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 (580 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, Failure to thr...	OMIM:615237
Congenital Short Bowel Syndrome		Intestinal malrotation, Short stature, Intestinal hypoplasia, Displacement of the urethral meatus	ORPHA:2301

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

Disease	Matching phenotypes	Source
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Megacystis, ...	OMIM:619350
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, ...	OMIM:611376
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Urinary retention, Malnutrition, M...	OMIM:155310
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Gastroparesis, Malabsorption, Abnormal ga...	ORPHA:1876
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Early satiety, Diarrhea, Intestinal pseudo-obstruction, Hyperactive bowel sounds, Slender build, ...	OMIM:603041
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico...	OMIM:617805
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Systemic Sclerosis	Chronic kidney disease, Intestinal bleeding, Glomerulonephritis, Abnormality of the kidney, Album...	ORPHA:90291
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroesophageal reflux, Failure to thrive, Generalized hypotonia, Gastroparesis, Hypotonia, Limb...	OMIM:610131
Al Amyloidosis	Hypoalbuminemia, Gastrointestinal hemorrhage, Nephrotic syndrome, Xerostomia, Gastroparesis, Rena...	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, Failure to thrive, Recurrent urinary tract infections, Stage 2 chronic k...	OMIM:191800
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Spasticity, Failure to thrive in infancy, Elbow flexion contracture, V...	ORPHA:85285
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Failure to thri...	OMIM:615863
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Skeletal muscle atrophy, Quadriceps muscle weakness, Neonatal hypotonia,...	ORPHA:70
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr...	OMIM:236730
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Diarrhea, Vomiting, Failure to thrive, Renal tubular dysfunction, Abno...	OMIM:606528
Cat-Eye Syndrome	Intrauterine growth retardation, Hypotonia, Renal hypoplasia/aplasia, Hydronephrosis, Anal atresi...	ORPHA:195
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ...	OMIM:143400
Desmoid Tumor	Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestinal obstruction, Hydrone...	ORPHA:873
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Failure to thrive, Villous atrophy, Crypt hyperplasia, Small for gestationa...	OMIM:613217
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Malnutrition, Protracted diarrhea, Villous atrophy, Abnormal intestine morphology, Growth delay	OMIM:251850
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gastroparesis, Increased variability in muscle fiber diameter, Intestinal pseudo-obstruction, Rag...	ORPHA:70595
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio...	ORPHA:103907
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Horseshoe kidney, Gastroparesis, Obesity, Vesicoure...	OMIM:616368
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Bifid uvula, Abnormality of the urinary system	ORPHA:2669
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C...	ORPHA:84085
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Alg1-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Decreased liver function, Hypotonia, Renal insuffici...	ORPHA:79327
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Protein-losing enteropathy, Hepatic failure, Diarrhea, Vomiting, Proximal tubulo...	OMIM:602579
Congenital Myopathy 19	Skeletal muscle atrophy, Congenital contracture, Generalized hypotonia, Infantile axial hypotonia...	OMIM:618578
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Gastroparesis, Hypotonia, Rigidity, Hypertonia, Urinary incontinence, Dystonia, Bowel...	OMIM:618877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Growth delay, Failure to thrive, Generalized hypotonia, Gastroparesis, Intrauterine growth retard...	OMIM:614052
Autosomal Dominant Progressive External Ophthalmoplegia	Limb muscle weakness, Myopathy, Hypomimic face, Dysphagia, Gastroesophageal reflux, Quadriceps mu...	ORPHA:254892
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Skele...	OMIM:607459
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Neonatal death, Hydronephrosis, Renal cyst, Small thenar eminence...	OMIM:613390
Macdermot-Winter Syndrome	Hydronephrosis, Intrauterine growth retardation, Hypoplastic male external genitalia	OMIM:247990
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s...	ORPHA:2198
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Volvulus, Failure to thrive, Recurrent urinary tract i...	ORPHA:2970
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Bile Acid Malabsorption, Primary, 1	Growth delay, Failure to thrive, Increased fecal bile acid, Steatorrhea, Chronic diarrhea, Fat ma...	OMIM:613291
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Failure to thr...	OMIM:615237
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy, Lacticaciduria	OMIM:619063
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Small Bowel Atresia	Vomiting, Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atr...	ORPHA:1201
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Gastroparesis, Limb musc...	OMIM:157640
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Diarrhea 9	Diarrhea, Villous atrophy, Failure to thrive	OMIM:618168
Axial Mesodermal Dysplasia Spectrum	Abnormal localization of kidney, Gastroesophageal reflux, Abnormality of the urinary system, Anor...	ORPHA:1834
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Intestinal pseudo-obstruction...	ORPHA:352665
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Failure to thrive, Malnutrition, Villous atrophy, Abnormal small in...	ORPHA:95427
Image Syndrome	Hypogonadism, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Hypospadias	ORPHA:85173
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Neopla...	ORPHA:2869
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Ureteral agenesis, Intrauterine growth retardation, Anal atresia, Ureteral dysgen...	OMIM:274265
Mgat2-Cdg	Gastroesophageal reflux, Failure to thrive, Generalized hypotonia, Gastroparesis, Hypotonia, Gast...	ORPHA:79329
Chylomicron Retention Disease	Hypoalbuminemia, Vomiting, Diarrhea, Failure to thrive, Malnutrition, Accumulation of lipid dropl...	OMIM:246700
Alpha-Heavy Chain Disease	Abdominal pain, Abnormal small intestine morphology, Growth delay, Malabsorption	ORPHA:100025
Acute Transverse Myelitis	Spasticity, Urinary retention, Upper limb muscle weakness, Urinary bladder sphincter dysfunction,...	ORPHA:139417
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Congenital Enterocyte Heparan Sulfate Deficiency	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Weight loss, Abnormal circul...	ORPHA:103910
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Jejunal Atresia	Jejunal atresia	OMIM:243600
Young-Onset Parkinson Disease	Spasticity, Diarrhea, Gastroparesis, Rigidity, Constipation, Nausea, Dystonia	ORPHA:2828
Immunodeficiency 77	Gastroparesis	OMIM:619223
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Gastroesophageal reflux, Vomiting, Failure to thrive, Nasoga...	ORPHA:1018
