Gene: Clmp MGI:1918816

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

CXADR-like membrane protein

Synonyms:

9030425E11Rik

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 Clmp 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 Clmp (2 diseases)
Human diseases predicted to be associated with Clmp (577 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Short Bowel Syndrome		Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom...	OMIM:615237
Congenital Short Bowel Syndrome		Intestinal malrotation, Displacement of the urethral meatus, Short stature, Intestinal hypoplasia	ORPHA:2301

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

Disease	Matching phenotypes	Source
Visceral Myopathy 2	Gastroesophageal reflux, Esophageal stricture, Ineffective esophageal peristalsis, Barrett esopha...	OMIM:619350
Mungan Syndrome	Vesicoureteral reflux, Hypoperistalsis, Barrett esophagus, Megaduodenum, Abdominal pain, Renal hy...	OMIM:611376
Oculogastrointestinal Muscular Dystrophy	Abnormal gastric mucosa morphology, Abnormality of the gastrointestinal tract, Malabsorption, Cac...	ORPHA:1876
Visceral Myopathy 1	Vesicoureteral reflux, Vomiting, Diarrhea, Urinary retention, Megaduodenum, Aganglionic megacolon...	OMIM:155310
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal agenesis, Abnormality...	OMIM:617805
Visceral Myopathy, Familial, With External Ophthalmoplegia	Abdominal pain, Abdominal distention, Malnutrition, Spontaneous esophageal perforation, Gastropar...	OMIM:277320
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Diarrhea, Cachexia, Early satiety, Dysphagia, Slender build, Distal amyotrop...	OMIM:603041
Congenital Primary Megaureter	Vesicoureteral reflux, Congenital megaureter, Recurrent urinary tract infections, Microscopic hem...	ORPHA:617
Systemic Sclerosis	Flexion contracture, Abnormal large intestine morphology, Abnormal stomach morphology, Elevated c...	ORPHA:90291
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroesophageal reflux, Facial palsy, Generalized hypotonia, Elevated circulating creatine kinas...	OMIM:610131
Al Amyloidosis	Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ...	ORPHA:85443
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Gastroesophageal reflux, Vesicoureteral reflux, Neurogenic bladder, Recurrent urinary tract infec...	OMIM:191800
X-Linked Intellectual Disability, Schimke Type	Knee flexion contracture, Vesicoureteral reflux, Spasticity, Gastrostomy tube feeding in infancy,...	ORPHA:85285
Diarrhea 7, Protein-Losing Enteropathy Type	Vomiting, Diarrhea, Villous atrophy, Abdominal colic, Failure to thrive, Protein-losing enteropat...	OMIM:615863
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Anal atresia, Hypotonia, Abnormal localization of kidney...	ORPHA:195
Desmoid Tumor	Malabsorption, Abnormality of the upper urinary tract, Abdominal pain, Intestinal polyposis, Inte...	ORPHA:873
Proximal Spinal Muscular Atrophy	Knee flexion contracture, Gastroesophageal reflux, Flexion contracture, Poor suck, Multiple joint...	ORPHA:70
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Spastic diplegia, Feeding difficulties in infancy...	OMIM:300048
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Constipation, Cryptorchidism, Enuresis, Urethral...	OMIM:236730
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy...	OMIM:143400
Homozygous 11P15-P14 Deletion Syndrome	Vomiting, Diarrhea, Feeding difficulties in infancy, Generalized aminoaciduria, Failure to thrive...	OMIM:606528
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Abdominal pain, Abdominal d...	ORPHA:103907
Diarrhea 5, With Tufting Enteropathy, Congenital	Villous atrophy, Small for gestational age, Intractable diarrhea, Failure to thrive, Crypt hyperp...	OMIM:613217
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Intestinal pseudo-obstr...	ORPHA:70595
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Bifid uvula, Hydronephrosis	ORPHA:2669
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Urinary incontinence, Spasticity, Rigidity, Hypotonia, Hypertonia, Bowel incontinence, Dystonia, ...	OMIM:618877
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr...	OMIM:618270
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Steatorrhea, Failure to thrive, Growth delay, Chron...	OMIM:613291
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Small for gestational age, Generalized hypotonia, Failure to thrive,...	OMIM:614052
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Growth delay	OMIM:251850
Hinman Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Bowel incontinence, Enur...	ORPHA:84085
Chops Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Short stature, Horseshoe kidney, Constipation, Ob...	OMIM:616368
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Vomiting, Hepatic failure, Diarrhea, Villous atrophy, Generalized hypotonia...	OMIM:602579
Congenital Myopathy 19	High palate, Congenital contracture, Generalized hypotonia, Renal atrophy, Facial hypotonia, Skel...	OMIM:618578
Alg1-Cdg	Nephrotic syndrome, Abnormality of the gastrointestinal tract, Abnormality of the kidney, Protein...	ORPHA:79327
Renal Hypoplasia	Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec...	ORPHA:93101
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated circulating creatine kinase concentration, Facial diplegia, Hypertonia, Dysphagia, Facia...	ORPHA:254892
Dysmyelination With Jaundice	Hydroureter, Hydronephrosis, Hypoplasia of penis, Cryptorchidism	OMIM:224250
Fanconi Anemia, Complementation Group O	Short stature, Stage 5 chronic kidney disease, Anal atresia, Renal cyst, Small thenar eminence, N...	OMIM:613390
Macdermot-Winter Syndrome	Intrauterine growth retardation, Hypoplastic male external genitalia, Hydronephrosis	OMIM:247990
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Weigh...	OMIM:607459
Bardet-Biedl Syndrome 19	Hypogonadism, External genital hypoplasia, Renal hypoplasia, Renal insufficiency, Obesity, Hydron...	OMIM:615996
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastroesophageal reflux, Poor suck, Weight loss, Poor appetite, Nausea and vomiting, Abnormal lar...	ORPHA:2198
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Urofacial Syndrome 2	Vesicoureteral reflux, Recurrent urinary tract infections, Urinary urgency, Bladder trabeculation...	OMIM:615112
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Failure to thrive, Duplicated collecting system, Intrauterine growth retardation, Postnatal growt...	OMIM:617093
Prune Belly Syndrome	Urogenital sinus anomaly, Vesicoureteral reflux, Multicystic kidney dysplasia, Recurrent urinary ...	ORPHA:2970
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Anal atresia, Hydronephrosis	OMIM:235760
Humero-Radio-Ulnar Synostosis	Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Inflammatory Bowel Disease (Crohn Disease) 30	Bloody diarrhea, Vomiting, Pancolitis, Abdominal pain, Ileitis, Abnormal intestine morphology, Ga...	OMIM:619079
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Vesicoureteral Reflux 3	Ureter duplex, Recurrent urinary tract infections, Hydroureter, Chronic constipation, Grade IV ve...	OMIM:613674
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Projectile vom...	OMIM:615237
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Rhabdomyolysis, Rigidity, Gastroparesis, EMG: myo...	OMIM:157640
Atresia Of Small Intestine	Vomiting, Jejunal atresia, Short stature, Abdominal distention, Intestinal malrotation, Failure t...	ORPHA:1201
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma...	ORPHA:1834
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Image Syndrome	Hypogonadism, Hypospadias, Cryptorchidism, Intrauterine growth retardation, Hydronephrosis	ORPHA:85173
Diarrhea 9	Failure to thrive, Diarrhea, Villous atrophy	OMIM:618168
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Renal agenesis, Anal atresia, Ureteral dysgenesis, Intrauterine growth retarda...	OMIM:274265
