
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Gitelman Syndrome	Salt craving, Polyuria, Abdominal pain, Renal magnesium wasting, Growth delay, Enuresis, Hypokale...	OMIM:263800
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Short stature, Chronic kidney disease, Hyperkalemia, Oliguria, Renal h...	ORPHA:97362
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Hereditary Central Diabetes Insipidus	Growth delay, Polydipsia, Vomiting, Diarrhea	ORPHA:30925
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Feeding difficulties in infancy, Hypercal...	OMIM:239200
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bow...	ORPHA:35710
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Diarrhea, Bicarbonaturia, Bi...	ORPHA:47159
Familial Hypoaldosteronism	Hyponatremia, Nausea and vomiting, Decreased urinary potassium, Renal salt wasting, Diarrhea, Hyp...	ORPHA:427
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Variegate Porphyria	Abdominal pain, Porphyrinuria, Increased urinary porphobilinogen, Constipation, Vomiting, Elevate...	OMIM:176200
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level	OMIM:610600
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Snakebite Envenomation	Hyponatremia, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Acute kidney i...	ORPHA:449285
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, ...	OMIM:612780
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Acute Intermittent Porphyria	Dark urine, Hyponatremia, Renal insufficiency, Restlessness, Nausea and vomiting, Dysuria, Urinar...	ORPHA:79276
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypercalciuria, Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Short stature, Renal salt wasting, ...	OMIM:241200
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia, Constipation	ORPHA:526
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia, Feeding difficulties	OMIM:143860
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ...	OMIM:601678
Primary Unilateral Adrenal Hyperplasia	Increased urinary potassium, Hypokalemia, Polydipsia, Nausea, Decreased circulating renin level	ORPHA:231580
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Xerostomia, Hypokalemia, Hypocal...	OMIM:617671
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Kleine-Levin Syndrome	Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu...	ORPHA:33543
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abdominal pain, Abnormal circulating porphyrin concentration, C...	ORPHA:79473
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Acute Adrenal Insufficiency	Hyponatremia, Nausea and vomiting, Renal insufficiency, Salt craving, Hypercalcemia, Anorexia, De...	ORPHA:95409
Cholera	Hyponatremia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Abnormal bl...	ORPHA:173
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circulating renin level, Vo...	OMIM:177735
Familial Hyperaldosteronism Type Iii	Hypokalemia, Polydipsia, Hypercalciuria, Nausea	ORPHA:251274
Familial Glucocorticoid Deficiency	Hyponatremia, Recurrent urinary tract infections, Anorexia, Renal salt wasting, Diarrhea, Hyperka...	ORPHA:361
Shigellosis	Hyponatremia, Anorexia, Abdominal pain, Hemolytic-uremic syndrome, Peritonitis, Urethritis, Abnor...	ORPHA:810
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Renal hypoplasia, Feeding difficulties, Nephrocalcinosis, Growth delay,...	OMIM:617913
Legionnaires Disease	Hyponatremia, Nausea and vomiting, Renal insufficiency, Proteinuria, Anorexia, Abdominal pain, Di...	ORPHA:549
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Diarrhea, Oliguria, Abnormal blood ion concentration, Hypophos...	ORPHA:31824
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Infant Botulism	Hyponatremia, Anorexia, Bowel incontinence, Abdominal pain, Xerostomia, Constipation, Dysphagia	ORPHA:178478
Hypoadrenocorticism, Familial	Hyponatremia, Feeding difficulties in infancy, Hyperkalemia, Vomiting	OMIM:240200
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Constipation, Abnormal circulating lipid concen...	ORPHA:225
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Abdominal distention, Secretory diarrhea, Growth delay, Hypochloremia, Hypokalemia,...	OMIM:214700
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Constipation, Attention deficit hyperactivity disorder	OMIM:301033
Senior-Boichis Syndrome	Polydipsia, Thickening of the tubular basement membrane, Aggressive behavior, Chronic kidney dise...	ORPHA:84081
Hyperparathyroidism-Jaw Tumor Syndrome	Nausea and vomiting, Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithi...	ORPHA:99880
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level, Vomiting	OMIM:620126
Coproporphyria, Hereditary	Abdominal pain, Diarrhea, Increased urinary porphobilinogen, Constipation, Vomiting, Elevated uri...	OMIM:121300
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati...	ORPHA:84085
Propionic Acidemia	Organic aciduria, Constipation, Hyperammonemia	ORPHA:35
Parathyroid Carcinoma	Nausea and vomiting, Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Nephrolithi...	ORPHA:143
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoargininemia, Hyperglutaminemia, Low plasma...	OMIM:615751
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Short stature, Chronic kidney disease, ...	ORPHA:1667
Familial Hyperaldosteronism Type I	Hypokalemia, Polydipsia, Nausea	ORPHA:403
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Polydipsia, Nephrolithiasis, Nausea	ORPHA:369929
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi...	OMIM:606995
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinase concentrati...	ORPHA:94093
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg...	OMIM:308990
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia, Renal salt wasting	OMIM:614736
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
Bardet-Biedl Syndrome 9	Renal insufficiency, Polydipsia, Polyphagia	OMIM:615986
Intellectual Disability-Epilepsy-Extrapyramidal Syndrome	Constipation, Feeding difficulties, Agitation, Aggressive behavior	ORPHA:468620
Herpes Simplex Virus Encephalitis	Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration, Nause...	ORPHA:1930
Hyperkalemic Periodic Paralysis	Hyponatremia, Elevated circulating creatine kinase concentration, Bowel incontinence, Feeding dif...	ORPHA:682
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Secretory diarrhea, Feeding difficulties, Hematoche...	OMIM:618183
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Proportionate short stature, Feeding difficulties in infancy, Hyperkalemia, Increas...	ORPHA:171876
Hyperinsulinemic Hypoglycemia, Familial, 8	Short stature, Hyperammonemia, Growth delay, Chronic constipation, Attention deficit hyperactivit...	OMIM:620211
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Abdominal pain, Diarrhea, Peritonitis, Elevated circulating creatinine conc...	ORPHA:90038
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Chronic constipat...	ORPHA:261222
Diastasis Recti And Weakness Of The Linea Alba	Constipation	OMIM:612198
Addison Disease	Hyponatremia, Nausea and vomiting, Salt craving, Hypercalcemia, Anorexia, Decreased urinary potas...	ORPHA:85138
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Chronic diarrhea, H...	OMIM:617053
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Paroxysmal Extreme Pain Disorder	Constipation	ORPHA:46348
Malonyl-Coa Decarboxylase Deficiency	Short stature, Abdominal pain, Diarrhea, Methylmalonic aciduria, Chronic constipation, Elevated u...	OMIM:248360
Intellectual Developmental Disorder, X-Linked 99	Hypospadias, Aggressive behavior, Ectopic kidney, Chronic constipation, Gastroesophageal reflux, ...	OMIM:300919
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Renal Fanconi sy...	ORPHA:358