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Generalized hypotonia, Postnatal growth retardation, Vesicoureteral reflux, Nephroli...	OMIM:617219
Eosinophilic Gastroenteritis	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Abn...	ORPHA:2070
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Failure to thrive, Hypotonia, Chronic constipation, Hydronephrosis, Sh...	OMIM:609757
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Multicystic kidney dysplasia, Hydroureter, Megacystis, Intestinal malrotation, Nausea...	ORPHA:2241
Prune Belly Syndrome	Xerostomia, Hydroureter, Aplasia of the abdominal wall musculature, Hydronephrosis, Anal atresia,...	OMIM:100100
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Gastroesophageal reflux, Growth delay, Neonatal hypotonia, Intestinal malrotation, Hydronephrosis...	ORPHA:457193
Renal Dysplasia	Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Prader-Willi Syndrome	Vomiting, Xerostomia, Failure to thrive, Gastroparesis, Hypotonia, Abdominal obesity, Short statu...	ORPHA:739
Bardet-Biedl Syndrome 19	Renal hypoplasia, Hypogonadism, Obesity, External genital hypoplasia, Renal insufficiency, Hydron...	OMIM:615996
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Igg4-Related Aortitis	Intestinal obstruction, Hydronephrosis, Weight loss, Elevated circulating C-reactive protein conc...	ORPHA:449400
Occipital Horn Syndrome	High, narrow palate, Gastroesophageal reflux, Recurrent urinary tract infections, Gastroparesis, ...	ORPHA:198
Vascular Hyalinosis	Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption	OMIM:277175
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Protein-losing enteropathy, Vomiting, Diarrhea, Failure to thrive, Decreased liv...	OMIM:608104
Alg6-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Failure to thrive, Hypotonia, Macroglossia, Feeding ...	ORPHA:79320
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Neonatal death, Hydronephrosis, Abdominal distention, Fetal megacystis	OMIM:619362
Mpi-Cdg	Hypoalbuminemia, Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Fai...	ORPHA:79319
Cardiospondylocarpofacial Syndrome	Gastroesophageal reflux, Failure to thrive, Horseshoe kidney, Gastroparesis, Hypotonia, Vesicoure...	OMIM:157800
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Failure to thrive, Abnormal large intestinal mucosa morphology, Vil...	ORPHA:92050
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Anteri...	OMIM:618494
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Megacystis, Recurrent urinary tract infections, Nephrolithiasis, Fetal pyelectasis, Abdominal dis...	OMIM:619365
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Vomiting, Abnormality of the urinary system, Ureterocele, Abnormality of the ...	ORPHA:158684
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Hypotonia, Hydronephrosis, Anal...	OMIM:620511
Microvillus Inclusion Disease	Nephrocalcinosis, Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal vill...	ORPHA:2290
Johanson-Blizzard Syndrome	Failure to thrive, Anteriorly placed anus, Hypoproteinemia, Exocrine pancreatic insufficiency, In...	ORPHA:2315
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Intestinal malrotation, Re...	ORPHA:2973
Bladder Exstrophy	Bladder exstrophy, Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the...	ORPHA:93930
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Failure to thrive, Gastroparesis, Obesity, Hypotonia, Feeding difficulties in infancy, Delayed pu...	ORPHA:98754
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Duodenal stenosis, Camptodactyly of finger, Abnormality of the upper urinary tract, ...	ORPHA:2547
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Failure to thrive, Gastroparesis, Obesity, Hypotonia, Feeding difficulties in infancy, Delayed pu...	ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Failure to thrive, Gastroparesis, Obesity, Hypotonia, Feeding difficulties in infancy, Delayed pu...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Failure to thrive, Gastroparesis, Obesity, Hypotonia, Feeding difficulties in infancy, Delayed pu...	ORPHA:177901
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Na...	ORPHA:79403
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hepatic failure, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis	OMIM:619431
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Growth delay, Failure to thrive, Generalized hypotonia, Hydronephrosis, Limb hypertonia, Infantil...	ORPHA:488613
3C Syndrome	High, narrow palate, Gastroesophageal reflux, Intestinal malrotation, Postnatal growth retardatio...	ORPHA:7
Tarp Syndrome	Hepatic failure, Meckel diverticulum, Failure to thrive, Generalized hypotonia, Horseshoe kidney,...	OMIM:311900
Orofaciodigital Syndrome Xv	Hydronephrosis, Lobulated tongue	OMIM:617127
Ritscher-Schinzel Syndrome 1	Generalized hypotonia, Intrauterine growth retardation, Hypotonia, Hydronephrosis, Anal atresia, ...	OMIM:220210
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Spasticity, Generalized hypotonia, Large for gestational ...	OMIM:614080
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Renal agenesis, Intestinal malrotation, Horseshoe k...	OMIM:115470
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Unilateral renal agenesis, Gastroesophageal reflux, Spasticity, Horseshoe kidney, Ga...	ORPHA:500150
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Secretory diarrhea, Failure to thrive, Increased circulating ferritin concentrat...	OMIM:616050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Diarrhea, Vomit...	OMIM:175500
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula, Hypoproteinemia	OMIM:221400
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Spastic paraplegia, Gastroesophageal reflux, Volvulus, Recurrent urinary tract infections, Hypoto...	ORPHA:847
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Arthrogryposis multiplex congenita, Intrauterine growth retardation, Hypotonia, Vesic...	OMIM:301056
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Infantile axial hypotonia, Hypotonia, Hydronephrosis, Gastrointestinal dy...	OMIM:617798
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Hypogonadism, Obesity, Hydronephrosis, Vaginal atresia, Cystic ren...	OMIM:615989
Immunodeficiency 70	Celiac disease, Colitis, Achalasia	OMIM:618969
Webb-Dattani Syndrome	Spasticity, Gastroesophageal reflux, Obesity, Vesicoureteral reflux, Hydronephrosis, Neurogenic b...	OMIM:615926
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Growth delay, R...	ORPHA:139466
Autosomal Recessive Spastic Paraplegia Type 20	Spasticity, Distal amyotrophy, Growth delay, Skeletal muscle atrophy, Upper limb muscle weakness,...	ORPHA:101000
Trigonocephaly 1	High, narrow palate, Long penis, Meckel diverticulum	OMIM:190440
Beta-Mercaptolactate Cysteine Disulfiduria	Abnormality of the ureter, Obesity, Hypotonia, Short stature, High palate	ORPHA:1035
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic failure, Spasticity, Intrauterine growth retardation, Esophagitis, Hypotonia, Hydronephro...	ORPHA:541423
Refractory Celiac Disease	Hypoalbuminemia, Protein-losing enteropathy, Jejunitis, Malnutrition, Villous atrophy, Malabsorpt...	ORPHA:398063
Fryns Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Intestinal malrotation, Vesicoureteral ref...	ORPHA:2059