Secondary Short Bowel Syndrome	Vomiting, Enterocolitis, Diarrhea, Weight loss, Small intestinal dysmotility, Villous atrophy, Ag...	ORPHA:95427
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Nasogastric tube feeding in infancy, Bifid tongue, Exaggerated median tong...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Nasogastric tube feeding in infancy, Bifid tongue, Exaggerated median tong...	ORPHA:352665
Ochoa Syndrome	Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Constipation, Cr...	ORPHA:2704
Peutz-Jeghers Syndrome	Stomach cancer, Vomiting, Abnormality of the gastrointestinal tract, Renal cell carcinoma, Esopha...	ORPHA:2869
Mgat2-Cdg	Gastroesophageal reflux, Gastrostomy tube feeding in infancy, Generalized hypotonia, Failure to t...	ORPHA:79329
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Congenital Enterocyte Heparan Sulfate Deficiency	Diarrhea, Weight loss, Abdominal distention, Abnormal circulating protein concentration, Protein-...	ORPHA:103910
Acute Transverse Myelitis	Urinary incontinence, Spasticity, Urinary bladder sphincter dysfunction, Urinary retention, Paral...	ORPHA:139417
Alpha-Heavy Chain Disease	Malabsorption, Abnormal small intestine morphology, Abdominal pain, Growth delay	ORPHA:100025
Immunodeficiency 77	Gastroparesis	OMIM:619223
Eosinophilic Gastroenteritis	Vomiting, Diarrhea, Weight loss, Abnormality of the gastrointestinal tract, Malabsorption, Abdomi...	ORPHA:2070
Young-Onset Parkinson Disease	Spasticity, Diarrhea, Rigidity, Constipation, Nausea, Dystonia, Gastroparesis	ORPHA:2828
Prune Belly Syndrome	Congenital posterior urethral valve, Hydroureter, Anal atresia, Xerostomia, Aplasia of the abdomi...	OMIM:100100
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
Johanson-Blizzard Syndrome	Short stature, Malabsorption, Hypoplasia of penis, Anal atresia, Failure to thrive, Hypospadias, ...	ORPHA:2315
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Pyloric stenosis, Generalized hypotonia, Feeding difficulties...	OMIM:617219
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hypoperistalsis, Nausea and vomiting, Abnormality of the gastrointe...	ORPHA:2241
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Vomiting, Achal...	ORPHA:1018
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Williams-Beuren Region Duplication Syndrome	High palate, Short stature, Small for gestational age, Chronic constipation, Unilateral renal age...	OMIM:609757
Prader-Willi Syndrome	Nasogastric tube feeding in infancy, Vomiting, Poor suck, Short stature, Failure to thrive, Hypot...	ORPHA:739
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Short stature, Intestinal malrotation, Growth delay, Neonatal hypotonia,...	ORPHA:457193
Diarrhea 12, With Microvillus Atrophy	Vomiting, Villous atrophy, Dependency on parenteral nutrition, Abdominal distention, Microvillus ...	OMIM:619445
Vascular Hyalinosis	Malabsorption, Protein-losing enteropathy, Hematochezia, Diarrhea	OMIM:277175
Occipital Horn Syndrome	Gastroesophageal reflux, Poor suck, Recurrent urinary tract infections, Bladder diverticulum, Abn...	ORPHA:198
Posterior Urethral Valve	Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention...	ORPHA:93110
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co...	OMIM:613496
Igg4-Related Aortitis	Weight loss, Abdominal pain, Elevated circulating C-reactive protein concentration, Intestinal ob...	ORPHA:449400
Congenital Tufting Enteropathy	Elevated fecal osmolality, Vomiting, Weight loss, Abnormal large intestinal mucosa morphology, Vi...	ORPHA:92050
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Gastroesophageal reflux, Appendicular spasticity, Unilateral renal agenesis, Anteriorly placed an...	OMIM:618494
Cardiospondylocarpofacial Syndrome	Vesicoureteral reflux, Gastroesophageal reflux, Short stature, Failure to thrive, Congenital diap...	OMIM:157800
Congenital Disorder Of Glycosylation, Type Ih	Vomiting, Diarrhea, Camptodactyly, Abdominal distention, Failure to thrive, Hypotonia, Decreased ...	OMIM:608104
Mpi-Cdg	Vomiting, Diarrhea, Failure to thrive, Gastrointestinal hemorrhage, Decreased liver function, Pro...	ORPHA:79319
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology, Abnormal renal phys...	ORPHA:2290
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Recurrent urinary tract infections, Abdominal distention, Megacystis, Nephrolith...	OMIM:619365
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del...	ORPHA:98754
Alg6-Cdg	Macroglossia, Failure to thrive, Hypotonia, Protein-losing enteropathy, Feeding difficulties, Hyp...	ORPHA:79320
Bladder Exstrophy	Vesicoureteral reflux, Abnormality of the anus, Recurrent urinary tract infections, Hypoplasia of...	ORPHA:93930
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del...	ORPHA:177904
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Microcolon, Abdominal distention, Megacystis, Neonatal death, Fetal megacystis, Hydr...	OMIM:619362
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del...	ORPHA:177901
Epidermolysis Bullosa Simplex With Pyloric Atresia	Congenital pyloric atresia, Renal duplication, Vomiting, Flexion contracture, Aplasia of the blad...	ORPHA:158684
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hydroureter, An...	ORPHA:2973
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis...	ORPHA:2547
Ritscher-Schinzel Syndrome 1	Generalized hypotonia, Anal atresia, Hypospadias, Hypotonia, Cleft palate, Intrauterine growth re...	OMIM:220210
Prader-Willi-Like Syndrome	Short stature, Small for gestational age, Feeding difficulties in infancy, Failure to thrive, Del...	ORPHA:398073
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hepatic failure, Hydroureter, Microcolon, Intestinal malrotation, Megacystis, Hydronephrosis	OMIM:619431
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Bloody diarrhea, Enterocolitis, Jejunal atresia, Intestinal atresia, Intestinal malrotation, Colo...	OMIM:243150
3C Syndrome	Gastroesophageal reflux, Short stature, Ectopic anus, Feeding difficulties in infancy, Hypoplasia...	ORPHA:7
Hypercholanemia, Familial 1	Failure to thrive, Fat malabsorption, Steatorrhea	OMIM:607748
Martinez-Frias Syndrome	Jejunal atresia, Intestinal malrotation, Tracheoesophageal fistula, Hypospadias, Intestinal hypop...	OMIM:601346
Junctional Epidermolysis Bullosa With Pyloric Atresia	Congenital pyloric atresia, Renal duplication, Nausea and vomiting, Renal dysplasia, Hematuria, U...	ORPHA:79403
Nk-Cell Enteropathy	Abnormal gastric mucosa morphology, Gastroesophageal reflux, Colonic diverticula, Diarrhea, Duode...	ORPHA:263665
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Vesicoureteral reflux, Gastroesophageal reflux, Spasticity, High palate, Renal dysplasia, Bladder...	OMIM:614080
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	High palate, Limb hypertonia, Infantile muscular hypotonia, Generalized hypotonia, Failure to thr...	ORPHA:488613
Orofaciodigital Syndrome Xv	Lobulated tongue, Hydronephrosis	OMIM:617127
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Vomiting, Diarrhea, Malabsorption, Gastrointestinal carcinoma, Abdominal pain, Cachexia, Glossiti...	OMIM:175500
Fanconi Anemia, Complementation Group W	Renal hypoplasia, Duodenal atresia, Growth delay, Intrauterine growth retardation	OMIM:617784
Cat Eye Syndrome	Vesicoureteral reflux, Rectal atresia, Short stature, Volvulus, Renal agenesis, Anal atresia, Int...	OMIM:115470
Autoinflammation With Infantile Enterocolitis	Enterocolitis, Short stature, Villous atrophy, Feeding difficulties in infancy, Episodic vomiting...	OMIM:616050
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Gastroesophageal reflux, Spasticity, Gastrostomy tube feeding in infancy, Infantile muscular hypo...	ORPHA:500150
Bardet-Biedl Syndrome 12	Hypogonadism, Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Vaginal atresia, Obesity, Hy...	OMIM:615989