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Bardet-Biedl Syndrome 17	Polydipsia, Polyuria, Stage 5 chronic kidney disease, Renal cyst, Micropenis	OMIM:615994
Familial Cold Urticaria	Nausea and vomiting, Polydipsia, Abdominal pain	ORPHA:47045
Alg8-Cdg	Hyponatremia, Diarrhea, Feeding difficulties, Vomiting, Intrauterine growth retardation	ORPHA:79325
Aica-Ribosuria Due To Atic Deficiency	Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia	OMIM:608688
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Anorexia, Hypercalciu...	OMIM:241500
Panhypophysitis	Hyponatremia, Poor appetite, Hyposthenuria, Polydipsia, Nausea	ORPHA:95513
Adrenal Hypoplasia, Congenital	Hyponatremia, Delayed puberty, Renal salt wasting	OMIM:300200
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Acquired Central Diabetes Insipidus	Pollakisuria, Polydipsia	ORPHA:95626
Lysosomal Acid Lipase Deficiency	Hyponatremia, Nausea and vomiting, Fatal liver failure in infancy, Hypertriglyceridemia, Renal sa...	ORPHA:275761
Whipple Disease	Hyponatremia, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Diarrhea, Polydipsia	ORPHA:3452
2Q23.1 Microdeletion Syndrome	Hyperactivity, Hypoplasia of penis, Short stature, Polyphagia, Growth delay, Self-injurious behav...	ORPHA:228402
Attrv30M Amyloidosis	Nephropathy, Diarrhea, Constipation, Abnormal renal physiology	ORPHA:85447
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Nausea, Abdominal pain, Diarrhea, Hyperkalemia, Oliguria, Secretory diarrhe...	ORPHA:544482
Hijazi-Reis Syndrome	Postnatal growth retardation, Chronic constipation, Gastroesophageal reflux, Hyperbilirubinemia, ...	OMIM:301094
Late-Onset Isolated Acth Deficiency	Hyponatremia, Nausea and vomiting, Hypercalcemia, Anorexia, Abdominal pain, Diarrhea, Hyperkalemi...	ORPHA:199299
Septo-Optic Dysplasia Spectrum	Hypoplasia of penis, Polydipsia, Short stature, Constipation	ORPHA:3157
Hereditary Fructose Intolerance	Renal insufficiency, Abdominal pain, Abdominal distention, Diarrhea, Chronic kidney disease, Hype...	ORPHA:469
Xq28 (MECP2) duplication	Feeding difficulties in infancy, Functional abnormality of the bladder, Gastroesophageal reflux, ...	DECIPHER:45
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoalb...	ORPHA:247353
Necrotizing Enterocolitis	Hyponatremia, Abdominal distention, Diarrhea, Peritonitis, Bloody diarrhea, Vomiting	ORPHA:391673
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Urinary incontinence, Dysphagia	ORPHA:309162
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney, Feeding difficultie...	ORPHA:1764
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Hyposthenuria, Gastroesophageal reflux, Vesicoureteral reflux,...	OMIM:615926
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Short stature, Abnormal renal morphology, Self hugging, Head...	OMIM:182290
Foxg1 Syndrome	Short stature, Feeding difficulties, Severe postnatal growth retardation, Gastroesophageal reflux...	ORPHA:561854
Wolfram Syndrome	Gastrointestinal hemorrhage, Recurrent urinary tract infections, Dysuria, Feeding difficulties in...	ORPHA:3463
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, V...	ORPHA:90791
Hypocalcemia, Autosomal Dominant 2	Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Secondary Short Bowel Syndrome	Small intestinal dysmotility, Abdominal distention, Diarrhea, Low plasma citrulline, Malnutrition...	ORPHA:95427
Intellectual Developmental Disorder, Autosomal Dominant 70	Hyponatremia, Feeding difficulties	OMIM:620157
Pediatric-Onset Graves Disease	Nausea and vomiting, Hyperactivity, Diarrhea, Intrauterine growth retardation, Polydipsia, Polyph...	ORPHA:525731
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Rabson-Mendenhall Syndrome	Short stature, Long penis, Nephrocalcinosis, Severe postnatal growth retardation, Hypokalemia, In...	ORPHA:769
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Feeding difficulties, Self-injurious behavior, Constipation, Inappropriate laughter, Bruxism, Ste...	OMIM:614254
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration...	OMIM:619743
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Feeding difficulties in infancy, Oligosacchariduria, Nephrocalcinosis, Aminoacidur...	ORPHA:534
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Anorexia, Lacticaciduria, Hyperamm...	ORPHA:3008
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Gastrointestinal hemorrhage, Recurrent urinary tract infections, Renal insufficienc...	ORPHA:731
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Feeding d...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Feeding d...	ORPHA:289548
Adenohypophysitis	Hyponatremia, Hyposthenuria, Nausea, Poor appetite	ORPHA:95512
Glutathionuria	Constipation, Urinary incontinence, Glutathionuria	OMIM:231950
Intellectual Developmental Disorder With Autism And Macrocephaly	Constipation, Recurrent hand flapping, Pica	OMIM:615032
Igg4-Related Retroperitoneal Fibrosis	Nausea and vomiting, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concen...	ORPHA:49041
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Abnormality of the kidney, Decreased serum iron, Repetitive compulsive behavior, Feeding difficul...	ORPHA:391372
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Renal corticomedu...	OMIM:243910
Neurodevelopmental Disorder With Dystonia And Seizures	Self-injurious behavior, Feeding difficulties, Constipation, Intrauterine growth retardation	OMIM:619922
Thyrotropin-Releasing Hormone Deficiency	Constipation, Short stature	OMIM:275120
Propionic Acidemia	Short stature, Increased level of hippuric acid in urine, Poor appetite, Feeding difficulties in ...	OMIM:606054
Schaaf-Yang Syndrome	Short stature, Impulsivity, Poor suck, Feeding difficulties, Gastroesophageal reflux, Constipatio...	OMIM:615547
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Self-injurious behavior, Constipation, Vomiting	OMIM:613638
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Constipation, Urinary incontinence, Feeding difficulties	OMIM:620094
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Abd...	OMIM:256300
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Growth ...	OMIM:223900
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Growth delay, Nephrotic syndrome, Chronic constipat...	OMIM:619428
Parkinson Disease 22, Autosomal Dominant	Restless legs, Constipation	OMIM:616710
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph...	ORPHA:1267
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Nausea and vomiting, Dys...	ORPHA:537
Athyreosis	Short stature, Abdominal distention, Feeding difficulties, Growth delay, Constipation	ORPHA:95713
Adiposis Dolorosa	Abdominal distention, Constipation	OMIM:103200
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Combined Oxidative Phosphorylation Deficiency 32	Horseshoe kidney, Feeding difficulties, Constipation, Gastroesophageal reflux, Dysphagia	OMIM:617664
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp...	OMIM:618314
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Short stature, Aggressive behavior, Hyperlipidemia, Gastrointestinal dysmotility, H...	ORPHA:293987
Sheehan Syndrome	Hyponatremia, Poor appetite, Hyposthenuria, Constipation, Nausea	ORPHA:91355
Solitary Rectal Ulcer Syndrome	Abdominal pain, Bloody diarrhea, Hematochezia, Chronic constipation, Bloody mucoid diarrhea, Epis...	ORPHA:209964
Infantile Dystonia-Parkinsonism	Gastroesophageal reflux, Abnormal circulating carboxylic acid concentration, Constipation, Feedin...	ORPHA:238455
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Nausea and vomiting	ORPHA:83601
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Urinary retention, Dysph...	ORPHA:228371
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Postnatal growth retardation, Feeding difficulties in infancy, Nephrolithia...	OMIM:606407