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Failure to thrive, Bloody diarrhea	OMIM:614328
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption, Failure to thrive	OMIM:607748
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Hydronephrosis, Tracheoesophageal fistula, Esophageal atresia, Urethral atresia, ...	OMIM:314390
Ileal Neuroendocrine Tumor	Hepatic failure, Intestinal fistula, Gastrointestinal obstruction, Zollinger-Ellison syndrome, Hy...	ORPHA:100078
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Protruding tongue, Chronic constipation, Axial hypotonia, Hydronephrosis, Shor...	OMIM:619179
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Arthrogrypos...	ORPHA:2461
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Joint contracture of the hand, Diarrhea, Vomiting, Failure to thrive, Arthrogryposis...	OMIM:601110
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Vesicoureteral reflux, Decreased body weight, Hydronephrosis, Short stature, Arthrogryposis multi...	OMIM:618265
Agammaglobulinemia 4, Autosomal Recessive	Protein-losing enteropathy	OMIM:613502
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bladder polyp, Bloody diarrhea, Abnormality of t...	OMIM:175200
Deafness-Vitiligo-Achalasia Syndrome	Severe short stature, Achalasia, Skeletal muscle atrophy	ORPHA:3239
Caudal Regression Syndrome	Renal agenesis, Decreased muscle mass, Abnormality of the ureter, Renal insufficiency, Vesicouret...	ORPHA:3027
Feingold Syndrome Type 1	Nephritis, Renal dysplasia, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Jejunal...	ORPHA:391641
Kleefstra Syndrome	Gastroesophageal reflux, Obesity, Hypotonia, Renal insufficiency, Vesicoureteral reflux, Hydronep...	ORPHA:261494
Zellweger Syndrome	Hepatic failure, Multicystic kidney dysplasia, Failure to thrive, Malabsorption, Hydronephrosis, ...	ORPHA:912
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Generalized hypotonia, Hypotonia, Hydronephrosis, Ab...	OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Muscular dystrophy, Ileal atresia, Generalized limb muscle atrophy, Hypotonia, Elevated circulati...	OMIM:615351
Trisomy 17P	Growth delay, Skeletal muscle atrophy, Flexion contracture, Intrauterine growth retardation, Hypo...	ORPHA:261290
Joubert Syndrome 37	Generalized hypotonia, Obesity, Hydronephrosis, Micropenis, High palate, Short stature	OMIM:619185
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Generalized hypotonia, Postnatal growth retardation,...	ORPHA:1655
Oculoskeletodental Syndrome	Protein-losing enteropathy, Renal agenesis, Elbow flexion contracture, Hypercalciuria, Mucopolysa...	OMIM:618440
Koolen-De Vries Syndrome	High, narrow palate, Hypotonia, Vesicoureteral reflux, Renal duplication, Hydronephrosis, Feeding...	ORPHA:96169
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,...	ORPHA:2842
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Nasogastric tube feeding, Infantile muscular hypotonia, Dysphagia, Feeding d...	ORPHA:163961
Osteootohepatoenteric Syndrome	Secretory diarrhea, Failure to thrive, Increased intestinal transit time, Villous atrophy, Grade ...	OMIM:619377
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Generalized hypotonia, Postnatal growth retardation, Hypotonia, Hy...	OMIM:179613
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Hydroureter, Fetal megacystis	OMIM:249210
Metachromatic Leukodystrophy	Progressive spasticity, Decerebrate rigidity, Abnormal stomach morphology, Gastrostomy tube feedi...	ORPHA:512
Congenital Short Bowel Syndrome	Intestinal malrotation, Short stature, Intestinal hypoplasia, Displacement of the urethral meatus	ORPHA:2301
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Gastroesophageal reflux, Nephrocalcinosis, Growth delay, Spastic...	OMIM:617913
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Abnormality of the ureter, Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia	ORPHA:1046
Trichohepatoenteric Syndrome 2	Diarrhea, Small for gestational age, Failure to thrive, Intrauterine growth retardation, Villous ...	OMIM:614602
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Vomiting, Diarrhea, Neonatal hypotonia, Elbow flexion contracture, Hypotonia, Renal insufficiency...	OMIM:608836
Baller-Gerold Syndrome	Abnormal localization of kidney, Anteriorly placed anus, Failure to thrive in infancy, Abnormalit...	ORPHA:1225
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Renal duplication, Abdominal distention, Ureteral dup...	OMIM:270420
Stromme Syndrome	Bilateral renal hypoplasia, Intestinal malrotation, Myopathy, Jejunal atresia, Hydronephrosis, St...	OMIM:243605
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Tetrasomy 15Q26	Horseshoe kidney, Intrauterine growth retardation, Hypotonia, Hydronephrosis, Camptodactyly, High...	OMIM:614846
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Intrauteri...	OMIM:243150
Matthew-Wood Syndrome	Renal hypoplasia, Failure to thrive, Duodenal stenosis, Horseshoe kidney, Intrauterine growth ret...	ORPHA:2470
Suleiman-El-Hattab Syndrome	Failure to thrive, Generalized hypotonia, Hydronephrosis, High palate, Feeding difficulties	OMIM:618950
Fanconi Anemia, Complementation Group W	Intrauterine growth retardation, Renal hypoplasia, Growth delay, Duodenal atresia	OMIM:617784
Wolfram Syndrome 1	Hydroureter, Growth delay, Hydronephrosis, Neurogenic bladder, Dysphagia	OMIM:222300
Zaki Syndrome	Spastic gait, Renal agenesis, Hypotonia, Congenital diaphragmatic hernia, Hydronephrosis, Hyperto...	OMIM:619648
Congenital Disorder Of Glycosylation, Type Iie	Gastroesophageal reflux, Skeletal muscle atrophy, Failure to thrive, Decreased liver function, Ge...	OMIM:608779
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
X-Linked Intellectual Disability Due To Gria3 Mutations	Spasticity, Slender build, Facial hypotonia, Hydronephrosis, Micropenis, Abnormality of muscle si...	ORPHA:364028
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Postnatal growth retardation, Gastrointestinal dysmotility, Abnormal tongue morph...	ORPHA:531151
Martinez-Frias Syndrome	Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Tracheoesophageal fistu...	OMIM:601346
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Dystonia-Deafness Syndrome 1	Oculogyric crisis, Generalized dystonia, Pseudobulbar paralysis, Leg dystonia, Achalasia, Dysphag...	OMIM:607371
Cog8-Cdg	Protein-losing enteropathy, Skeletal muscle atrophy, Failure to thrive, Infantile muscular hypotonia	ORPHA:95428
Mckusick-Kaufman Syndrome	Multicystic kidney dysplasia, Failure to thrive, Glandular hypospadias, Renal hypoplasia/aplasia,...	ORPHA:2473
Silver-Russell Syndrome 1	Abnormality of the ureter, Intrauterine growth retardation, Nephroblastoma, Urethral valve, Hypos...	OMIM:180860
Endove Syndrome, Limb-Brain Type	Gastrojejunal tube feeding in infancy, Failure to thrive, Recurrent urinary tract infections, Gen...	OMIM:619218
Pfeiffer Syndrome Type 3	Intestinal malrotation, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, High palate, Ana...	ORPHA:93260
Vacterl/Vater Association	Hypospadias, Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Intrauteri...	ORPHA:887
Kury-Isidor Syndrome	Hypotonia, Hydronephrosis, High palate, Growth delay, Feeding difficulties	OMIM:619762