Zellweger Syndrome	Hepatic failure, Multicystic kidney dysplasia, High palate, Short stature, Malabsorption, Feeding...	ORPHA:912
Beta-Mercaptolactate Cysteine Disulfiduria	High palate, Short stature, Abnormality of the ureter, Hypotonia, Obesity	ORPHA:1035
Netherton Syndrome	Aminoaciduria, Short stature, Malabsorption, Ectopic kidney, Hydronephrosis	ORPHA:634
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Gastroesophageal reflux, Flexion contracture, Short stature, Nausea and vomiting, Recurrent urina...	ORPHA:847
Mitchell-Riley Syndrome	Jejunal atresia, Diarrhea, Malabsorption, Acholic stools, Intestinal malrotation, Anteriorly plac...	OMIM:615710
Pancreatic Lipase Deficiency	Fat malabsorption, Steatorrhea	OMIM:614338
Refractory Celiac Disease	Jejunitis, Weight loss, Villous atrophy, Malabsorption, Abdominal pain, Malnutrition, Hypoprotein...	ORPHA:398063
Ileal Neuroendocrine Tumor	Intestinal fistula, Episodic abdominal pain, Hepatic failure, Intermittent diarrhea, Weight loss,...	ORPHA:100078
Jejunal Neuroendocrine Tumor	Intestinal fistula, Episodic abdominal pain, Hepatic failure, Intermittent diarrhea, Weight loss,...	ORPHA:100077
Pancreatic Colipase Deficiency	Fat malabsorption, Steatorrhea, Growth delay, Chronic diarrhea, Exocrine pancreatic insufficiency	ORPHA:309108
Immunodeficiency 70	Celiac disease, Achalasia, Colitis	OMIM:618969
Serkal Syndrome	Hypoplasia of the bladder, Malrotation of small bowel, Renal agenesis, Congenital diaphragmatic h...	ORPHA:139466
Fryns Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Multicystic kidney dysplasia, High palate, Ectopi...	ORPHA:2059
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Vesicoureteral reflux, Short stature, Small for gestational age, Feeding difficulties in infancy,...	OMIM:301056
Feingold Syndrome Type 1	Vesicoureteral reflux, Jejunal atresia, Short stature, Renal dysplasia, Esophageal atresia, Abnor...	ORPHA:391641
Baller-Gerold Syndrome	Vesicoureteral reflux, High palate, Short stature, Malabsorption, Anal atresia, Anteriorly placed...	ORPHA:1225
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Decreased body weight, Short stature, Cleft palate, Arthrogryposis multipl...	OMIM:618265
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Hypotonia, Gastrointestinal dysmotility, Growth delay, Duodenal atresia, ...	OMIM:617798
Caudal Regression Syndrome	Vesicoureteral reflux, Decreased muscle mass, Renal agenesis, Anal atresia, Ectopic kidney, Abnor...	ORPHA:3027
Trigonocephaly 1	Meckel diverticulum, High, narrow palate, Long penis	OMIM:190440
Marden-Walker Syndrome	Camptodactyly of finger, Renal dysplasia, Bifid uvula, Aplasia/Hypoplasia involving the skeletal ...	ORPHA:2461
Inflammatory Skin And Bowel Disease, Neonatal, 1	Failure to thrive, Bloody diarrhea, Villous atrophy, Duodenitis	OMIM:614328
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Chronic constipation, Spastic tetraparesis, Failure to thrive, Protruding tongue, ...	OMIM:619179
Deafness-Vitiligo-Achalasia Syndrome	Skeletal muscle atrophy, Severe short stature, Achalasia	ORPHA:3239
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Esophageal atresia, Enlarged kidney, Anal atresia, Tracheoesophageal fistula, N...	OMIM:314390
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Hypoproteinemia, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Spasticity, Duplicated collecting system, Hypotonia, Growth delay, Esophagitis, ...	ORPHA:541423
Webb-Dattani Syndrome	Gastroesophageal reflux, Vesicoureteral reflux, Spasticity, Neurogenic bladder, Hydronephrosis	OMIM:615926
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Poor suck, Meckel diverticulum, Dysphagia, Feeding difficulties, Nasogastric tube feeding, Infant...	ORPHA:163961
Peutz-Jeghers Syndrome	Bloody diarrhea, Intussusception, Gastrointestinal carcinoma, Abdominal pain, Multiple gastric po...	OMIM:175200
Congenital Disorder Of Glycosylation, Type Id	Vomiting, High palate, Diarrhea, Villous atrophy, Flexion contracture, Joint contracture of the h...	OMIM:601110
Congenital Contractural Arachnodactyly	Camptodactyly of finger, Flexion contracture, High palate, Intestinal malrotation, Tracheoesophag...	ORPHA:115
Esophageal Atresia	Feeding difficulties in infancy, Hypertonia, Dysphagia, Abnormality of the urinary system, Cleft ...	ORPHA:1199
Joubert Syndrome 37	High palate, Short stature, Generalized hypotonia, Obesity, Micropenis, Hydronephrosis	OMIM:619185
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Feeding difficulties, Hypertonia, Hydronephrosis	OMIM:618240
Autosomal Recessive Spastic Paraplegia Type 20	Spasticity, Short stature, Spastic gait, Dysuria, Spastic dysarthria, Generalized hypotonia, Spas...	ORPHA:101000
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Duodenal ulcer, Malabsorption, Cachexia, Steatorrhea, Chronic diarrhea	ORPHA:3217
Kleefstra Syndrome	Vesicoureteral reflux, Gastroesophageal reflux, Short stature, Pyloric stenosis, Hypoplasia of pe...	ORPHA:261494
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, High palate, Generalized hypotonia, Abdominal distention, Hypoproteinemia, Hypot...	OMIM:235255
Penoscrotal Transposition	Shawl scrotum, Renal dysplasia, Penoscrotal transposition, Renal agenesis, Hypospadias, Abnormali...	ORPHA:2842
Koolen-De Vries Syndrome	Vesicoureteral reflux, Renal duplication, Narrow palate, Short stature, Feeding difficulties in i...	ORPHA:96169
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Elevated circulating creatine kinase concentration, Generalized limb muscle a...	OMIM:615351
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Generalized hypotonia, Camptodactyly, Hypotonia, Growth delay, Hyp...	OMIM:179613
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Fat malabsorption, Steatorrhea, Renal cyst, Failure to thrive, Dark urine, Postn...	ORPHA:79303
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, High palate, Generalized hypotonia, Abdominal distention, Hypoproteinemia, Prote...	ORPHA:1655
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Knee flexion contracture, Vomiting, Narrow palate, Diarrhea, High palate, Renal dysplasia, Enlarg...	OMIM:608836
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Hypospadias, Abnormality of the ureter, Hypoplasia of penis	ORPHA:1046
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Growth delay, Dysphagia, Hydronephrosis	OMIM:222300
Oculoskeletodental Syndrome	Short stature, Small for gestational age, Elbow flexion contracture, Renal agenesis, Macroglossia...	OMIM:618440
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Gastroesophageal reflux, Spasticity, High palate, Calcinosis, Hypotonia, Growth de...	OMIM:617913
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Generalized hypotonia, Gastrojejunal tube...	OMIM:619218
Cholestasis, Progressive Familial Intrahepatic, 2	Diarrhea, Short stature, Fat malabsorption, Hepatocellular carcinoma, Failure to thrive	OMIM:601847
Trichohepatoenteric Syndrome 2	Bloody diarrhea, Chronic diarrhea, Diarrhea, Villous atrophy, Small for gestational age, Failure ...	OMIM:614602
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Hydroureter, Fetal megacystis	OMIM:249210
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Grade II vesicoureteral reflux, Weight loss, Villous atrophy, Abdomina...	OMIM:619377
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Short stature, Neurogenic bladder, Generalized hypotonia, Elevated circu...	OMIM:608779
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Myopathy, Bilateral renal hypoplasia, Stillbirth, Cleft ...	OMIM:243605
Plasminogen Deficiency, Type I	Duodenal ulcer, Generalized hypotonia, Nephritis, Decreased level of plasminogen, Nephrolithiasis	OMIM:217090
Metachromatic Leukodystrophy	Urinary incontinence, Gastrostomy tube feeding in infancy, Progressive spasticity, Abnormal duode...	ORPHA:512