Spastic Paraplegia 54, Autosomal Recessive	Short stature, Urinary incontinence, Bowel incontinence, Constipation, Dysphagia	OMIM:615033
Lead Poisoning	Decreased HDL cholesterol concentration, Anorexia, Abdominal pain, Abdominal distention, Chronic ...	ORPHA:330015
Alg12-Cdg	Hyponatremia, Hypospadias, Feeding difficulties, Hypoalbuminemia, Gastroesophageal reflux, Hypoch...	ORPHA:79324
Visceral Myopathy 1	Gastroparesis, Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Diarrhea, Mal...	OMIM:155310
Mitochondrial Complex I Deficiency, Nuclear Type 32	Hyponatremia, Vomiting, Patent urachus	OMIM:618252
Squalene Synthase Deficiency	Hypospadias, Increased circulating farnesol concentration, Decreased LDL cholesterol concentratio...	OMIM:618156
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Attention de...	ORPHA:589905
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Abdominal pain, Urolithiasis, Nephrolithi...	OMIM:614723
Congenital-Onset Steinert Myotonic Dystrophy	Hyperactivity, Abdominal pain, Encopresis, Diarrhea, Enuresis, Gastroesophageal reflux, Constipat...	ORPHA:589821
Porphyria, Acute Intermittent	Dysuria, Urinary incontinence, Abdominal pain, Diarrhea, Paralytic ileus, Urinary retention, Vomi...	OMIM:176000
Hypocalcemia, Autosomal Dominant 1	Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Ddost-Cdg	Gastroesophageal reflux, Constipation, Nephrotic range proteinuria, Short stature	ORPHA:300536
Jansen-De Vries Syndrome	Short stature, Feeding difficulties, Gastroesophageal reflux, Vomiting, Attention deficit hyperac...	OMIM:617450
Hirschsprung Disease	Nausea and vomiting, Intestinal obstruction, Short stature, Abdominal pain, Diarrhea, Functional ...	ORPHA:388
Smith-Magenis Syndrome	Hypertriglyceridemia, Short stature, Renal hypoplasia/aplasia, Feeding difficulties in infancy, A...	ORPHA:819
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Fg Syndrome 2	Constipation	OMIM:300321
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hypospadias, Aggressive behavior, Feeding difficulties in infancy, Renal atrophy, Growth delay, C...	OMIM:618659
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ...	OMIM:241150
Desanto-Shinawi Syndrome	Aggressive behavior, Feeding difficulties, Constipation, Agitation, Attention deficit hyperactivi...	OMIM:616708
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Postnatal growth retardation, Feeding difficulties, Constipation, Gastroesophageal reflux, Intrau...	OMIM:615419
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Abdominal pain, Abdominal distention, Gastrointestinal dysmotility...	OMIM:613662
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hypospadias, Scrotal hypospadias, Hyperkalemia, Perineal hypospadias, Microphallus,...	OMIM:201810
Intellectual Developmental Disorder, Autosomal Dominant 51	Aggressive behavior, Chronic diarrhea, Feeding difficulties, Chronic constipation, Fixated intere...	OMIM:617788
X-Linked Creatine Transporter Deficiency	Hyperactivity, Short stature, Abnormal circulating creatine concentration, Ileus, Constipation, S...	ORPHA:52503
Intellectual Developmental Disorder, Autosomal Recessive 76	Self-injurious behavior, Chronic constipation, Feeding difficulties	OMIM:619931
Erdheim-Chester Disease	Nausea and vomiting, Renal insufficiency, Dysuria, Abdominal pain, Polydipsia, Hydronephrosis	ORPHA:35687
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Japanese Encephalitis	Hyponatremia, Anorexia, Abdominal pain, Diarrhea, Vomiting	ORPHA:79139
Liver Disease, Severe Congenital	Chronic gastritis, Aminoaciduria, Vomiting, Hypocalcemia, Elevated hepatic iron concentration, Hy...	OMIM:619991
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Constipation, Recurrent hand flapping, Pica, Short stature	OMIM:618480
Iatrogenic Botulism	Xerostomia, Constipation, Urinary retention, Dysphagia	ORPHA:254509
Coffin-Siris Syndrome 6	Short stature, Tics, Gastroesophageal reflux, Attention deficit hyperactivity disorder, Constipat...	OMIM:617808
Thyroid Hemiagenesis	Growth delay, Abdominal distention, Constipation	ORPHA:95719
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epine...	ORPHA:90794
Rauch-Steindl Syndrome	Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Bilateral renal ...	OMIM:619695
Combined Oxidative Phosphorylation Deficiency 3	Hyponatremia, Elevated circulating creatine kinase concentration, Feeding difficulties in infancy...	OMIM:610505
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Rabin-Pappas Syndrome	Hyponatremia, Feeding difficulties	OMIM:620155
Alpha-N-Acetylgalactosaminidase Deficiency	Constipation, Gastroesophageal reflux, Oligosacchariduria	ORPHA:3137
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level, Constipation, Feeding di...	ORPHA:95715
Seizures-Scoliosis-Macrocephaly Syndrome	Constipation, Gastroesophageal reflux, Abnormality of the kidney, Nausea	ORPHA:466926
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Hirschsprung Disease, Susceptibility To, 1	Abdominal distention, Constipation, Vomiting, Enterocolitis	OMIM:142623
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Feeding difficultie...	OMIM:618885
Wound Botulism	Constipation, Urinary retention, Dysphagia	ORPHA:178475
Optic Atrophy 11	Hyperactivity, Short stature, Stereotypical body rocking, Constipation, Attention deficit hyperac...	OMIM:617302
Peroxisome Biogenesis Disorder 8B	Constipation, Elevated circulating phytanic acid concentration, Decreased liver function, Dysphagia	OMIM:614877
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Poor appetite, Postnatal growth retardat...	OMIM:227810
Williams-Beuren Region Duplication Syndrome	Short stature, Unilateral renal agenesis, Feeding difficulties, Chronic constipation, Attention d...	OMIM:609757
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret...	OMIM:614732
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Gastroparesis, Intestinal pseudo-obstruction, Ab...	OMIM:603041
Idiopathic Congenital Hypothyroidism	Feeding difficulties in infancy, Constipation, Neonatal hyperbilirubinemia	ORPHA:95717
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Proteinuria, Feeding difficulties in infancy, Abnormality of t...	ORPHA:2162
Argininemia	Hyperactivity, Anorexia, Postnatal growth retardation, Hyperammonemia, Diaminoaciduria, Hyperargi...	OMIM:207800
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia, Vomiting	ORPHA:90790
Polymyositis	Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Anorexia, Abdomi...	ORPHA:732
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Chronic constipation, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Feeding difficulties, Hypokalemia, Gastroesophageal reflux, Vomiting, Poor suck	OMIM:618426
Neuroendocrine Tumor Of The Rectum	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Bowel urgency, Abdominal pain, Lack of bowel sounds, Protracted diarrhea, Hematochezia,...	ORPHA:100082
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Malnutrition, Dysphagia, Feeding difficulties, Growth delay, Decreased seru...	ORPHA:89842
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia, Feeding difficulties	ORPHA:529799
48,Xxyy Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation, Atte...	ORPHA:10
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Constipation, Dysphagia, Hy...	OMIM:618494
Volvulus Of Midgut	Abdominal distention, Constipation, Neonatal intestinal obstruction	OMIM:193250
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Hyperactivity, Hypospadias, Feeding difficulties, Chronic constipation, Tics, Inappropriate laugh...	ORPHA:363686
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Constipation, Short stature	ORPHA:2349
Primary Peritoneal Carcinoma	Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Constipation	ORPHA:168829
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation	ORPHA:160148