Tetraploidy	Hydronephrosis, Intrauterine growth retardation, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3305
Congenital Alveolar Capillary Dysplasia	Volvulus, Duodenal stenosis, Intestinal malrotation, Hydronephrosis, Aganglionic megacolon, Trach...	ORPHA:210122
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Tracheoesophageal fistula, ...	ORPHA:2437
Basel-Vanagaite-Smirin-Yosef Syndrome	Spasticity, Gastroesophageal reflux, Furrowed tongue, Hypotonia, Hydronephrosis, Constipation, Hi...	OMIM:616449
Achalasia-Microcephaly Syndrome	Achalasia, Growth delay	ORPHA:929
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Exocrine pancreatic insufficiency, Abnormal intestine morphology, Delayed puberty, Achalasia, Sho...	OMIM:615952
Triple A Syndrome	Hypotonia, Abnormal calf musculature morphology, Achalasia, Abnormality of the hypothenar eminenc...	ORPHA:869
Trisomy 13	High, narrow palate, Abnormality of the ureter, Intrauterine growth retardation, Hypotonia, Displ...	ORPHA:3378
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Intestinal duplication, Renal hypoplasia/aplasia	ORPHA:1756
22Q11.2 Duplication Syndrome	Hypotonia, Displacement of the urethral meatus, Hydronephrosis, Growth delay, Cleft palate, Ureth...	ORPHA:1727
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis, Hypotonia, Feeding difficulties	OMIM:619797
46,Xy Sex Reversal 4	Gonadal dysgenesis, Ureteropelvic junction obstruction, Agonadism, Hydronephrosis, Hypoplastic la...	OMIM:154230
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Bor Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction ...	ORPHA:107
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Functional abnormality of the bladder, Decreased muscle mass, Horsesh...	ORPHA:2953
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Failure to thrive in infancy, Postnatal growth retardation, Intrauterine growth retar...	OMIM:611209
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue...	ORPHA:1358
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Intrauterine growt...	OMIM:615710
6P22 Microdeletion Syndrome	Hydronephrosis, Hypotonia	ORPHA:251046
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Ankle flexion contracture, Vomiting, Gastroesophageal reflux, Small fo...	ORPHA:464311
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Protein-losing enteropathy, Joint contracture of the hand, Intestinal lymphangie...	OMIM:235510
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Failure to thrive, Postnatal growth retardation, Dark urine, Renal cyst, Steator...	ORPHA:79303
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Duplicated collecting system, Hydr...	ORPHA:79404
Scleromyxedema	Gastroesophageal reflux, Abnormal skeletal muscle morphology, Myopathy, Elevated circulating crea...	ORPHA:167635
Cholestasis, Progressive Familial Intrahepatic, 2	Diarrhea, Failure to thrive, Short stature, Fat malabsorption, Hepatocellular carcinoma	OMIM:601847
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Joint contracture of the hand, Spasticity, Postnatal growth retardation, Int...	OMIM:612513
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Smith-Magenis Syndrome	Gastroesophageal reflux, Failure to thrive in infancy, Abnormality of the ureter, Obesity, Hypoto...	ORPHA:819
Distal Triplication 15Q	Dilatation of the renal pelvis, Horseshoe kidney, Intrauterine growth retardation, Large for gest...	ORPHA:314588
Chylomicron Retention Disease	Diarrhea, Vomiting, Failure to thrive, Growth delay, Myopathy, Abdominal distention, Steatorrhea,...	ORPHA:71
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Spasticity, Gastroesophageal reflux, Growth delay, Renal agenesis, Postnatal growth retardation, ...	OMIM:301040
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Diabetic Embryopathy	Renal hypoplasia/aplasia, Hydronephrosis, Aplasia/Hypoplasia of the abdominal wall musculature, M...	ORPHA:1926
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Chronic constipation, Generalized hypotonia	OMIM:618060
ERI1-related disease	Velopharyngeal insufficiency, Failure to thrive, Generalized hypotonia, Intrauterine growth retar...	OMIM:608739
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis, High palate, Cleft palate	OMIM:602418
Trisomy 1Q	Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Hydroneph...	ORPHA:261344
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Skeletal muscle atrophy	ORPHA:2400
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Colitis, Ileal ulcer	OMIM:616744
Koolen-De Vries Syndrome	Failure to thrive, Recurrent urinary tract infections, Generalized hypotonia, Intrauterine growth...	OMIM:610443
Thakker-Donnai Syndrome	Intrauterine growth retardation, Hypotonia, Congenital diaphragmatic hernia, Hydronephrosis, Trac...	ORPHA:1780
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Intrauterine growth retardation, Cryptorchidism, Hydronephrosis, Hypoplasia of pen...	ORPHA:2083
Proprotein Convertase 1/3 Deficiency	Diarrhea, Obesity, Villous atrophy, Malabsorption	OMIM:600955
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Gastroesophageal reflux, Failure to thrive, Furrowed tongue, Intrauterine growth ret...	ORPHA:453499
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Vomiting, Gastroesophageal reflux, Small for gestational age, Failure ...	ORPHA:464306
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Feeding difficulties	OMIM:618154
Maternal Uniparental Disomy Of Chromosome 4	Limb-girdle muscular dystrophy, Diarrhea, Spastic gait, Malnutrition, Postnatal growth retardatio...	ORPHA:96180
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Feeding difficulties in infancy, Dysphag...	ORPHA:1199
Joubert Syndrome 35	Renal fibrosis, Multicystic kidney dysplasia, Generalized hypotonia, Recurrent urinary tract infe...	OMIM:618161
Deafness, Congenital, With Vitiligo And Achalasia	Short stature, Achalasia, Skeletal muscle atrophy	OMIM:221350
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Vomiting, Hypotonia, Rhabdomyolysis, Elevated circulating creatine kinase concentrat...	OMIM:614921
Distal Duplication 6P	Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardation, Hydronephro...	ORPHA:1745
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Growth delay, Failure to thrive, Abnormality of the ureter, Feeding di...	ORPHA:3339
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Multiple bladder diverticula, Gastroesophageal reflux, Hypotonia, ...	OMIM:613177
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Failure to thrive, Intrauterine growth retardation, Hypotonia, Vesicoureteral r...	OMIM:618460
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Failure to thrive, Villous atrophy, Ileus, Glomerulonephritis, Chronic diarrhea	OMIM:304790
Micro Syndrome	Spasticity, Intrauterine growth retardation, Hypotonia, Hydronephrosis, Delayed puberty, High pal...	ORPHA:2510
Genitopatellar Syndrome	Multicystic kidney dysplasia, Gastroesophageal reflux, Hip contracture, Knee flexion contracture,...	ORPHA:85201
Toluene Embryopathy	Short stature, Abnormal localization of kidney, Hydronephrosis, Cryptorchidism	ORPHA:1920
Pancreatic Colipase Deficiency	Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea	ORPHA:309108
Urban-Rogers-Meyer Syndrome	Hypogonadism, Abnormality of the ureter, Obesity, Cryptorchidism, Short stature, Hypoplasia of penis	ORPHA:3409