Matthew-Wood Syndrome	Vesicoureteral reflux, Duodenal stenosis, Failure to thrive, Congenital diaphragmatic hernia, Hyp...	ORPHA:2470
Proprotein Convertase 1/3 Deficiency	Malabsorption, Obesity, Diarrhea, Villous atrophy	OMIM:600955
Dystonia, Juvenile-Onset	Achalasia, Small for gestational age, Pseudobulbar paralysis, Oculogyric crisis, Leg dystonia, Dy...	OMIM:607371
Chylomicron Retention Disease	Vomiting, Diarrhea, Fat malabsorption, Steatorrhea, Abdominal distention, EMG: myopathic abnormal...	ORPHA:71
Suleiman-El-Hattab Syndrome	High palate, Generalized hypotonia, Failure to thrive, Feeding difficulties, Hydronephrosis	OMIM:618950
Tetraploidy	Renal hypoplasia/aplasia, Cleft palate, Intrauterine growth retardation, Hydronephrosis	ORPHA:3305
Mckusick-Kaufman Syndrome	Urogenital sinus anomaly, Multicystic kidney dysplasia, High palate, Short stature, Ectopic anus,...	ORPHA:2473
Scleroderma	Gastroesophageal reflux, Gastrointestinal telangiectasia, Flexion contracture, Abnormal large int...	ORPHA:801
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Vacterl/Vater Association	Anorectal anomaly, Multicystic kidney dysplasia, Renal agenesis, Hypoplasia of penis, Anal atresi...	ORPHA:887
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Anal atresia, Abdominal distention, Intestinal malrotation, Secretory diarrhea, Rectovaginal fist...	OMIM:270420
Trisomy 17P	Flexion contracture, High palate, Short stature, Polycystic kidney dysplasia, Hypoplasia of penis...	ORPHA:261290
Juvenile Polyposis Of Infancy	Rectal prolapse, Diarrhea, Short stature, High, narrow palate, Intussusception, Abdominal pain, C...	ORPHA:79076
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Short stature, Esophageal atresia, Renal agenesis, Submucous cleft hard palate, Unilateral renal ...	OMIM:619227
Zaki Syndrome	High palate, Short stature, Poor appetite, Spastic gait, Renal agenesis, Congenital diaphragmatic...	OMIM:619648
9Q21.13 Microdeletion Syndrome	Gastrointestinal dysmotility, Abnormal tongue morphology, Postnatal growth retardation, Hydroneph...	ORPHA:531151
Hereditary Xanthinuria	Uric acid nephrolithiasis, Crystalluria, Poor appetite, Acute kidney injury, Recurrent urinary tr...	ORPHA:3467
Maternal Uniparental Disomy Of Chromosome 4	Decreased body weight, Diarrhea, Short stature, Neurogenic bladder, Spastic gait, Fat malabsorpti...	ORPHA:96180
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Achalasia, Short stature, Celiac disease, Delayed puberty, Abnormal intestine morphology, Exocrin...	OMIM:615952
Basel-Vanagaite-Smirin-Yosef Syndrome	Gastroesophageal reflux, Spasticity, High palate, Hypospadias, Hypotonia, Constipation, Furrowed ...	OMIM:616449
Congenital Short Bowel Syndrome	Intestinal malrotation, Displacement of the urethral meatus, Short stature, Intestinal hypoplasia	ORPHA:2301
Tarp Syndrome	High palate, Glossoptosis, Tongue nodules, Generalized hypotonia, Failure to thrive, Hypotonia, H...	OMIM:311900
Czeizel-Losonci Syndrome	Ureteral agenesis, Congenital megaureter, High palate, Tracheoesophageal fistula, Posterolateral ...	ORPHA:2437
Xanthinuria, Type I	Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis	OMIM:278300
Trisomy 13	Abnormality of the ureter, Hypotonia, Multiple renal cysts, Intrauterine growth retardation, Clef...	ORPHA:3378
6P22 Microdeletion Syndrome	Hypotonia, Hydronephrosis	ORPHA:251046
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Abnormality of muscle size, Narrow palate, Short stature, Facial hypotonia, Axial hyp...	ORPHA:364028
Kury-Isidor Syndrome	High palate, Hypotonia, Growth delay, Feeding difficulties, Hydronephrosis	OMIM:619762
Cog8-Cdg	Failure to thrive, Protein-losing enteropathy, Skeletal muscle atrophy, Infantile muscular hypotonia	ORPHA:95428
46,Xy Sex Reversal 4	Hydronephrosis, Sex reversal, Renal dysplasia, Hypoplastic labia majora, Agonadism, Ureteropelvic...	OMIM:154230
Achalasia-Microcephaly Syndrome	Achalasia, Growth delay	ORPHA:929
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Short stature, Facial palsy, Aplasia of the pector...	ORPHA:1358
Triple A Syndrome	Achalasia, Short stature, Abnormality of the calf musculature, Abnormality of the hypothenar emin...	ORPHA:869
Congenital Alveolar Capillary Dysplasia	Volvulus, Aganglionic megacolon, Anal atresia, Duodenal stenosis, Tracheoesophageal fistula, Inte...	ORPHA:210122
Bor Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Facial palsy, Uret...	ORPHA:107
Caudal Duplication Anomaly	Uterus didelphys, Ureteral duplication	OMIM:607864
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Feeding difficulties, Hypotonia, Hydronephrosis	OMIM:619797
Mosaic Variegated Aneuploidy Syndrome 1	Nephroblastoma, Multicystic kidney dysplasia, Short stature, Small for gestational age, Feeding d...	OMIM:257300
Thakker-Donnai Syndrome	Anal atresia, Tracheoesophageal fistula, Congenital diaphragmatic hernia, Hypotonia, Rectovaginal...	ORPHA:1780
Trisomy 1Q	Camptodactyly of finger, Multicystic kidney dysplasia, Congenital megaureter, Anal atresia, Conge...	ORPHA:261344
Caudal Duplication	Renal hypoplasia/aplasia, Ureteral duplication, Intestinal duplication, Abnormal penis morphology	ORPHA:1756
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Gastroesophageal reflux, Spasticity, Poor suck, Infantile muscular hypotonia, Renal agenesis, Mac...	OMIM:301040
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, High palate, Malrotation of small bowel, Arthrogryposis multiplex congenit...	ORPHA:2953
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, High palate, Rhizomelia, Short stature, Glossoptosis, Feeding difficul...	OMIM:611209
Diabetic Embryopathy	Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall musculature, Renal hypoplasia/aplasia, C...	ORPHA:1926
Chromosome 2P16.1-P15 Deletion Syndrome	Spasticity, High palate, Short stature, Joint contracture of the hand, Camptodactyly, Hypotonia, ...	OMIM:612513
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Chronic constipation, Generalized hypotonia, Hydronephrosis	OMIM:618060
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, High palate, Anal atresia, Intestinal malrotation, Horseshoe kidney, Cleft...	ORPHA:93260
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft palate, High palate, Hydronephrosis	OMIM:602418
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Vesicoureteral reflux, Narrow palate, Joint contracture of the hand, Mild postnatal growth retard...	OMIM:235510
Fanconi Anemia, Complementation Group B	Esophageal atresia, Renal agenesis, Tracheoesophageal fistula, Growth delay, Intrauterine growth ...	OMIM:300514
Silver-Russell Syndrome 1	Nephroblastoma, Small for gestational age, Congenital posterior urethral valve, Hepatocellular ca...	OMIM:180860
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Intestinal atresia	ORPHA:3405
Distal Tetrasomy 15Q	Nephroblastoma, Flexion contracture, High palate, Abnormality of the kidney, Polycystic kidney dy...	ORPHA:314588
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Growth delay, Cryptorchidism, Small scrotum, Intrauterine growth retardation...	ORPHA:2083
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Fanconi Anemia, Complementation Group F	Vesicoureteral reflux, Short stature, Microphallus, Failure to thrive, Pelvic kidney, Renal hypop...	OMIM:603467
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Achalasia	ORPHA:2400
Joubert Syndrome 35	Multicystic kidney dysplasia, Recurrent urinary tract infections, Generalized hypotonia, Renal fi...	OMIM:618161
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormality of the bladder, Multicystic kidney dysplasia, Aplasia/Hypoplasia ...	ORPHA:79404
Duodenal Neuroendocrine Tumor	Intestinal fistula, Episodic abdominal pain, Hepatic failure, Intermittent diarrhea, Episodic vom...	ORPHA:100076
Scleromyxedema	Gastroesophageal reflux, Hypoperistalsis, Abnormal skeletal muscle morphology, Abnormality of the...	ORPHA:167635