Familial Mediterranean Fever	Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Peritonitis, Sta...	OMIM:249100
Developmental And Epileptic Encephalopathy 90	Fetal pyelectasis, Constipation, Abdominal pain	OMIM:301058
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Tongue thrusting, Pica, Feeding difficulties, Stereotypical body rocking, Tics, Ga...	OMIM:617865
Cerebral Creatine Deficiency Syndrome 1	Short stature, Aggressive behavior, Feeding difficulties in infancy, Ileus, Elevated circulating ...	OMIM:300352
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal pseudo-obstruction, ...	OMIM:619350
Fatal Familial Insomnia	Constipation, Urinary retention, Dysphagia	OMIM:600072
Pseudomyxoma Peritonei	Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,...	ORPHA:26790
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Aggressive behavior, Feeding difficulties in infancy, Chronic constipation, Attention deficit hyp...	OMIM:618825
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Bowel incontinence, Aggress...	ORPHA:261494
Parkinsonism-Dystonia 1, Infantile-Onset	Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:613135
Spastic Paraplegia 20, Autosomal Recessive	Urinary urgency, Chronic constipation, Short stature, Dysphagia	OMIM:275900
Rheumatic Fever	Nausea and vomiting, Anorexia, Abdominal pain, Nephrotic syndrome, Constipation	ORPHA:3099
Coffin-Siris Syndrome 7	Hyperactivity, Short stature, Severe temper tantrums, Feeding difficulties, Constipation, Compuls...	OMIM:618027
Spastic Paraplegia 44, Autosomal Recessive	Constipation, Urinary incontinence	OMIM:613206
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Urinary retention, Constipation	ORPHA:254504
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia, Urinary incontinence, Aggressive behavior, Feeding difficulties in infancy, Poor s...	ORPHA:476126
Axial Mesodermal Dysplasia Spectrum	Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localiza...	ORPHA:1834
13Q12.3 Microdeletion Syndrome	Hyperactivity, Short stature, Vomiting, Constipation, Intrauterine growth retardation, Self-mutil...	ORPHA:412035
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Fetal megacystis, Constipation, Intr...	ORPHA:73246
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal renal morphology, Constipation, Gastroesophageal reflux, Abnormal temper tantrums, Oral ...	ORPHA:329224
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Hypospadias, Poor appetite, Postnatal growth retardation, Feeding difficulties in infancy, Horses...	ORPHA:96182
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Hypernatremia, Hypoalbuminemia, Eosinophilic infiltration of the esophagus	OMIM:615508
Solitary Fibrous Tumor	Hypophosphatemic rickets, Reduced C-peptide level, Constipation, Urinary retention	ORPHA:2126
19P13.3 Microduplication Syndrome	Hyperactivity, Growth delay, Self-injurious behavior, Gastroesophageal reflux, Constipation, Intr...	ORPHA:447980
Pituitary Apoplexy	Hyponatremia, Nausea and vomiting	ORPHA:95613
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Self-injurious behavior, Recurrent urinary tract infections, Chronic constipation, Feeding diffic...	OMIM:618707
Angelman Syndrome	Hyperactivity, Aggressive behavior, Gastrostomy tube feeding in infancy, Tongue thrusting, Poor s...	ORPHA:72
Intellectual Developmental Disorder, Autosomal Dominant 1	Short stature, Aggressive behavior, Postnatal growth retardation, Feeding difficulties, Self-inju...	OMIM:156200
Familial Thyroid Dyshormonogenesis	Feeding difficulties in infancy, Abnormal circulating thyroglobulin level, Constipation, Neonatal...	ORPHA:95716
Hypothyroidism, Congenital, Nongoitrous, 6	Growth delay, Constipation	OMIM:614450
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Feeding difficulties, Constipation, Compulsive behaviors, Abn...	OMIM:618430
Fg Syndrome 5	Chronic constipation, Hypospadias	OMIM:300581
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Abnormal eating behavior, Tongue thrusting, Feeding difficulties, Constipation, In...	ORPHA:98794
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Impulsivity, Aggressive behavior, Feeding difficulties in infancy, Chronic diarrhe...	ORPHA:500055
Microcephaly 27, Primary, Autosomal Dominant	Chronic constipation, Micropenis	OMIM:619180
Nizon-Isidor Syndrome	Hypospadias, Aggressive behavior, Feeding difficulties in infancy, Gastroesophageal reflux, Const...	OMIM:618872
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypospadias, Postnatal growth retardation, Hyposerinemia, Feeding difficulties, Gastroesophageal ...	ORPHA:79350
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Abnormal circulating cholesterol concentration, A...	ORPHA:399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Intrauterine growth retardation, Constipation, Urinary incontinence	OMIM:604320
Pituitary Dermoid And Epidermoid Cysts	Nausea and vomiting, Polydipsia	ORPHA:91351
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Constipation	OMIM:273390
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Urinary incontinence, Bowel incontinence, Elevated circulating creatine kinase concentration, Fee...	OMIM:617193
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Decreased liver...	ORPHA:167
Parkinson Disease, Late-Onset	Urinary urgency, Constipation, Dysphagia	OMIM:168600
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Short stature, Nasogastric tube feeding in infancy, Feeding difficulties, Self-injurious behavior...	ORPHA:371364
Intellectual Disability-Strabismus Syndrome	Hyperactivity, Hypospadias, Short stature, Impulsivity, Aggressive behavior, Feeding difficulties...	ORPHA:363528
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Stage 3 chronic kidney disease, Elevated circulating creatinine con...	OMIM:620366
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Neurogenic bladder, Urinary incontinence, Elevated circulating creatine kinase concentration, Bow...	ORPHA:496641
Schuurs-Hoeijmakers Syndrome	Feeding difficulties, Constipation, Aggressive behavior	OMIM:615009
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short stature, Aggressive behavior, Feeding difficulties, Self-injurious behavior, Chronic consti...	OMIM:300986
Temple-Baraitser Syndrome	Constipation, Gastroesophageal reflux	OMIM:611816
Emanuel Syndrome	Unilateral renal agenesis, Renal hypoplasia, Feeding difficulties, Growth delay, Gastroesophageal...	ORPHA:96170
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Feeding difficulties, Constipation, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:284169
Thyroid Dyshormonogenesis 1	Growth delay, Constipation	OMIM:274400
Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Growth delay, Neurogenic bladder, Constipation	ORPHA:466934
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Chronic constipation, Feeding difficulties, Short stature, Aggressive behavior	OMIM:619056
49,Xxxxy Syndrome	Hypoplasia of penis, Short stature, Renal hypoplasia/aplasia, Gastroesophageal reflux, Constipati...	ORPHA:96264
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Renal hypoplasia, Feeding difficul...	OMIM:609029
Autosomal Recessive Spastic Paraplegia Type 20	Short stature, Dysuria, Growth delay, Constipation, Dysphagia, Hydronephrosis	ORPHA:101000
Autosomal Recessive Dopa-Responsive Dystonia	Constipation, Feeding difficulties	ORPHA:101150
Methanol Poisoning	Abdominal pain, Hyperlipidemia, Diarrhea, Addictive alcohol use, Vomiting	ORPHA:31825
Silver-Russell Syndrome	Hypospadias, Short stature, Postnatal growth retardation, Feeding difficulties, Abnormality of th...	ORPHA:813
White-Sutton Syndrome	Duplicated collecting system, Hyperactivity, Short stature, Aggressive behavior, Poor suck, Feedi...	OMIM:616364
Pure Autonomic Failure	Dysuria, Constipation, Urinary incontinence	ORPHA:441
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia...	ORPHA:97278