Hardikar Syndrome	Cleft soft palate, Bilateral cleft palate, Abdominal pain, Celiac disease, Esophageal varix, Hydr...	OMIM:301068
Congenital Contractural Arachnodactyly	Congenital contracture, Arthrogryposis multiplex congenita, Camptodactyly of finger, Intestinal m...	ORPHA:115
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Growth delay, Failure to thrive, Camptodactyly of finger, Generaliz...	ORPHA:261349
Mhc Class Ii Deficiency 1	Failure to thrive, Recurrent urinary tract infections, Protracted diarrhea, Villous atrophy, Mala...	OMIM:209920
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Uterus didelphys, Septate vagina, Renal insufficiency, Vesicoureteral ...	ORPHA:2237
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Hydronephrosis, Micropenis, Flexion contracture, Hypospadias, Sm...	OMIM:616897
White-Kernohan Syndrome	Gastroesophageal reflux, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Obesity, Hypotoni...	OMIM:619426
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Polyuria, Renal dy...	OMIM:618183
Igg4-Related Retroperitoneal Fibrosis	Varicocele, Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic ...	ORPHA:49041
Duane-Radial Ray Syndrome	Anal stenosis, Renal hypoplasia, Renal agenesis, Horseshoe kidney, Pectoralis hypoplasia, Crossed...	OMIM:607323
Castleman Disease	Ureteral obstruction, Nausea and vomiting, Renal insufficiency, Intestinal obstruction, Hematuria...	ORPHA:160
Hyperphosphatasia-Intellectual Disability Syndrome	Bifid uvula, Anteriorly placed anus, Gastrostomy tube feeding in infancy, Hydronephrosis, Agangli...	ORPHA:247262
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Intrauterine growth retardat...	OMIM:300707
Penile Agenesis	Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H...	ORPHA:49
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Anteriorly placed anus, Duplicated col...	OMIM:258040
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Hypospadias, Aminoaciduria, Failure to thrive, Generalized hypotonia, Renal ...	OMIM:214100
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Postnatal growth retardation, Intrauterine growth retardation, Hypotonia, Diastasis recti, Hydron...	ORPHA:254528
Congenital Disorder Of Glycosylation, Type Il	Hypoalbuminemia, Failure to thrive, Hypotonia, Villous atrophy, Polycystic kidney dysplasia	OMIM:608776
Endove Syndrome, Limb-Only Type	Hydronephrosis, Hypoplastic labia majora, Vesicoureteral reflux	OMIM:619217
Congenital Myopathy 17	Renal hypoplasia, Generalized hypotonia, Failure to thrive in infancy, Ureteropelvic junction obs...	OMIM:618975
Fryns Syndrome	Joint contracture of the hand, Meckel diverticulum, Renal agenesis, Intestinal malrotation, Large...	OMIM:229850
Immunodeficiency 85 And Autoimmunity	Vomiting, Failure to thrive in infancy, Villous atrophy, Tube feeding, Chronic diarrhea, Growth d...	OMIM:619510
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive	OMIM:613735
Mednik Syndrome	Microcolon, Diarrhea, Volvulus, Hypotonia, Neonatal death, Jejunal atresia, Growth delay	OMIM:609313
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, F...	ORPHA:90362
Plasminogen Deficiency, Type I	Nephritis, Generalized hypotonia, Nephrolithiasis, Decreased level of plasminogen, Duodenal ulcer	OMIM:217090
Dextrocardia	Intestinal malrotation, Abnormality of the ureter, Meckel diverticulum, Abnormal renal morphology	ORPHA:1666
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Ureteral stenosis, Nausea and vomiting, Renal insufficiency, Intesti...	ORPHA:900
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, Abno...	ORPHA:280633
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Diarrhea, Failure to thrive, Acholic stools, Steatorrhea, Fat malabsorption	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1	Short stature, Diarrhea, Fat malabsorption, Failure to thrive	OMIM:211600
Trisomy 20P	Camptodactyly of finger, Abnormality of the ureter, Hypotonia, Hydronephrosis, Ectopic anus, Mult...	ORPHA:261318
Trichothiodystrophy 3, Photosensitive	Meckel diverticulum, Failure to thrive, Intrauterine growth retardation, Hypertonia, Short statur...	OMIM:616395
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Anteriorly placed anus, Obesity, Hypotonia, Vesicoureteral reflux, Axial hypotonia, Hydronephrosi...	OMIM:618653
Xanthinuria, Type I	Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria	OMIM:278300
Posterior Column Ataxia With Retinitis Pigmentosa	Joint contracture of the hand, Skeletal muscle atrophy, Recurrent urinary tract infections, Flexi...	OMIM:609033
Mesomelia-Synostoses Syndrome	High, narrow palate, Hydronephrosis, Short stature, Aplasia/Hypoplasia of the uvula	ORPHA:2496
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Intestinal malrotation, Horseshoe kidney, Intrauter...	ORPHA:99776
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, High palate, Spastic gait, Short stature	ORPHA:3079
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Camptodactyly of finger, Duodenal stenosis	ORPHA:1759
Mirage Syndrome	Gastroesophageal reflux, Microphallus, Recurrent urinary tract infections, Intrauterine growth re...	OMIM:617053
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Generalized hypotonia, Hydronephrosis, Short stature, Anal atresia, Cleft palate, Re...	OMIM:300968
Developmental Delay, Language Impairment, And Ocular Abnormalities	Short stature, Hydronephrosis	OMIM:620141
Tarp Syndrome	Failure to thrive, Generalized hypotonia, Horseshoe kidney, Intrauterine growth retardation, Hydr...	ORPHA:2886
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Growth delay, Skeletal muscle atrophy, Villous atrophy, Wei...	OMIM:614162
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Dysphagia	OMIM:615750
Developmental Malformations-Deafness-Dystonia Syndrome	Generalized dystonia, Achalasia, Short stature, Macroglossia, Dysphagia	ORPHA:79107
Trisomy 18	Camptodactyly of finger, Intrauterine growth retardation, Hypotonia, Congenital diaphragmatic her...	ORPHA:3380
Distal Deletion 12Q	High, narrow palate, Microglossia, Growth delay, Congenital hypertrophy of left ventricle, Genera...	ORPHA:96149
Alg9-Cdg	Bifid uvula, Rhizomelia, Vomiting, Gastroesophageal reflux, Diarrhea, Hypoplasia of the bladder, ...	ORPHA:79328
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Gastroesophageal reflux, Camptodactyly of finger, Acute hepatic fai...	ORPHA:2092
Au-Kline Syndrome	Chronic kidney disease, Bifid uvula, Gastroesophageal reflux, Dilatation of the renal pelvis, Fai...	OMIM:616580
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Renal agenesis, Submucous cleft hard palate, Tracheoesophageal fistula...	OMIM:619227
Cloacal Exstrophy	Intestinal duplication, Ureterocele, Hydroureter, Bladder exstrophy, Intestinal malrotation, Hors...	ORPHA:93929
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Malabsorption, Duodenal ulcer, Cachexia, Steatorrhea, Chronic diarrhea	ORPHA:3217
Smith-Lemli-Opitz Syndrome	Abdominal distention, Duplicated collecting system, Hypospadias, Gastroesophageal reflux, Renal a...	OMIM:270400
Cardiofaciocutaneous Syndrome 1	Vomiting, Gastroesophageal reflux, Failure to thrive, Generalized hypotonia, Hypotonia, Submucous...	OMIM:115150
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Spasticity, Failure to thrive, Decreased liver function, Postnatal growth retard...	OMIM:617093