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Diarrhea, Fat malabsorption, Acholic stools, Steatorrhea, Failure to thrive	OMIM:607765
Smith-Magenis Syndrome	Gastroesophageal reflux, Short stature, Renal hypoplasia/aplasia, Feeding difficulties in infancy...	ORPHA:819
Distal Trisomy 6P	Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati...	ORPHA:1745
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Gastroesophageal reflux, Vomiting, Birth length less than 3rd percentile, Small for gestational a...	ORPHA:464311
Cholestasis, Progressive Familial Intrahepatic, 1	Failure to thrive, Fat malabsorption, Diarrhea, Short stature	OMIM:211600
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Nasogastric tube feeding in infancy, Gastroesophageal reflux, High palate,...	ORPHA:453499
Atresia Of Urethra	Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf...	ORPHA:105
22Q11.2 Duplication Syndrome	Hypotonia, Urethral stenosis, Growth delay, Cleft palate, Displacement of the urethral meatus, Hy...	ORPHA:1727
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Ileal ulcer, Colitis	OMIM:616744
Urban-Rogers-Meyer Syndrome	Short stature, Hypogonadism, Hypoplasia of penis, Abnormality of the ureter, Cryptorchidism, Obesity	ORPHA:3409
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney, Short stature, Cryptorchidism	ORPHA:1920
Bare Lymphocyte Syndrome, Type Ii	Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Failure ...	OMIM:209920
Congenital Disorder Of Glycosylation, Type It	Vomiting, Rhabdomyolysis, Short stature, Bifid uvula, Elevated circulating creatine kinase concen...	OMIM:614921
Micro Syndrome	Spasticity, High palate, Short stature, Hypoplasia of penis, Delayed puberty, Hypotonia, Abnormal...	ORPHA:2510
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Epispadias, Abnormality of the bladder, Failure to thrive, Abnormality of ...	ORPHA:3339
Deafness, Congenital, With Vitiligo And Achalasia	Skeletal muscle atrophy, Achalasia, Short stature	OMIM:221350
Hardikar Syndrome	Hypoplasia of the bladder, Cleft soft palate, Celiac disease, Decreased liver function, Hematemes...	OMIM:301068
Genitopatellar Syndrome	Knee flexion contracture, Gastroesophageal reflux, Multicystic kidney dysplasia, Hip contracture,...	ORPHA:85201
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Unilateral renal agenesis, V...	ORPHA:2237
Cutis Laxa, Autosomal Recessive, Type Ic	Gastroesophageal reflux, Morgagni diaphragmatic hernia, Pyloric stenosis, Multiple bladder divert...	OMIM:613177
Khan-Khan-Katsanis Syndrome	Vesicoureteral reflux, Hydronephrosis, Short stature, Renal cyst, Failure to thrive, Hypotonia, H...	OMIM:618460
Dyrk1A-Related Intellectual Disability Syndrome	Gastroesophageal reflux, Vomiting, Multiple joint contractures, Short stature, Small for gestatio...	ORPHA:464306
Koolen-De Vries Syndrome	Vesicoureteral reflux, Narrow palate, High palate, Short stature, Recurrent urinary tract infecti...	OMIM:610443
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Crossed fused renal ectopia, Renal malrotation, Aganglionic megacolon, Fac...	OMIM:607323
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Vesicoureteral reflux, Hypoplasia of the bladder, Crossed fused renal ectopia, Short stature, Sma...	OMIM:300707
2P15P16.1 Microdeletion Syndrome	Camptodactyly of finger, Multicystic kidney dysplasia, High palate, Facial palsy, Generalized hyp...	ORPHA:261349
Microform Holoprosencephaly	Short stature, Renal agenesis, Hypoplasia of penis, EMG: myopathic abnormalities, Cleft palate, D...	ORPHA:280200
White-Kernohan Syndrome	Gastroesophageal reflux, Hydroureter, Rectovaginal fistula, Anteriorly placed anus, Hypotonia, Ho...	OMIM:619426
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Failure to thrive, Glomerulonephritis, Chronic diarrhea, Ileus	OMIM:304790
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Gastroesophageal reflux, Congenital megaureter, High palate, Rectovestibular fistula, Flexion con...	ORPHA:280633
Igg4-Related Retroperitoneal Fibrosis	Hydronephrosis, Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epit...	ORPHA:49041
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis	OMIM:619217
Hyperphosphatasia-Intellectual Disability Syndrome	Gastrostomy tube feeding in infancy, High palate, Infantile muscular hypotonia, Aganglionic megac...	ORPHA:247262
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Feeding difficulties, Protein-losing enteropathy	OMIM:618154
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Colorectal polyposis, Adenocarcinoma of the colon, L...	ORPHA:220460
Zollinger-Ellison Syndrome	Episodic abdominal pain, Peptic ulcer, Diarrhea, Weight loss, Duodenal ulcer, Zollinger-Ellison s...	ORPHA:913
Oeis Complex	Duplicated colon, Vesicovaginal fistula, Hydroureter, Renal agenesis, Anal atresia, Epispadias, I...	OMIM:258040
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Flexion contracture, Small for gestational age, Hypospadias, Intrauterine growth retardation, Cle...	OMIM:616897
Adenine Phosphoribosyltransferase Deficiency	Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Renal insufficiency, Nephro...	OMIM:614723
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Failure to thrive, Vesicoureteral reflux, Hydronephrosis	OMIM:613735
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High palate, Generalized hypotonia, Macroglossia, Failure to thrive, Hypospadias, ...	OMIM:214100
Trisomy 20P	Camptodactyly of finger, Ectopic anus, Abnormality of the kidney, Abnormality of the ureter, Hypo...	ORPHA:261318
Congenital Myopathy 17	Distal arthrogryposis, High palate, Diaphragmatic eventration, Generalized hypotonia, Myopathy, U...	OMIM:618975
Penile Agenesis	Anorectal anomaly, Absent penis, Bilateral renal agenesis, Urethral fistula, Hydroureter, Cystic ...	ORPHA:49
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Wrist flexion contracture, Flexion contracture, Diastasis recti, Camptodactyly, Macroglossia, Fle...	ORPHA:254528
Castleman Disease	Renal insufficiency, Weight loss, Nausea and vomiting, Abnormality of the gastrointestinal tract,...	ORPHA:160
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126840
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Vesicoureteral reflux, High palate, Anteriorly placed anus, Hypotonia, Pelvic kidney, Axial hypot...	OMIM:618653
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Short stature, Renal dysplasia, Bifid uvula, Generalized hypotonia, Anal atresia, Cleft palate, F...	OMIM:300968
Diarrhea 10, Protein-Losing Enteropathy Type	Renal dysplasia, Polyuria, Secretory diarrhea, Protein-losing enteropathy, Feeding difficulties, ...	OMIM:618183
Duodenal Atresia	Duodenal atresia	OMIM:223400
Mesomelia-Synostoses Syndrome	Aplasia/Hypoplasia of the uvula, High, narrow palate, Short stature, Hydronephrosis	ORPHA:2496
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Hydronephrosis	OMIM:620141
Pallister-Hall Syndrome	Short stature, Renal dysplasia, Hydroureter, Anal atresia, Renal cyst, Ectopic kidney, Anteriorly...	OMIM:146510
Intellectual Disability, Buenos-Aires Type	High palate, Spastic gait, Short stature, Hydronephrosis	ORPHA:3079
Mednik Syndrome	Jejunal atresia, Diarrhea, Volvulus, Microcolon, Hypotonia, Growth delay, Neonatal death	OMIM:609313
Dextrocardia	Intestinal malrotation, Abnormality of the ureter, Abnormal renal morphology, Meckel diverticulum	ORPHA:1666
Disorder Of Bile Acid Synthesis	Fat malabsorption	ORPHA:79168
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Weight loss, Abnormality of small intestinal vi...	ORPHA:90362
Fryns Syndrome	Joint contracture of the hand, Esophageal atresia, Aganglionic megacolon, Renal agenesis, Camptod...	OMIM:229850
Miller-Dieker Lissencephaly Syndrome	Progressive spastic paraplegia, Joint contracture of the hand, Camptodactyly, Failure to thrive, ...	OMIM:247200