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Constipation, Feeding difficulties	OMIM:616801
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Hypospadias, Repetitive compulsive behavior, Bruxism, Feeding difficulties, Chronic constipation,...	OMIM:300260
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Pontocerebellar Hypoplasia, Type 8	Constipation, Feeding difficulties, Gastroesophageal reflux, Dysphagia	OMIM:614961
Intellectual Developmental Disorder, Autosomal Dominant 61	Chronic constipation, Attention deficit hyperactivity disorder	OMIM:618009
Developmental And Epileptic Encephalopathy 47	Chronic constipation, Agitation, Feeding difficulties	OMIM:617166
Congenital Disorder Of Glycosylation, Type Ir	Chronic constipation, Gastroesophageal reflux, Decreased liver function	OMIM:614507
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Feeding difficulties, Chronic constipation, Hydronephrosis, Stereotypical hand wri...	OMIM:619179
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Self-injurious behavior, Constipation, High nonceruloplasmin-bound serum copper, Abnormal repetit...	ORPHA:457351
Immunodeficiency 82 With Systemic Inflammation	Gastritis, Elevated circulating C-reactive protein concentration, Anorexia, Abdominal pain, Diarr...	OMIM:619381
Young-Onset Parkinson Disease	Restless legs, Gastroparesis, Impulsivity, Diarrhea, Constipation, Agitation, Nausea	ORPHA:2828
Fg Syndrome 3	Chronic constipation, Hyperactivity, Feeding difficulties	OMIM:300406
Niemann-Pick Disease, Type A	Short stature, Feeding difficulties in infancy, Constipation, Vomiting, Protuberant abdomen	OMIM:257200
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potassium, Hyperkalemia, Urin...	ORPHA:79102
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Hyperkalemia	ORPHA:293978
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Proteinuria, Abdominal pain, ...	ORPHA:342
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abno...	ORPHA:847
Radio-Tartaglia Syndrome	Impulsivity, Aggressive behavior, Gastroesophageal reflux, Constipation, Attention deficit hypera...	OMIM:619312
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Poor suck, Growth delay, Gastroesophag...	OMIM:301040
Peritoneal Cystic Mesothelioma	Abdominal distention, Peritonitis, Constipation, Abdominal pain	ORPHA:168816
Chromosome Xq13 Duplication Syndrome	Hyperactivity, Aggressive behavior, Chronic constipation, Attention deficit hyperactivity disorde...	OMIM:301069
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Pseudobulbar paralysis, Constipation, Bowel incontinence	OMIM:169500
Toxin-Mediated Infectious Botulism	Constipation, Dysphagia	ORPHA:230800
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Chronic constipation, Hydronephrosis	OMIM:618060
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation, Urinary incontinence	OMIM:608654
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short stature, Pica, Feeding difficulties, Gastroesophageal reflux, Constipation, Intrauterine gr...	OMIM:617360
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Constipation, Abdominal pain	ORPHA:99745
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Rett Syndrome	Short stature, Gastroesophageal reflux, Constipation, Bruxism, Stereotypical hand wringing	OMIM:312750
Wiedemann-Steiner Syndrome	Hyperactivity, Short stature, Aggressive behavior, Postnatal growth retardation, Feeding difficul...	OMIM:605130
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Abnormal circulating porphyrin concentration, Incre...	ORPHA:101330
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Renal neoplasm, Nausea and vomiting, Abdominal pain, Abnormal circul...	ORPHA:440437
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Abdom...	ORPHA:653
Intellectual Developmental Disorder, Autosomal Dominant 43	Hyperactivity, Impulsivity, Aggressive behavior, Feeding difficulties, Chronic constipation, Gast...	OMIM:616977
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Constipation, Gastroesophageal reflux, Elevated circulating creatine kinase concentration, Gastro...	OMIM:610131
Infantile Neuroaxonal Dystrophy	Hyperactivity, Constipation, Impulsivity, Choking episodes	ORPHA:35069
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Gastroesophageal reflux, Feeding difficulties, Short stature, Chronic constipation	OMIM:616577
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Abdominal pain, Malnutri...	OMIM:229600
Isolated Thyroid-Stimulating Hormone Deficiency	Feeding difficulties in infancy, Growth delay, Constipation, Attention deficit hyperactivity diso...	ORPHA:90674
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia...	ORPHA:97283
Behr Syndrome	Chronic constipation, Dysphagia	OMIM:210000
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ileus, Feeding difficul...	OMIM:613327
16P12.1P12.3 Triplication Syndrome	Nail-biting, Hyperactivity, Chronic constipation, Attention deficit hyperactivity disorder, Skin-...	ORPHA:485405
Nabais Sa-De Vries Syndrome, Type 2	Feeding difficulties in infancy, Chronic constipation, Multicystic kidney dysplasia, Gastroesopha...	OMIM:618829
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Nausea, Hyperkalemia, Renal tubular epithelial necrosis, Renal tu...	ORPHA:31826
Juvenile Dermatomyositis	Calcinosis, Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Elev...	ORPHA:93672
48,Xxxy Syndrome	Hypoplasia of penis, Gastroesophageal reflux, Constipation, Attention deficit hyperactivity disor...	ORPHA:96263
Leukodystrophy, Hypomyelinating, 12	Neurogenic bladder, Constipation	OMIM:616683
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Pica, Feeding difficulties, Chronic constipation, Obsessive-compulsive trait, Abno...	OMIM:617796
Skraban-Deardorff Syndrome	Constipation, Feeding difficulties	OMIM:617616
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia...	ORPHA:97261
Developmental And Epileptic Encephalopathy 31B	Feeding difficulties, Constipation, Tube feeding, Choking episodes	OMIM:620352
Hogue-Janssen Syndrome 2	Chronic constipation, Unilateral renal agenesis	OMIM:616362
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Hypercalcemia, Anorexia...	ORPHA:97280
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Feeding difficulties, Self-injurious behavior, Chronic constipation, Compuls...	OMIM:617061
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Gastrointestinal dysmotility, Feeding difficulties, Self-injurious behavior,...	ORPHA:466943
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Gastroesophageal reflux, Constipation	OMIM:611961
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Feeding difficulties in infancy, Abdominal distention, Constipation, Protuberant abdomen	ORPHA:226313
Pontocerebellar Hypoplasia, Type 13	Constipation, Decreased liver function, Feeding difficulties	OMIM:618606
Central Hypoventilation Syndrome, Congenital, 3	Chronic constipation, Episodic vomiting, Feeding difficulties	OMIM:619483
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Diarrhea, Intermittent diarrhea, Feeding difficulties, Constipation, Attention def...	OMIM:618050
Melas	Proteinuria, Short stature, Intestinal pseudo-obstruction, Diarrhea, Gastrointestinal dysmotility...	ORPHA:550
Developmental And Epileptic Encephalopathy 83	Feeding difficulties in infancy, Chronic constipation, Poor suck	OMIM:618744
Fg Syndrome Type 1	Short stature, Hypospadias, Gastroesophageal reflux, Constipation, Attention deficit hyperactivit...	ORPHA:93932
Neuroendocrine Neoplasm Of Appendix	Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Poor a...	ORPHA:100079
Amyloidosis, Hereditary, Transthyretin-Related	Episodic vomiting, Diarrhea, Constipation, Urinary incontinence	OMIM:105210
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Den Hoed-De Boer-Voisin Syndrome	Recurrent urinary tract infections, Agitation, Gastroesophageal reflux, Constipation, Dysphagia, ...	OMIM:619229