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Hypotonia, Ureteropelvic junction obstruction, Hydronephrosis, D...	OMIM:617557
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Short stature, Achalasia	ORPHA:436174
Pallister-Hall Syndrome	Renal hypoplasia, Microglossia, Hydroureter, Growth delay, Anteriorly placed anus, Distal urethra...	OMIM:146510
Intellectual Developmental Disorder, Autosomal Dominant 42	Growth delay, Failure to thrive, Lower limb muscle weakness, Infantile axial hypotonia, Hypotonia...	OMIM:616973
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Abnormality of the ureter, Polycystic ovaries, Renal hypoplasia/aplasia, Shor...	ORPHA:1770
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Small for gestational age, Generalized hypotonia, Postnatal growth ...	OMIM:257300
American Trypanosomiasis	Diarrhea, Aganglionic megacolon, Achalasia, Abdominal pain, Abnormal large intestine physiology	ORPHA:3386
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Diarrhea, Vomiting, Proximal tubulopathy, Failure to thrive, Hypotonia, Villous ...	OMIM:212065
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Generalized hypotonia, Intestinal malrotation, Hypotonia, Diastasis recti, Hiatus hernia, Hydrone...	OMIM:601776
Microphthalmia, Syndromic 9	Severe short stature, Renal hypoplasia, Horseshoe kidney, Intrauterine growth retardation, Crypto...	OMIM:601186
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Intrauterine growth retardation, Hydronephrosis, Sh...	ORPHA:1297
Intellectual Disability-Alacrima-Achalasia Syndrome	Enuresis, Achalasia, Dysphagia	ORPHA:289483
Scedosporiosis	Abnormal jejunum morphology, Abnormal renal morphology	ORPHA:449280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Meckel diverticulum, Dilatation of the renal pelvis, Hydrou...	OMIM:265380
Igg4-Related Kidney Disease	Chronic kidney disease, Urethritis, Hematuria, Weight loss, Elevated circulating C-reactive prote...	ORPHA:449395
Nijmegen Breakage Syndrome	Anal stenosis, Diarrhea, Recurrent urinary tract infections, Intrauterine growth retardation, Rec...	OMIM:251260
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Nephrocalcinosis, Generalized hypotonia, Multiple joint ...	ORPHA:264450
Mckusick-Kaufman Syndrome	Hydroureter, Hydronephrosis, Aganglionic megacolon, Polycystic kidney dysplasia, Anal atresia, Re...	OMIM:236700
Vater/Vacterl Association	Renal agenesis, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation,...	OMIM:192350
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Intestinal atresia, Duodenal atresia	ORPHA:3405
Jacobsen Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Intrauterine growth retardation, Hydronephr...	ORPHA:2308
Dubowitz Syndrome	Anal stenosis, Postnatal growth retardation, Intrauterine growth retardation, Malabsorption, Subm...	ORPHA:235
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Failure to thrive, Microphallus, Intrauterine growth retardation, Vesicouretera...	OMIM:603467
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short stature, Abnormality of the ureter, Hypospadias	ORPHA:2522
1Q21.1 Microdeletion Syndrome	Failure to thrive, Ankyloglossia, Intrauterine growth retardation, Hypotonia, Vesicoureteral refl...	ORPHA:250989
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Abnormality of the urinary system, Small hypothenar eminence, Contractures o...	ORPHA:96092
Fanconi Anemia, Complementation Group B	Renal agenesis, Intrauterine growth retardation, Tracheoesophageal fistula, Esophageal atresia, M...	OMIM:300514
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Severe postnatal growth retardation, Short stature, High palate, Flexion contracture	ORPHA:35173
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Colonic Atresia	Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis	ORPHA:1198
15Q Overgrowth Syndrome	High, narrow palate, Bifid uvula, Ureterovesical stenosis, Contracture of the proximal interphala...	ORPHA:314585
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Spasticity, Male urethral meatus stenosis, Furrowed tongue, Hypotonia, Contr...	ORPHA:464738
Noonan Syndrome 4	Large for gestational age, Cryptorchidism, Hydronephrosis, Short stature, Ureteral duplication	OMIM:610733
Tetrasomy 18P	Achalasia	ORPHA:3307
Opitz Gbbb Syndrome	Hypospadias, Abnormality of the urinary system, Ankyloglossia, Vesicoureteral reflux, Congenital ...	ORPHA:2745
Kabuki Syndrome	Hypospadias, Abnormal localization of kidney, Failure to thrive, Crossed fused renal ectopia, Obe...	ORPHA:2322
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Generalized hypotonia, Vesicoureteral reflux, Hydronephrosis, Sever...	OMIM:620663
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Intrauterine growth retardation, Distal lower limb amyotrophy, Uretero...	ORPHA:506358
Carpenter Syndrome 1	Joint contracture of the hand, Hydroureter, Obesity, Hydronephrosis, Camptodactyly, Short stature...	OMIM:201000
Netherton Syndrome	Aminoaciduria, Malabsorption, Hydronephrosis, Short stature, Ectopic kidney	ORPHA:634
Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypoperistalsis	OMIM:613834
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Spasticity, Generalized hypotonia, Hypotonia, Achalasia, Esophageal stenosis, Dysphagia, Feeding ...	OMIM:615510
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Hypotonia, Ineffective esophageal peristalsis, Chronic constipation, Gas...	OMIM:619482
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Ureteral obstruction, Hiatus hernia, Hydroneph...	OMIM:304150
Pearson Marrow-Pancreas Syndrome	3-Methylglutaric aciduria, Hepatic failure, Vomiting, Failure to thrive, Exocrine pancreatic insu...	OMIM:557000
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Diarrhea, Vomiting, Anuria, Bloody diarrhea, Rectal prolapse, Peritonitis, H...	ORPHA:90038
Okamoto Syndrome	Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Intestinal malrotation,...	ORPHA:2729
Pelvis-Shoulder Dysplasia	Microglossia, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Hydronephrosis, Neon...	ORPHA:2839
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Hydroureter, Functional abnormality of the bladder, Failure to thrive, Nausea ...	ORPHA:223
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Hepatic failure, Fat malabsorption, Failure to thrive	OMIM:214950
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, Growth delay, Intestinal malrotation, Postnatal growth retard...	OMIM:147920
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormality of the ureter, A...	ORPHA:141127
Frontometaphyseal Dysplasia 1	Ankle flexion contracture, Hypoplasia of the musculature, Hydroureter, Skeletal muscle atrophy, I...	OMIM:305620
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Xerostomia, Ureterocele, Anteriorly placed anus, Hydroureter, Renal agenesis, Mega...	OMIM:604292
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Microphthalmia, Lenz Type	Hydroureter, Cryptorchidism, Renal hypoplasia/aplasia, Hydronephrosis, Short stature, Hypospadias	ORPHA:568
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126840
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Feeding ...	ORPHA:818
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Intrauteri...	OMIM:617914