Trichothiodystrophy 3, Photosensitive	Short stature, Pyloric stenosis, Failure to thrive, Meckel diverticulum, Hypertonia, Feeding diff...	OMIM:616395
Tarp Syndrome	Glossoptosis, Tongue nodules, Abnormal duodenum morphology, Generalized hypotonia, Failure to thr...	ORPHA:2886
Posterior Column Ataxia With Retinitis Pigmentosa	Urinary incontinence, Achalasia, Joint contracture of the hand, Recurrent urinary tract infection...	OMIM:609033
Mosaic Trisomy 9	Camptodactyly of finger, High palate, Renal dysplasia, Hypoplasia of penis, Intestinal malrotatio...	ORPHA:99776
Immunodeficiency 85 And Autoimmunity	Tube feeding, Vomiting, Villous atrophy, Growth delay, Chronic diarrhea, Failure to thrive in inf...	OMIM:619510
Developmental Malformations-Deafness-Dystonia Syndrome	Achalasia, Short stature, Macroglossia, Dysphagia, Generalized dystonia	ORPHA:79107
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia, Short stature	ORPHA:3004
Granulomatosis With Polyangiitis	Glomerulopathy, Weight loss, Nausea and vomiting, Abdominal pain, Hematuria, Ureteral stenosis, I...	ORPHA:900
Trisomy 18	Camptodactyly of finger, Narrow palate, Short stature, Esophageal atresia, Abnormality of the upp...	ORPHA:3380
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Dysphagia	OMIM:615750
Focal Dermal Hypoplasia	Camptodactyly of finger, Gastroesophageal reflux, Multicystic kidney dysplasia, Diastasis recti, ...	ORPHA:2092
Alg9-Cdg	Gastroesophageal reflux, Vomiting, Hypoplasia of the bladder, Rhizomelia, Diarrhea, Villous atrop...	ORPHA:79328
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Gastroesophageal reflux, High palate, Short stature, Generalized hypotonia...	OMIM:616975
Distal Monosomy 12Q	Vesicoureteral reflux, Congenital hypertrophy of left ventricle, Short stature, Esophageal atresi...	ORPHA:96149
Au-Kline Syndrome	Vesicoureteral reflux, Hydronephrosis, Gastroesophageal reflux, Bifid tongue, High palate, Bifid ...	OMIM:616580
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Growth delay, Rectal pol...	ORPHA:329971
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Camptodactyly of finger, Duodenal stenosis	ORPHA:1759
Cardiofaciocutaneous Syndrome 1	Gastroesophageal reflux, Vomiting, Gastrostomy tube feeding in infancy, High palate, Short statur...	OMIM:115150
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Congenital Tracheal Stenosis	Morphological abnormality of the gastrointestinal tract, Abnormality of the kidney, Abnormal stom...	ORPHA:141127
Mirage Syndrome	Gastroesophageal reflux, Esophageal stricture, Decreased body weight, Achalasia, Short stature, M...	OMIM:617053
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126850
Smith-Lemli-Opitz Syndrome	Bifid uvula, Hypertonia, Cleft palate, Feeding difficulties, Abdominal distention, Microglossia, ...	OMIM:270400
Immunodeficiency 31C	Diarrhea, Short stature, Weight loss, Intussusception, Villous atrophy, Delayed puberty, Skeletal...	OMIM:614162
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Short stature, Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the ureter, Gonadal d...	ORPHA:1770
Cloacal Exstrophy	Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydroureter, Hypoplasia of penis, Anal atresia, ...	ORPHA:93929
Nijmegen Breakage Syndrome	Diarrhea, Short stature, Recurrent urinary tract infections, Rhabdomyosarcoma, Anal atresia, Clef...	OMIM:251260
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Aganglionic megacolon, Anal atre...	OMIM:236700
Bile Acid Synthesis Defect, Congenital, 4	Fat malabsorption, Failure to thrive, Hepatic failure, Hematochezia	OMIM:214950
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Diastasis recti, Neonatal death, Esophageal atresia, Hydrou...	OMIM:265380
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Achalasia, Short stature	ORPHA:436174
Dubowitz Syndrome	High palate, Short stature, Malabsorption, Submucous cleft hard palate, Hypospadias, Chronic diar...	ORPHA:235
Mosaic Variegated Aneuploidy Syndrome	Nephroblastoma, Stomach cancer, Multicystic kidney dysplasia, Short stature, Muscular dystrophy, ...	ORPHA:1052
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, High palate, Short stature, Renal agenesis, Intrauterine growth ret...	ORPHA:1297
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Abnormality of the ureter, Short stature	ORPHA:2522
Gabriele-De Vries Syndrome	Distal arthrogryposis, High palate, Hypotonia, Ureteropelvic junction obstruction, Facial hypoton...	OMIM:617557
Familial Adenomatous Polyposis 4	Renal cyst, Gastric adenocarcinoma, Adenomatous colonic polyposis, Duodenal polyposis	OMIM:617100
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Camptodactyly of finger, Knee flexion contracture, Spasticity, Multiple joint contractures, Micro...	ORPHA:468631
Jacobsen Syndrome	Multicystic kidney dysplasia, Abnormality of the anus, Short stature, Ectopic anus, Feeding diffi...	ORPHA:2308
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Vomiting, Villous atrophy, Small for gestational age, Malabsorption, Steatorrhea...	OMIM:557000
Trisomy 8P	Multiple joint contractures, Malrotation of small bowel, Bifid uvula, Generalized hypotonia, Cons...	ORPHA:264450
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Vomiting, Flexion contracture, Diarrhea, Villous atrophy, Nephrotic syndrom...	OMIM:212065
American Trypanosomiasis	Achalasia, Diarrhea, Aganglionic megacolon, Abdominal pain, Abnormal large intestine physiology	ORPHA:3386
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Distal arthrogryposis, Diastasis recti, High palate, Nephrotic syndrome, Abnormal duodenum morpho...	OMIM:601776
Primary Hyperoxaluria Type 2	Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ...	ORPHA:93599
Nephrogenic Diabetes Insipidus	Hyposthenuria, Enuresis nocturna, Short stature, Nausea and vomiting, Hydroureter, Failure to thr...	ORPHA:223
Opitz Gbbb Syndrome	Vesicoureteral reflux, High palate, Short stature, Ectopic anus, Feeding difficulties in infancy,...	ORPHA:2745
8P Inverted Duplication/Deletion Syndrome	Progressive spastic paraplegia, Contractures of the large joints, Spastic tetraplegia, Infantile ...	ORPHA:96092
Noonan Syndrome 4	Short stature, Large for gestational age, Cryptorchidism, Ureteral duplication, Hydronephrosis	OMIM:610733
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Short stature, Small for gestational age, Hypotonia, Growth delay, Severe intrauterin...	OMIM:614114
Intellectual Developmental Disorder, Autosomal Dominant 42	High palate, Limb hypertonia, Neurogenic bladder, Lower limb muscle weakness, Limb dystonia, Fail...	OMIM:616973
Scedosporiosis	Abnormal renal morphology, Abnormal jejunum morphology	ORPHA:449280
Kabuki Syndrome	Crossed fused renal ectopia, High palate, Short stature, Renal hypoplasia/aplasia, Hypoplasia of ...	ORPHA:2322
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, High palate, Short stature, Severe postnatal growth retardation, Hydronephrosis	ORPHA:35173
15Q Overgrowth Syndrome	Ureterovesical stenosis, Nephroblastoma, High palate, High, narrow palate, Bifid uvula, Contractu...	ORPHA:314585
Hypouricemia, Renal, 1	Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena...	ORPHA:411709
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, High palate, Short stature, Ankyloglossia, Failure to thrive, Hypotonia, I...	ORPHA:250989
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Generalized hypotonia, Camptodactyly, Large for gestational age, C...	OMIM:280000
Chromosome 17Q12 Deletion Syndrome	Unicornuate uterus, Hypoplasia of the bladder, Multicystic kidney dysplasia, Short stature, Recur...	OMIM:614527
Tetrasomy 18P	Achalasia	ORPHA:3307
Carpenter Syndrome 1	High palate, Short stature, Joint contracture of the hand, Hydroureter, Camptodactyly, Obesity, H...	OMIM:201000
Feingold Syndrome	Duodenal atresia, Short stature, Esophageal atresia	ORPHA:1305
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Hypospadias, Hypotonia, Contracture of the proximal interphalangeal joint of the 3rd ...	ORPHA:464738
