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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
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