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Aggressive behavior, Self-injurious behavior, Pelvic kidney, Gastroesophageal reflux, Attention d...	ORPHA:466950
Waardenburg-Shah Syndrome	Intestinal obstruction, Constipation, Abdominal pain	ORPHA:897
Leukodystrophy, Hypomyelinating, 20	Chronic constipation, Feeding difficulties	OMIM:619071
Genetic Transient Congenital Hypothyroidism	Constipation, Increased circulating thyroglobulin level, Feeding difficulties	ORPHA:226316
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Nasogastric tube feeding in infancy, Gastrointestinal dysmotility, Gastroesophageal reflux, Const...	ORPHA:453499
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Growth delay, Malnutrition, Constipation, Dysphagia	OMIM:226600
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Chronic constipation	OMIM:619465
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Short stature, Head-banging, Feeding difficulties, Hematochezia, Renal tubular acidosis, Self-inj...	OMIM:619575
Chops Syndrome	Short stature, Gastroparesis, Horseshoe kidney, Gastroesophageal reflux, Constipation, Vesicouret...	OMIM:616368
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Renal cyst, Hypoalbuminemia, Vomiting, Gastroesophageal reflux, Hyp...	OMIM:270400
Pitt-Hopkins Syndrome	Aggressive behavior, Postnatal growth retardation, Feeding difficulties, Growth delay, Self-injur...	ORPHA:2896
Gastrointestinal Stromal Tumor	Intestinal obstruction, Constipation, Dysphagia	OMIM:606764
Thyroid Hypoplasia	Growth delay, Abdominal distention, Constipation, Short stature	ORPHA:95720
Magel2-Related Prader-Willi-Like Syndrome	Short stature, Impulsivity, Xerostomia, Poor suck, Feeding difficulties, Chronic constipation, Ga...	ORPHA:398069
Kapur-Toriello Syndrome	Intrauterine growth retardation, Micropenis, Abnormality of the urinary system, Constipation	OMIM:244300
Temple-Baraitser Syndrome	Constipation, Short stature	ORPHA:420561
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Basel-Vanagaite-Smirin-Yosef Syndrome	Gastroesophageal reflux, Constipation, Hypospadias, Hydronephrosis	OMIM:616449
Imerslund-Gräsbeck Syndrome	Constipation, Proteinuria, Vomiting, Poor appetite	ORPHA:35858
Intellectual Developmental Disorder, Autosomal Dominant 64	Growth delay, Chronic constipation, Attention deficit hyperactivity disorder, Feeding difficulties	OMIM:619188
Multiple System Atrophy, Cerebellar Type	Constipation, Neuromuscular dysphagia	ORPHA:227510
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Gastroesophageal reflux, Constipation, Short stature, Feeding difficulties	ORPHA:562528
Cardiofaciocutaneous Syndrome 1	Short stature, Feeding difficulties in infancy, Tongue thrusting, Gastroesophageal reflux, Vomiti...	OMIM:115150
Angelman Syndrome	Feeding difficulties in infancy, Hyperactivity, Constipation, Paroxysmal bursts of laughter	OMIM:105830
Cataracts, Spastic Paraparesis, And Speech Delay	Chronic constipation	OMIM:619338
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Poor appetite, Aggressive behavior, Gastrointestinal dysmotility, Feeding difficul...	OMIM:617799
Intellectual Developmental Disorder, Autosomal Dominant 68	Urinary incontinence, Feeding difficulties, Constipation, Gastroesophageal reflux, Attention defi...	OMIM:619934
Hypothyroidism Due To Tsh Receptor Mutations	Feeding difficulties in infancy, Constipation, Increased circulating thyroglobulin level, Neonata...	ORPHA:90673
Brain-Lung-Thyroid Syndrome	Hyperactivity, Hypospadias, Short stature, Abnormal eating behavior, Megacystis, Abnormal drinkin...	ORPHA:209905
Hartsfield Syndrome	Growth delay, Micropenis, Hypernatremia, Hypospadias	OMIM:615465
Hereditary Late-Onset Parkinson Disease	Impulsivity, Spastic/hyperactive bladder, Chronic constipation, Agitation, Dysphagia	ORPHA:411602
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroparesis, Elevated circulating creatine kinase concentration, Constipation, Gastroesophageal...	ORPHA:254892
Developmental Delay, Hypotonia, And Impaired Language	Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:620012
Floating-Harbor Syndrome	Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Short stature, Dilat...	ORPHA:2044
Rahman Syndrome	Chronic constipation, Feeding difficulties	OMIM:617537
Kapur-Toriello Syndrome	Hypoplasia of penis, Constipation	ORPHA:2328
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Hyperactivity, Short stature, Abnormal repetitive mannerisms,...	OMIM:615873
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Postnatal growth retardation, Constipation, Gastroesophageal reflux, Attention deficit hyperactiv...	OMIM:620029
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hypospadias, Hyperkalemia, Horseshoe kidney, Micropenis, Chordee, Vesicovaginal fis...	OMIM:201750
White-Sutton Syndrome	Duplicated collecting system, Hyperactivity, Short stature, Aggressive behavior, Feeding difficul...	ORPHA:468678
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Diarrhea, Tongue thrusting, Constipation, Gastroesophageal reflux	OMIM:608643
Mucopolysaccharidosis Type 3	Hyperactivity, Aggressive behavior, Heparan sulfate excretion in urine, Hypersexuality, Mucopolys...	ORPHA:581
Developmental And Epileptic Encephalopathy 102	Chronic constipation, Gastroesophageal reflux	OMIM:619881
Pitt-Hopkins Syndrome	Self-injurious behavior, Constipation, Gastroesophageal reflux, Micropenis, Abnormal repetitive m...	OMIM:610954
Alternating Hemiplegia Of Childhood	Impulsivity, Aggressive behavior, Anorexia, Oral-pharyngeal dysphagia, Diarrhea, Gastrointestinal...	ORPHA:2131
9Q33.3Q34.11 Microdeletion Syndrome	Abnormality of the kidney, Constipation, Esophagitis, Dysphagia, Micropenis	ORPHA:495818
Rett Syndrome, Congenital Variant	Tongue thrusting, Feeding difficulties, Gastroesophageal reflux, Constipation, Bruxism, Abnormal ...	OMIM:613454
Angiostrongyliasis	Projectile vomiting, Poor appetite, Abdominal pain, Constipation, Vomiting, Nausea	ORPHA:74
Rubinstein-Taybi Syndrome	Feeding difficulties in infancy, Constipation, Short stature, Attention deficit hyperactivity dis...	ORPHA:783
Qazi-Markouizos Syndrome	Chronic constipation, Abdominal distention	ORPHA:3010
Musculocontractural Ehlers-Danlos Syndrome	Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Constipation, Hydroneph...	ORPHA:2953
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Urinary incontinence, Feeding difficulties, Chronic constipation, G...	OMIM:619482
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Feeding difficulties, Gastroesophageal re...	OMIM:616580
Developmental And Epileptic Encephalopathy 51	Constipation, Feeding difficulties	OMIM:617339
Adnp Syndrome	Recurrent urinary tract infections, Short stature, Urinary incontinence, Aggressive behavior, Ora...	ORPHA:404448
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Intrauterine growth retardation, Feeding difficulties, Short stature, Chronic constipation	OMIM:617452
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Vomiting, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Restrictive beh...	OMIM:619475
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Aggressive behavior, Constipation, Male urethral meatus stenosis, Hydronephrosis	ORPHA:464738
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Chronic constipation, Poor suck, Attention deficit hyperactivity disorder, Feeding difficulties	OMIM:619383
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting	OMIM:142680
Adiposis Dolorosa	Constipation, Xerostomia, Diarrhea	ORPHA:36397
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Chronic constipation, Attention deficit hyperactivity disorder, Compulsive behaviors, Feeding dif...	ORPHA:404440