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Netherton Syndrome	Failure to thrive, Abnormal intestine morphology, Intestinal atresia, Villous atrophy	OMIM:256500
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Gastroesophageal reflux, Achalasia, Gastrostomy tube feeding in infancy, In...	OMIM:619482
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Short stature, Microglossia, Neona...	ORPHA:2839
Occipital Horn Syndrome	High palate, Decreased circulating ceruloplasmin concentration, Bladder diverticulum, Growth dela...	OMIM:304150
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Achalasia, Dysphagia	ORPHA:289483
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Intestinal perforation, Bloody diarrhea, Anuria, Vomiting, Diarrhea, Rectal prolapse, Acute kidne...	ORPHA:90038
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis, Abdominal distention	ORPHA:1198
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Anteriorly placed anus, Horseshoe kidney, Bla...	OMIM:600057
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Renal interstitial immunoglobulin deposits, Sialadenitis, Decreased ...	ORPHA:449395
Johanson-Blizzard Syndrome	Hepatic failure, Colonic diverticula, Short stature, Small for gestational age, Malabsorption, Ge...	OMIM:243800
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Hydronephrosis	OMIM:607598
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Vesicoureteral reflux, Renal dysplasia, Hydroureter, Absence of Stensen duct, Renal agenesis, Bla...	OMIM:604292
Multisystemic Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypoperistalsis	OMIM:613834
Okamoto Syndrome	Urinary incontinence, Gastroesophageal reflux, Exaggerated median tongue furrow, Infantile muscul...	ORPHA:2729
Kabuki Syndrome 1	Crossed fused renal ectopia, High palate, Short stature, Malabsorption, Feeding difficulties in i...	OMIM:147920
Diets-Jongmans Syndrome	Short stature, Feeding difficulties in infancy, Generalized hypotonia, Congenital diaphragmatic h...	OMIM:618846
Frontometaphyseal Dysplasia 1	Camptodactyly of finger, Wrist flexion contracture, Knee flexion contracture, High palate, Hydrou...	OMIM:305620
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, High palate, Short stature, Cleft palate, Arthrog...	ORPHA:96061
Microphthalmia, Lenz Type	Short stature, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Cryptorchidism, Hydronephrosis	ORPHA:568
Gabriele-De Vries Syndrome	Distal arthrogryposis, Gastrostomy tube feeding in infancy, High palate, Distal lower limb amyotr...	ORPHA:506358
Microphthalmia, Syndromic 9	Hydronephrosis, Short stature, Bicornuate uterus, Renal malrotation, Pelvic kidney, Horseshoe kid...	OMIM:601186
Isolated Biliary Atresia	Dark yellow urine, Small for gestational age, Fat malabsorption, Acholic stools, Failure to thriv...	ORPHA:30391
Aredyld Syndrome	Abnormality of the ureter, Cachexia, Intrauterine growth retardation, Short stature	ORPHA:1133
Vater/Vacterl Association	Vesicoureteral reflux, Renal dysplasia, Esophageal atresia, Renal agenesis, Patent urachus, Anal ...	OMIM:192350
Smith-Lemli-Opitz Syndrome	Bifid tongue, Feeding difficulties in infancy, Hypertonia, Cleft palate, Multicystic kidney dyspl...	ORPHA:818
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Cardiofaciocutaneous Syndrome	High palate, Short stature, Abnormality of the gastrointestinal tract, Functional abnormality of ...	ORPHA:1340
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl...	ORPHA:731
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Arboleda-Tham Syndrome	Gastroesophageal reflux, Upper limb amyotrophy, Recurrent urinary tract infections, Generalized h...	OMIM:616268
Exstrophy-Epispadias Complex	Vesicoureteral reflux, Urinary incontinence, Bladder exstrophy, Renal duplication, Absent penis, ...	ORPHA:322
1P36 Deletion Syndrome	Camptodactyly of finger, Gastroesophageal reflux, Abnormality of the anus, Short stature, Feeding...	ORPHA:1606
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Achalasia, Generalized hypotonia, Esophageal stenosis, Hypotonia, Dysphagia, Feeding ...	OMIM:615510
Familial Visceral Myopathy	Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of the abdominal wall musculat...	ORPHA:2604
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Short stature, Congenital diaphragmatic hernia, Abnormality of the urete...	ORPHA:2311
Developmental Delay With Or Without Dysmorphic Facies And Autism	Vesicoureteral reflux, Short stature, Microphallus, Renal cyst, Congenital diaphragmatic hernia, ...	OMIM:618454
Mosaic Trisomy 16	Nasogastric tube feeding in infancy, Gastrostomy tube feeding in infancy, Abnormality of the gast...	ORPHA:1708
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Diarrhea, Neoplasm of the gastrointestinal tract, Juvenile gastrointe...	ORPHA:2929
Teebi-Shaltout Syndrome	Short stature, Camptodactyly, Ureteral stenosis, Horseshoe kidney, Cleft palate, High, narrow pal...	OMIM:272950
Microcephaly 20, Primary, Autosomal Recessive	Ureteral agenesis, Short stature, Bilateral renal agenesis, Vaginal atresia, Renal hypoplasia, Hy...	OMIM:617914
Floating-Harbor Syndrome	Gastroesophageal reflux, Short stature, Small for gestational age, Congenital posterior urethral ...	ORPHA:2044
7Q11.23 Microduplication Syndrome	High palate, Short stature, Chronic constipation, Generalized hypotonia, Unilateral renal agenesi...	ORPHA:96121
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Anal atresia, Abdominal distention, Hydronephrosis	OMIM:271520
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Microcolon, Pyelonephritis, Abdominal distention, Ileal...	OMIM:619351
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Cockayne Syndrome Type 3	Gastroesophageal reflux, Flexion contracture, Urinary retention, Neurogenic bladder, Hydroureter,...	ORPHA:90324
Schinzel-Giedion Syndrome	Nephroblastoma, Spasticity, Gastrostomy tube feeding in infancy, High palate, Aganglionic megacol...	ORPHA:798
Pericardial And Diaphragmatic Defect	Morphological abnormality of the gastrointestinal tract, Intestinal malrotation, Congenital diaph...	ORPHA:2847
Raine Syndrome	High palate, Short stature, Hydroureter, Protruding tongue, Cleft palate, Neonatal death, Arthrog...	OMIM:259775
Genitopatellar Syndrome	Knee flexion contracture, Multicystic kidney dysplasia, Hip contracture, Malrotation of small bow...	OMIM:606170
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Enlarged kidney, Cystic renal dysplasia, Hypoplasia of the small intestine	OMIM:200995
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Vesicoureteral reflux, Renal dysplasia, Hydroureter, Absence of Stensen duct, Renal agenesis, Bla...	OMIM:129900
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Vesicoureteral reflux, Gastroesophageal reflux, Narrow palate, Short stature, Recurrent urinary t...	ORPHA:353281
Meier-Gorlin Syndrome 7	Vesicoureteral reflux, Decreased body weight, High palate, Short stature, Urethral stricture, Ana...	OMIM:617063
Monosomy 22Q13.3	Vesicoureteral reflux, Gastroesophageal reflux, Nausea and vomiting, Renal dysplasia, Neonatal hy...	ORPHA:48652
Townes-Brocks Syndrome 1	Vesicoureteral reflux, Gastroesophageal reflux, Multicystic kidney dysplasia, Urethral valve, Ren...	OMIM:107480
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Achalasia, Limb-girdle muscular dystrophy, Short stature, Generalized hypotonia, Elevated circula...	OMIM:615356
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, High palate, Hydronephrosis	OMIM:104350
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, High palate, Spastic gait, Abnormality of the kidney, Generalized hypotonia, ...	ORPHA:261584
Melnick-Needles Syndrome	Vesicoureteral reflux, Short stature, Hydronephrosis	ORPHA:2484
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Achalasia, Short stature, Cleft palate, Feeding difficulties	OMIM:600987