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Horseshoe kidney, Intrauterine growth retardation, G...	ORPHA:1708
Mosaic Trisomy 8	Camptodactyly of finger, Vesicoureteral reflux, Hydronephrosis, Short stature, High palate, Arthr...	ORPHA:96061
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Juvenile Polyposis Syndrome	Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Small intestinal polyposis, Abdomi...	ORPHA:2929
1P36 Deletion Syndrome	Hypospadias, Gastroesophageal reflux, Failure to thrive, Camptodactyly of finger, Obesity, Hypoto...	ORPHA:1606
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Acute kidney injury, Oliguria, Growth de...	ORPHA:731
Lethal Congenital Contracture Syndrome 2	Hydronephrosis, Dilated cardiomyopathy	OMIM:607598
Microform Holoprosencephaly	Renal agenesis, Intrauterine growth retardation, EMG: myopathic abnormalities, Short stature, Hyp...	ORPHA:280200
Familial Visceral Myopathy	Hydroureter, Megacystis, Camptodactyly of finger, Vesicoureteral reflux, Aganglionic megacolon, A...	ORPHA:2604
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Gastroesophageal reflux, Abnormality of the urinary system, Failure to thrive, Growth delay, Recu...	ORPHA:353281
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Hypotonia, Su...	ORPHA:1340
Aredyld Syndrome	Short stature, Intrauterine growth retardation, Cachexia, Abnormality of the ureter	ORPHA:1133
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Microphallus, Hypotonia, Vesicoureteral reflux, Congenital diaphragmatic hernia...	OMIM:618454
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Hydronephrosis, Limb hypertonia, Limb joint contracture, Axial h...	OMIM:620327
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bifid clitoris, Bladder exstrophy, Epis...	OMIM:600057
Monosomy 22Q13.3	Gastroesophageal reflux, Neonatal hypotonia, Obesity, Recurrent pyelonephritis, Nausea and vomiti...	ORPHA:48652
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Congenital diaphragmatic hernia, Abnormal gastrointe...	ORPHA:2847
Floating-Harbor Syndrome	Nephrocalcinosis, Gastroesophageal reflux, Dilatation of the renal pelvis, Renal agenesis, Growth...	ORPHA:2044
Arboleda-Tham Syndrome	Gastroesophageal reflux, Growth delay, Neonatal hypotonia, Recurrent urinary tract infections, In...	OMIM:616268
Hoxha-Aliu Syndrome	Hydronephrosis, High palate, Vesicoureteral reflux, Contracture of the proximal interphalangeal j...	OMIM:620662
Zollinger-Ellison Syndrome	Hematochezia, Gastrointestinal hemorrhage, Peptic ulcer, Diarrhea, Increased urinary cortisol lev...	ORPHA:913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Limb-girdle muscular dystrophy, Generalized hypotonia, Intrauterine growth retardation, Esophagit...	OMIM:615356
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Abnormality of the ureter, Intrauterine growth retardation, Congenital d...	ORPHA:2311
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Achalasia, Short stature, Cleft palate, Feeding difficulties	OMIM:600987
Duodenal Atresia	Duodenal atresia	OMIM:223400
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Short stature, Duodenal atresia	ORPHA:3004
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Gastroesophageal reflux, Hydroureter, Urinary retent...	ORPHA:90324
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Failure to thrive, Progressive spastic paraplegia, Intrauterine gr...	OMIM:247200
Teebi-Shaltout Syndrome	High, narrow palate, Ureteral stenosis, Horseshoe kidney, Hydronephrosis, Camptodactyly, Short st...	OMIM:272950
Netherton Syndrome	Recurrent infection of the gastrointestinal tract, Villous atrophy, Intestinal atresia, Failure t...	OMIM:256500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Renal cortical hyperechogenicity, Anuria, Ileal atresia, Megacystis, Pyelonephritis, ...	OMIM:619351
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Obesity, Hypotonia, Protruding tongue, Chro...	ORPHA:870
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer, Hyperpepsinogenemia I	OMIM:126850
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hypoplasia of the small intestine, Enlarged kidney, Cystic renal dysplasia	OMIM:200995
Exstrophy-Epispadias Complex	Penoscrotal transposition, Anal stenosis, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, ...	ORPHA:322
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Hydronephrosis, Anal atresia, Urethral atresia, Abdominal distention	OMIM:271520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Xerostomia, Ureterocele, Hydroureter, Renal agenesis, Vesicoureteral reflux, Hydronephrosis, Abse...	OMIM:129900
Meier-Gorlin Syndrome 7	Anal stenosis, Growth delay, Anteriorly placed anus, Duodenal stenosis, Vesicoureteral reflux, De...	OMIM:617063
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Growth delay, Generalized hypotonia, Obesity, Congenital ...	ORPHA:96121
Genitopatellar Syndrome	Malrotation of small bowel, Anal stenosis, Multicystic kidney dysplasia, Anteriorly placed anus, ...	OMIM:606170
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Nephrotic syndrome, Skeletal muscle ...	ORPHA:110
Schinzel-Giedion Syndrome	Hypospadias, Spasticity, Anteriorly placed anus, Failure to thrive in infancy, Abnormality of the...	ORPHA:798
Raine Syndrome	Hydroureter, Protruding tongue, Neonatal death, Hydronephrosis, Short stature, High palate, Arthr...	OMIM:259775
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, High palate, Ureteral triplication	OMIM:104350
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Gastroesophageal reflux, Spastic tetraparesis, Generalized hypotonia, Furrowed tongue, Intrauteri...	OMIM:616975
Apert Syndrome	Bifid uvula, Rhizomelic arm shortening, Hydronephrosis, Ectopic anus, Esophageal atresia, Narrow ...	OMIM:101200
Isolated Biliary Atresia	Failure to thrive, Decreased liver function, Severe failure to thrive, Dark yellow urine, Acholic...	ORPHA:30391
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/...	ORPHA:261265
Autosomal Recessive Cutis Laxa Type 1	Multiple bladder diverticula, Urethral diverticulum, Small bowel diverticula, Recurrent urinary t...	ORPHA:90349
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia	OMIM:619608
Melnick-Needles Syndrome	Short stature, Hydronephrosis, Vesicoureteral reflux	ORPHA:2484
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
Liver Disease, Severe Congenital	Diarrhea, Abdominal distention, Hypospadias, Hypoproteinemia, Aminoaciduria, Chronic gastritis, P...	OMIM:619991
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Diarrhea, Functional abnormality of the bladder, Villous atrophy, Renal artery stenosis, Renovasc...	ORPHA:391487
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,...	OMIM:147060
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Obesity, Proportionate short stature, Hydronephrosis, G...	OMIM:619269
Diphallia	Penoscrotal transposition, Gastrointestinal duplication, Bladder exstrophy, Duplicated colon, Hor...	ORPHA:227
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Zygomycosis	Colon perforation, Hematochezia, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Nephritis, Rena...	ORPHA:73263
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Muscular dystrophy, Intrauterine growth retardation, Stomach cancer...	ORPHA:1052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe short stature, Unilateral renal agenesis, Hypospadias, Abnormal renal collecting system mo...	ORPHA:468631