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Chronic diarrhea, Chronic constipation, Attention deficit hyperactivity disorder, Intrauterine gr...	OMIM:619005
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Chronic constipation	OMIM:300676
Proximal Spinal Muscular Atrophy	Gastroparesis, Constipation, Gastroesophageal reflux, Dysphagia, Poor suck	ORPHA:70
Neurodevelopmental Disorder With Spasticity And Poor Growth	Short stature, Feeding difficulties, Growth delay, Chronic constipation, Gastroesophageal reflux,...	OMIM:618076
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	Constipation, Gastroesophageal reflux	OMIM:616266
Acute Lung Injury	Increased circulating surfactant protein level, Addictive alcohol use, Elevated circulating C-rea...	ORPHA:178320
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Gastroesophageal reflux, Short stature, Chronic constipation	OMIM:619721
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Kagami-Ogata Syndrome	Postnatal growth retardation, Feeding difficulties, Constipation, Dysphagia, Poor suck	ORPHA:254519
Al-Raqad Syndrome	Chronic constipation	OMIM:616459
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Malnutrition, Urinary urgency, Constipation, Urinary retentio...	ORPHA:99027
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Hypospadias, Short stature, Unilateral renal agenesis, Aggressive b...	ORPHA:96121
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hyperactivity, Hypospadias, Short stature, Impulsivity, Aggre...	ORPHA:353281
Multiple Endocrine Neoplasia Type 1	Hypercalcemia, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Hypercalciuria, Nephrolithiasis, ...	ORPHA:652
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Intrauterine growth retardation, Feeding difficulties, Short stature, Chronic constipation	ORPHA:505237
Basilicata-Akhtar Syndrome	Chronic constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:301032
Williams-Beuren Syndrome	Feeding difficulties in infancy, Nephrocalcinosis, Gastroesophageal reflux, Vesicoureteral reflux...	OMIM:194050
Acute Transverse Myelitis	Decreased circulating copper concentration, Urinary incontinence, Gastroparesis, Paralytic ileus,...	ORPHA:139417
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Oral-pharyngeal dysphagia, Postnatal growth retardation, Gastroesophageal reflux, Constipation, A...	OMIM:300966
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Constipation, Dysphagia	ORPHA:44890
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Feeding difficulties in infancy, Abdominal distention,...	OMIM:218700
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Short stature, Unilateral renal agenesis, Aggres...	ORPHA:268261
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Abnormal renal morphology, Constipation, Feeding difficulties	OMIM:239300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Di...	ORPHA:32960
Developmental And Epileptic Encephalopathy 2	Gastroesophageal reflux, Constipation, Abnormal repetitive mannerisms	OMIM:300672
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Aggressive behavior, Tongue thrusting, Enuresis, Constipation, Compulsive behaviors	ORPHA:369950
Pitt-Hopkins-Like Syndrome 2	Gastroesophageal reflux, Constipation, Feeding difficulties	OMIM:614325
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gastroparesis, Intestinal pseudo-obstruction, Feeding difficulties in infancy, Nasogastric tube f...	ORPHA:352665
Pontocerebellar Hypoplasia, Type 10	Growth delay, Constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:615803
X-Linked Intellectual Disability, Nascimento Type	Hypospadias, Aggressive behavior, Chronic constipation, Compulsive behaviors, Vesicoureteral refl...	ORPHA:163956
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Chronic constipation, Hyperactivity, Gastroesophageal reflux	OMIM:619720
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Encopresis, Feeding difficulties, Constipation, Gastroesophageal reflux, Abnormal re...	OMIM:616682
Multiple System Atrophy	Constipation	ORPHA:102
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypospadias, Short stature, Bowel incontinence, Feeding difficulties...	ORPHA:567
Lynch Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Constipation, Attention deficit...	ORPHA:144
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Gastrointestinal ob...	OMIM:176450
Nk-Cell Enteropathy	Abdominal pain, Diarrhea, Hematochezia, Gastroesophageal reflux, Constipation	ORPHA:263665
Pudendal Neuralgia	Abdominal colic, Dysuria, Episodic abdominal pain, Pollakisuria, Constipation	ORPHA:60039
Multiple System Atrophy, Parkinsonian Type	Constipation	ORPHA:98933
Opitz-Kaveggia Syndrome	Constipation, Short stature, Hypospadias, Attention deficit hyperactivity disorder	OMIM:305450
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Constipation, Chordee, Short stature, Feeding difficulties	OMIM:616728
Kinsship Syndrome	Short stature, Renal hypoplasia, Horseshoe kidney, Chronic constipation, Gastroesophageal reflux,...	OMIM:619297
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Short stature, Decreased serum iron, Nephrolithiasis, Feeding difficulties, Gastroesophageal refl...	ORPHA:438213
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhe...	OMIM:301074
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Co...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Gastroesophageal reflux, Co...	ORPHA:353277
Multiple Endocrine Neoplasia, Type Iib	Diarrhea, Constipation, Elevated urinary epinephrine level	OMIM:162300
Kaufman Oculocerebrofacial Syndrome	Feeding difficulties in infancy, Constipation, Short stature, Hypocholesterolemia	OMIM:244450
Jacobsen Syndrome	Multicystic kidney dysplasia, Short stature, Feeding difficulties in infancy, Growth delay, Const...	ORPHA:2308
Congenital Heart Defects And Skeletal Malformations Syndrome	Intrauterine growth retardation, Hypospadias, Short stature, Chronic constipation	OMIM:617602
Developmental And Epileptic Encephalopathy 95	Constipation, Inappropriate laughter, Feeding difficulties	OMIM:618143
Alexander Disease	Nausea and vomiting, Bowel incontinence, Self-injurious behavior, Constipation, Dysphagia	ORPHA:58
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Constipation, Short stature	OMIM:618493
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Short stature, Unilateral renal agenesis, Postnatal growth retardation, Feeding difficulties, Chr...	OMIM:213980
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Eales Disease	Constipation	ORPHA:40923
Ohdo Syndrome, X-Linked	Micropenis, Constipation, Feeding difficulties	OMIM:300895
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Feeding difficulties ...	ORPHA:1606
Deeah Syndrome	Short stature, Chronic diarrhea, Chronic constipation, Dysphagia, Intrauterine growth retardation...	OMIM:619004
Okur-Chung Neurodevelopmental Syndrome	Feeding difficulties, Constipation, Attention deficit hyperactivity disorder, Frequent temper tan...	OMIM:617062
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased LDL cholesterol concentration, Generalized aminoaciduria, Chronic constipation, Impaire...	ORPHA:404454
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Feeding difficulties in infancy, Chronic constipation, Abnormal renal morphology	ORPHA:477817
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Constipation, Absent pubertal growth spurt	OMIM:250250
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Self-injurious behavior, Chronic constipation, Attention deficit hyperactivity disorder, Aggressi...	ORPHA:544488
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Dilatation of the renal pelvis, Abnormality of the urinar...	ORPHA:95699
Nicolaides-Baraitser Syndrome	Short stature, Aggressive behavior, Feeding difficulties, Growth delay, Constipation, Attention d...	OMIM:601358
Chromosome 6Pter-P24 Deletion Syndrome	Chronic constipation	OMIM:612582