Apert Syndrome	Rhizomelic arm shortening, Narrow palate, Ectopic anus, Esophageal atresia, Pyloric stenosis, Bif...	OMIM:101200
Fabry Disease	Glomerulopathy, Achalasia, Short stature, Nephrotic syndrome, Nausea and vomiting, Abnormal renal...	ORPHA:324
Hypoplasminogenemia	Duodenal ulcer, Nephrolithiasis, Decreased level of plasminogen	ORPHA:722
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Shawl scrotum, Renal hypoplasia/aplasia, Ureterocele...	ORPHA:261265
Congenital Bile Acid Synthesis Defect Type 3	Fat malabsorption, Hepatic failure	ORPHA:79302
Autosomal Recessive Cutis Laxa Type 1	Vesicoureteral reflux, Recurrent urinary tract infections, Pyloric stenosis, Pyelonephritis, Uret...	ORPHA:90349
Liver Disease, Severe Congenital	Aminoaciduria, Diarrhea, Elevated circulating alpha-fetoprotein concentration, Feeding difficulti...	OMIM:619991
Otopalatodigital Syndrome Type 2	Camptodactyly of finger, Failure to thrive, Hypospadias, Cleft palate, Ureteral obstruction, Glos...	ORPHA:90652
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Obesity, Growth delay, Proportionate short stature, Hyd...	OMIM:619269
Diphallia	Duplicated colon, Renal duplication, Abnormality of the gastrointestinal tract, Renal malrotation...	ORPHA:227
Menke-Hennekam Syndrome 2	Chronic constipation, Duodenal ulcer	OMIM:618333
Neutropenia, Severe Congenital, 4, Autosomal Recessive	High palate, Perianal abscess, Recurrent urinary tract infections, Urachus fistula, Failure to th...	OMIM:612541
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Enterocolitis, Diarrhea, Short stature, Villous atrophy, Delayed puberty, Abnormal intestine morp...	ORPHA:391487
Orofaciodigital Syndrome Type 1	Lobulated tongue, Multicystic kidney dysplasia, High palate, Tongue nodules, Dystonia, Proteinuri...	ORPHA:2750
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Failure to thrive, Meckel diverticulum, Rhizomelia, Short stature	OMIM:602613
Syndromic Diarrhea	Bloody diarrhea, Dependency on intravenous nutrition, Short stature, Villous atrophy, Small for g...	ORPHA:84064
Charge Syndrome	Vesicoureteral reflux, Gastroesophageal reflux, Short stature, Facial palsy, Feeding difficulties...	ORPHA:138
Cousin Syndrome	Wrist flexion contracture, Rhizomelia, Joint contracture of the hand, Camptodactyly, Disproportio...	OMIM:260660
Coffin-Siris Syndrome 1	High palate, Duodenal ulcer, Short stature, Intussusception, Hydroureter, Feeding difficulties in...	OMIM:135900
Trichohepatoenteric Syndrome 1	Hepatic failure, Short stature, Villous atrophy, Small for gestational age, Bifid uvula, Galactos...	OMIM:222470
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Ureteral stenosis, Renal hypoplasia, Duodenal atresia, Intrauterine growt...	OMIM:270100
Alagille Syndrome	Nephrotic syndrome, Renal hypoplasia/aplasia, Failure to thrive, Delayed puberty, Abnormality of ...	ORPHA:52
Zygomycosis	Vomiting, Enterocolitis, Diarrhea, Colon perforation, Abdominal pain, Peritonitis, Ileitis, Nephr...	ORPHA:73263
Immunodeficiency 82 With Systemic Inflammation	Vomiting, Crohn's disease, Diarrhea, Weight loss, Villous atrophy, Duodenal ulcer, Abdominal pain...	OMIM:619381
Achalasia, Familial Esophageal	Achalasia, Xerostomia	OMIM:200400
Campomelic Dysplasia	Cleft palate, Short stature, Hydronephrosis	ORPHA:140
Frontometaphyseal Dysplasia	Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Elbow flexion ...	ORPHA:1826
Al-Gazali Syndrome	Failure to thrive, Hydronephrosis	OMIM:609465
Eec Syndrome	Vesicoureteral reflux, Urethral atresia, Short stature, Renal hypoplasia/aplasia, Hypospadias, Xe...	ORPHA:1896
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urinary incontinence, High palate, Short stature, Renal agenesis, Urethral stricture, Hypospadias...	OMIM:619522
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Macroglossia, Hepatoblastoma, Failure to thrive, Hypospadias, Ureteral stenosis, Opi...	OMIM:269150
15q26 overgrowth syndrome	Camptodactyly of finger, Vesicoureteral reflux, High palate, Abnormality of the kidney, Polycysti...	DECIPHER:81
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Failure to thrive, Severe short stature, Ureteropelvic j...	ORPHA:444072
Ventriculomegaly With Defects Of The Radius And Kidney	Ectopic kidney, Renal agenesis, Horseshoe kidney, Ureteral duplication	OMIM:602200
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Chronic diarrhea, Villous atrophy, Failure to thrive, Inflammation of the lar...	OMIM:614700
Chondrodysplasia Punctata 2, X-Linked Dominant	Failure to thrive, Rhizomelia, Postnatal growth retardation, Hydronephrosis	OMIM:302960
Takenouchi-Kosaki Syndrome	Generalized hypotonia, Camptodactyly, Unilateral renal agenesis, Hypospadias, Hydronephrosis	OMIM:616737
Multiple Endocrine Neoplasia Type 1	Gastroesophageal reflux, Peptic ulcer, Vomiting, Diarrhea, Weight loss, Duodenal ulcer, Abdominal...	ORPHA:652
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, In...	OMIM:208540
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Failure to thrive, Growth delay, Feeding dif...	ORPHA:2995
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia, Dysphagia	OMIM:300858
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Vesicoureteral reflux, Gastroesophageal reflux, Nasogastric tube feeding in infancy, High palate,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Vesicoureteral reflux, Gastroesophageal reflux, Nasogastric tube feeding in infancy, High palate,...	ORPHA:353277
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney, Cryptorchidism	OMIM:613001
Autosomal Dominant Cutis Laxa	Vomiting, Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis, Small bowel diverticul...	ORPHA:90348
Simpson-Golabi-Behmel Syndrome	Nephroblastoma, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Mu...	ORPHA:373
Ellis Van Creveld Syndrome	Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Epispadias, Failure to thrive, ...	ORPHA:289
3Mc Syndrome 1	Diastasis recti, Growth delay, Cleft palate, Postnatal growth retardation, Hydronephrosis	OMIM:257920
Iniencephaly	Rhizomelia, Renal agenesis, Anal atresia, Congenital diaphragmatic hernia, Duodenal atresia, Arth...	ORPHA:63259
Autosomal Recessive Robinow Syndrome	Camptodactyly of finger, Multicystic kidney dysplasia, Bifid tongue, Ectopic anus, Ankyloglossia,...	ORPHA:1507
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Gastrostomy tube feeding in infancy, Pyloric stenosis, Failure to thrive, Contracture of the dist...	ORPHA:83617
Craniofacioskeletal Syndrome	Short stature, Hypospadias, Cleft palate, Intrauterine growth retardation, Hydronephrosis	OMIM:300712
Melnick-Needles Syndrome	Failure to thrive, Ureteral stenosis, Stillbirth, Cleft palate, Hydronephrosis	OMIM:309350
Peters Plus Syndrome	Intestinal fistula, Hydronephrosis, Renal duplication, Multicystic kidney dysplasia, Rhizomelia, ...	ORPHA:709
Meckel Syndrome, Type 1	Camptodactyly of finger, Lobulated tongue, Hypoplasia of the bladder, Polycystic kidney dysplasia...	OMIM:249000
Fanconi Anemia	Abnormality of the urinary system, Cleft palate, Aplasia/Hypoplasia of the uvula, Abnormal preput...	ORPHA:84
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Villous atrophy, Chronic diarrhea	OMIM:606367
Erdheim-Chester Disease	Weight loss, Dysuria, Hypogonadotropic hypogonadism, Renal insufficiency, Hydronephrosis	ORPHA:35687
Osteopetrosis With Renal Tubular Acidosis	High palate, Renal tubular acidosis, Short stature, Distal renal tubular acidosis, Proximal renal...	ORPHA:2785
Schwartz-Jampel Syndrome	Wrist flexion contracture, Blepharospasm, Decreased body weight, High palate, Short stature, Hip ...	ORPHA:800
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Knobloch Syndrome 1	Renal duplication, Bifid ureter, Pyloric stenosis, Duplicated collecting system, Hydronephrosis	OMIM:267750
Rubinstein-Taybi Syndrome 1

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