Otopalatodigital Syndrome Type 2	Failure to thrive, Camptodactyly of finger, Ureteral obstruction, Hydronephrosis, Glossoptosis, H...	ORPHA:90652
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Bifid uvula, Intractable diarrhea, Hepatic failure, Galactosuria, Failure to thr...	OMIM:222470
Syndromic Diarrhea	Intractable diarrhea, Renal hypoplasia, Small for gestational age, Intrauterine growth retardatio...	ORPHA:84064
Coffin-Siris Syndrome 1	Renal hypoplasia, Hydroureter, Intestinal malrotation, Postnatal growth retardation, Intrauterine...	OMIM:135900
Al-Gazali Syndrome	Hydronephrosis, Failure to thrive	OMIM:609465
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Hamartoma of tongue, Exocrine pancreatic insufficiency, Renal insuf...	ORPHA:2750
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Inflammation of the large intestine, Failure to thrive, Villous atrophy, Coli...	OMIM:614700
Cousin Syndrome	Rhizomelia, Disproportionate short stature, Microglossia, Joint contracture of the hand, Hydronep...	OMIM:260660
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Failure to thrive, Recurrent urinary tract infections, Myopathy, Hydronephrosis, Perianal abscess...	OMIM:612541
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Hepatic failure, Hypotonia, Knee flexion contracture, Hydronephrosis	OMIM:620454
Alagille Syndrome	Failure to thrive, Abnormality of the ureter, Intrauterine growth retardation, Cryptorchidism, Re...	ORPHA:52
Frontometaphyseal Dysplasia	Bifid uvula, Hypoplasia of the musculature, Joint contracture of the hand, Interphalangeal joint ...	ORPHA:1826
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Duodenal atresia, Intrauterine growth retardation, Hypotonia, Severe intrauterine gro...	OMIM:614114
Duodenal Atresia	Duodenal atresia	ORPHA:1203
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Gastroesophageal reflux, Abnormality of the urinary system, Failure to thrive, Recurrent urinary ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Gastroesophageal reflux, Abnormality of the urinary system, Failure to thrive, Recurrent urinary ...	ORPHA:353277
Achalasia, Familial Esophageal	Xerostomia, Achalasia	OMIM:200400
Campomelic Dysplasia	Hydronephrosis, Short stature, Cleft palate	ORPHA:140
Diets-Jongmans Syndrome	Generalized hypotonia, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Short st...	OMIM:618846
Eec Syndrome	Xerostomia, Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Sh...	ORPHA:1896
Charge Syndrome	Gastroesophageal reflux, Horseshoe kidney, Postnatal growth retardation, Intrauterine growth reta...	ORPHA:138
Feingold Syndrome	Short stature, Esophageal atresia, Duodenal atresia	ORPHA:1305
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Enuresis, Growth delay, Renal agenesis, Intrauterine growth retardation, Grade III v...	OMIM:619522
15q26 overgrowth syndrome	Duplication of renal pelvis, Renal agenesis, Camptodactyly of finger, Horseshoe kidney, Vesicoure...	DECIPHER:81
Cerebellar-Facial-Dental Syndrome	Severe short stature, Infancy onset short-trunk short stature, Failure to thrive, Ureteropelvic j...	ORPHA:444072
Renal-Hepatic-Pancreatic Dysplasia 1	Intestinal malrotation, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Ne...	OMIM:208540
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Failure to thrive, Hydronephrosis, Abnormality of the upper urinary tract, Growth de...	ORPHA:2995
Schinzel-Giedion Midface Retraction Syndrome	Hydroureter, Failure to thrive, Ureteral stenosis, Postnatal growth retardation, Hydronephrosis, ...	OMIM:269150
Peters Plus Syndrome	Multicystic kidney dysplasia, Rhizomelia, Disproportionate short-limb short stature, Intestinal f...	ORPHA:709
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Generalized hypotonia, Hydronephrosis, Camptodactyly, Hypospadias	OMIM:616737
Ventriculomegaly With Defects Of The Radius And Kidney	Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis	OMIM:602200
Johanson-Blizzard Syndrome	Colonic diverticula, Hepatic failure, Small for gestational age, Failure to thrive, Anteriorly pl...	OMIM:243800
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Postnatal growth retardation, Rhizomelia, Failure to thrive	OMIM:302960
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Fat malabsorption	ORPHA:79302
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Pelvic kidney, Cryptorchidism	OMIM:613001
Knobloch Syndrome 1	Bifid ureter, Renal duplication, Hydronephrosis, Duplicated collecting system, Pyloric stenosis	OMIM:267750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation, Contracture of ...	ORPHA:83617
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Vomiting, Small bowel diverticula, Postnatal growth retardation, Pyelo...	ORPHA:90348
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Multicystic kidney dysplasia, Hydroureter, Camptodactyly of finger, Hypotoni...	ORPHA:373
Whim Syndrome	Abnormal small intestine morphology, Parotitis	ORPHA:51636
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Failure to thrive in infancy, Villous atrophy, Chronic diarrhea	OMIM:606367
Ellis Van Creveld Syndrome	Neonatal short-limb short stature, Hydroureter, Failure to thrive, Abnormal morphology of female ...	ORPHA:289
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Disproportionate short-limb short stature, Camptodactyly of finger,...	ORPHA:1507
Fanconi Anemia	Aplasia/Hypoplasia of the uvula, Renal hypoplasia/aplasia, Weight loss, High palate, Anal atresia...	ORPHA:84
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Ineffective esophageal peristalsis, Feeding difficulties, Chronic constipa...	OMIM:209880
3Mc Syndrome 1	Postnatal growth retardation, Diastasis recti, Hydronephrosis, Growth delay, Cleft palate	OMIM:257920
Viss Syndrome	Cleft soft palate, Chronic constipation, Contracture of the proximal interphalangeal joint of the...	OMIM:619472
Melnick-Needles Syndrome	Failure to thrive, Ureteral stenosis, Hydronephrosis, Stillbirth, Cleft palate	OMIM:309350
Glucocorticoid Deficiency 2	Spastic tetraparesis, Achalasia	OMIM:607398
Craniofacioskeletal Syndrome	Intrauterine growth retardation, Hydronephrosis, Short stature, Hypospadias, Cleft palate	OMIM:300712
Erdheim-Chester Disease	Renal insufficiency, Hydronephrosis, Hypogonadotropic hypogonadism, Weight loss, Dysuria	ORPHA:35687
Meckel Syndrome, Type 1	Elevated amniotic fluid alpha-fetoprotein, Hypoplasia of the bladder, Renal agenesis, Camptodacty...	OMIM:249000
Holoprosencephaly 3	Hydronephrosis, Bifid uvula, Cleft palate	OMIM:142945
Schwartz-Jampel Syndrome	Blepharospasm, Abnormality of the urinary system, Skeletal muscle atrophy, Shoulder flexion contr...	ORPHA:800
Hereditary Orotic Aciduria	Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria	ORPHA:30
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Renal hypoplasia, Hypoplasia of penis, Disproportionate short-limb short stature, Hydronephrosis,...	ORPHA:93271
Rubinstein-Taybi Syndrome 1	High, narrow palate, Narrow palate, Gastroesophageal reflux, Growth delay, Failure to thrive, Pos...	OMIM:180849
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome

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