Thyroid Ectopia	Growth delay, Abdominal distention, Constipation, Short stature	ORPHA:95712
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Pituitary dwarfism, Feeding difficulties in infancy, Growth delay, Constipation, Abnormal circula...	ORPHA:226307
Ramos-Arroyo Syndrome	Severe short stature, Feeding difficulties in infancy, Xerostomia, Chronic constipation, Self-mut...	ORPHA:1051
Combined Oxidative Phosphorylation Deficiency 25	Chronic constipation, Short stature, Feeding difficulties	OMIM:616430
Rubinstein-Taybi Syndrome 1	Hyperactivity, Hypospadias, Short stature, Impulsivity, Postnatal growth retardation, Feeding dif...	OMIM:180849
Semilobar Holoprosencephaly	Short stature, Feeding difficulties, Growth delay, Vomiting, Gastroesophageal reflux, Attention d...	ORPHA:220386
Alobar Holoprosencephaly	Short stature, Feeding difficulties, Growth delay, Vomiting, Gastroesophageal reflux, Attention d...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Short stature, Feeding difficulties, Growth delay, Vomiting, Gastroesophageal reflux, Attention d...	ORPHA:93926
Lobar Holoprosencephaly	Short stature, Feeding difficulties, Growth delay, Vomiting, Gastroesophageal reflux, Attention d...	ORPHA:93924
Trisomy 8P	Fetal pyelectasis, Nephrocalcinosis, Constipation, Micropenis, Hydronephrosis	ORPHA:264450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short stature, Impulsivity, Feeding difficulties, Unilateral renal hypoplasia, Growth delay, Chro...	OMIM:619950
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Short stature, Hypospadias, Horseshoe kidney, Gastroesophageal reflux, Constipation, Vesicoureter...	ORPHA:444077
Spondyloepimetaphyseal Dysplasia, Krakow Type	Constipation, Rhizomelia, Feeding difficulties	OMIM:618162
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis...	ORPHA:821
Osteogenesis Imperfecta	Intestinal obstruction, Rhizomelia, Short stature, Hypercalciuria, Nephrolithiasis, Growth delay,...	ORPHA:666
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Unilateral renal agenesis, Feeding difficulties, Chronic constipation, Bilateral ren...	OMIM:619194
Kilquist Syndrome	Gastroesophageal reflux, Feeding difficulties, Xerostomia, Chronic constipation	OMIM:619080
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Mosaic Trisomy 20	Intrauterine growth retardation, Chronic constipation, Abnormality of the kidney, Horseshoe kidney	ORPHA:1724
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Hyperactivity, Hypospadias, Short stature, Renal hypoplasia, Vomiting, Gastroesophageal reflux, C...	OMIM:309580
Yuan-Harel-Lupski Syndrome	Chronic constipation, Feeding difficulties	OMIM:616652
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Chronic constipation	OMIM:619352
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Aggressive behavior, Oral-pharyngeal dysphagia, Nasogastric tube f...	ORPHA:273
Sacral Defect With Anterior Meningocele	Neurogenic bladder, Urinary retention, Constipation	OMIM:600145
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Chronic constipation, Short stature	OMIM:300472
Turcot Syndrome With Polyposis	Abdominal pain, Diarrhea, Hematochezia, Melena, Constipation, Vomiting, Nausea	ORPHA:99818
Chromosome 1P36 Deletion Syndrome, Distal	Hypospadias, Aggressive behavior, Ectopic kidney, Feeding difficulties in infancy, Growth delay, ...	OMIM:607872
Mucopolysaccharidosis, Type Vi	Chronic constipation, Short stature, Dermatan sulfate excretion in urine, Disproportionate short-...	OMIM:253200
Turnpenny-Fry Syndrome	Feeding difficulties in infancy, Chronic constipation, Constipation, Gastroesophageal reflux, Att...	OMIM:618371
Acromesomelic Dysplasia 4	Chronic constipation, Rhizomelia, Disproportionate short stature, Short stature	OMIM:619636
C Syndrome	Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Horseshoe kidney, Constipa...	ORPHA:1308
Witteveen-Kolk Syndrome	Hyperactivity, Hypospadias, Short stature, Phimosis, Aggressive behavior, Feeding difficulties in...	OMIM:613406
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Feeding difficulties in infancy, Repetitive compulsive behavior, Stereotypical body rocking, Cons...	ORPHA:513456
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Constipation	OMIM:613603
Developmental And Epileptic Encephalopathy 100	Gastroesophageal reflux, Abnormal repetitive mannerisms, Chronic constipation, Dysphagia	OMIM:619777
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Nephrotic syndrome, Constipation, Hydronephrosis	OMIM:601776
Aicardi Syndrome	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Delayed puberty	ORPHA:50
Malt Lymphoma	Nausea and vomiting, Constipation, Abdominal pain	ORPHA:52417
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Feeding difficulties in infancy, Chronic constipation, Short stature, Feeding difficulties	OMIM:617506
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Unilateral renal agenesis, Impulsivity, Bruxism, Dysphagia, Feeding difficulties, Urinary urgency...	OMIM:619503
Mowat-Wilson Syndrome	Urinary incontinence, Gastrointestinal dysmotility, Vomiting, Vesicoureteral reflux, Webbed penis...	ORPHA:2152
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Chronic constipation, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:301066
Mogs-Cdg	Chronic constipation, Nasogastric tube feeding	ORPHA:79330
Faundes-Banka Syndrome	Feeding difficulties in infancy, Dysphagia, Chronic constipation, Gastroesophageal reflux, Delaye...	OMIM:619376
Coffin-Siris Syndrome 12	Short stature, Hypospadias, Horseshoe kidney, Feeding difficulties, Chronic constipation, Gastroe...	OMIM:619325
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Elevated circulatin...	OMIM:256040
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Constipation, Aggressive behavior	ORPHA:314647
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Bowel incontinenc...	ORPHA:261537
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Ileus, Constipation, Abdominal pain	ORPHA:163746
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Short stature, Bowel incontinenc...	ORPHA:261552
Mowat-Wilson Syndrome	Hypospadias, Abnormality of the kidney, Short stature, Abdominal distention, Constipation, Vomiting	OMIM:235730
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Constipation	OMIM:305100
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Short stature, Growth delay, Constipation, Delayed puberty	ORPHA:90695
Curry-Jones Syndrome	Chronic constipation, Intestinal pseudo-obstruction	OMIM:601707
Central Hypoventilation Syndrome, Congenital, 1	Chronic constipation, Ineffective esophageal peristalsis, Feeding difficulties	OMIM:209880
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Short stature, Aggressive behavior, Chronic constipation, Gastroesophageal reflux,...	OMIM:614756
Lambert-Eaton Myasthenic Syndrome	Constipation, Xerostomia	ORPHA:43393
Menke-Hennekam Syndrome 2	Chronic constipation	OMIM:618333
Hypermobile Ehlers-Danlos Syndrome	Nausea and vomiting, Gastrointestinal dysmotility, Cystocele, Constipation, Gastroesophageal reflux	ORPHA:285
Classical Ehlers-Danlos Syndrome	Bladder diverticulum, Chronic constipation, Vomiting, Gastroesophageal reflux, Nausea	ORPHA:287
Viss Syndrome	Chronic gastritis, Short stature, Abdominal distention, Chronic diarrhea, Feeding difficulties, C...	OMIM:619472
Combined Pituitary Hormone Deficiencies, Genetic Forms	Growth delay, Pituitary dwarfism, Constipation, Delayed puberty	ORPHA:95494
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Chronic constipation, Gastroesophageal reflux, Feeding difficulties	OMIM:619480
Knobloch Syndrome 2	Chronic constipation	OMIM:618458
Menke-Hennekam Syndrome 1	Chronic constipation, Gastroesophageal reflux, Feeding difficulties	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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