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Gene: Clmp MGI:1918816

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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.

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
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Displacement of the urethral meatus, Short stature, Intestinal malrotation ORPHA:2301

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
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Mungan Syndrome
Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,... OMIM:611376
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at... ORPHA:1876
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t... OMIM:617805
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Gas... ORPHA:90291
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Elevated circulating creatine kinase concentration, Facial palsy, Hypotonia, Const... OMIM:610131
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Renal insufficiency, Incr... 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
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Short stature, Failure to thrive in infancy, Ankle flexion contracture, Elbow fl... ORPHA:85285
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Diarrhea, Protein-losing enteropathy, Vomiting, Hypoalbuminemia... OMIM:615863
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp... ORPHA:873
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Feeding difficulties in infancy, Pyloric s... OMIM:300048
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Gastroparesis, Quadriceps muscle weakness, ... ORPHA:70
Cat-Eye Syndrome
Short stature, Renal hypoplasia/aplasia, Hypotonia, Abnormal localization of kidney, Intrauterine... ORPHA:195
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Generalized aminoaciduria, Renal tubular dysfunction, ... OMIM:606528
Urofacial Syndrome 1
Recurrent urinary tract infections, Urethral valve, Hydroureter, Cryptorchidism, Urethral obstruc... OMIM:236730
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ... ORPHA:103907
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Crypt hyperplasia, Intractable diarrhea, Failure to t... OMIM:613217
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Intestinal pseudo-obstr... ORPHA:70595
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... OMIM:613291
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system, Bifid uvula ORPHA:2669
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Alg1-Cdg
Abnormality of the gastrointestinal tract, Renal insufficiency, Abnormality of the kidney, Chroni... ORPHA:79327
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Chops Syndrome
Gastroparesis, Short stature, High, narrow palate, Obesity, Horseshoe kidney, Constipation, Gastr... OMIM:616368
Congenital Disorder Of Glycosylation, Type Ib
Villous atrophy, Failure to thrive, Diarrhea, Hypotonia, Renal cyst, Proximal tubulopathy, Protei... OMIM:602579
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Bowel incontinence, Enuresis, Constipati... ORPHA:84085
Congenital Myopathy 19
Skeletal muscle atrophy, Axial hypotonia, Facial hypotonia, Renal atrophy, Congenital contracture... OMIM:618578
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Gastroparesis, Urinary incontinence, Bowel incontinence, Rigidity, Hypotonia, Hypertonia, Dystoni... OMIM:618877
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Gastroparesis, Hypospadias, Small for gestational age, Hypotonia, Growth delay, 3-Methylglutaconi... OMIM:614052
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... ORPHA:254892
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Fanconi Anemia, Complementation Group O
Short stature, Rectal atresia, Stage 5 chronic kidney disease, Renal cyst, Small thenar eminence,... OMIM:613390
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Gastroparesis, Intestinal pseudo-obstruction, Centrall... OMIM:607459
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hydronephrosis, Hypoplastic male external genitalia OMIM:247990
Prune Belly Syndrome
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal insufficiency, Intestinal... ORPHA:2970
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los... OMIM:619079
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy, Lacticaciduria OMIM:619063
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Vesicoureteral Reflux 3
Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Hydroureter, Grade III vesico... OMIM:613674
Small Bowel Atresia
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Abdominal distenti... ORPHA:1201
Autoinflammatory Disease, Familial, Behcet-Like 3
Ileitis OMIM:618287
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Gastroparesis, Facial palsy, Rigidity, Ragged-red muscle fibers, Rhabdom... OMIM:157640
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Hydronephrosis, Anal atresia OMIM:235760
Axial Mesodermal Dysplasia Spectrum
Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Anorectal anomaly, Abno... ORPHA:1834
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Diarrhea 9
Villous atrophy, Failure to thrive, Diarrhea OMIM:618168
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Feeding difficult... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Gastroparesis, Feeding difficult... ORPHA:352665
Peutz-Jeghers Syndrome
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In... ORPHA:2869
Image Syndrome
Hypospadias, Cryptorchidism, Hypogonadism, Intrauterine growth retardation, Hydronephrosis ORPHA:85173
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Intrauterine growth retardation, Ureteral dysgenesis, Anal atr... OMIM:274265
Alpha-Heavy Chain Disease
Growth delay, Abnormal small intestine morphology, Abdominal pain, Malabsorption ORPHA:100025
Chylomicron Retention Disease
Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Growth delay, ... OMIM:246700
Mgat2-Cdg
Gastroparesis, Hypotonia, Feeding difficulties, Gastroesophageal reflux, Generalized hypotonia, F... ORPHA:79329
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Bowel incontinence... ORPHA:2704
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abdominal distention, Diarrhea, Weight loss, Hematoch... ORPHA:103910
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Acute Transverse Myelitis
Gastroparesis, Urinary incontinence, Paralytic ileus, Upper limb muscle weakness, Constipation, U... ORPHA:139417
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2070
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Jejunal Atresia
Jejunal atresia OMIM:243600
Young-Onset Parkinson Disease
Gastroparesis, Rigidity, Diarrhea, Constipation, Dystonia, Spasticity, Nausea ORPHA:2828
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Postnatal growth retardation, Pyloric stenosis, Nephrolithiasis, Feeding difficultie... OMIM:617219
Immunodeficiency 77
Gastroparesis OMIM:619223
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Short stature, Malabsorption, Hypotonia, Anteriorly placed anus... ORPHA:2315
Williams-Beuren Region Duplication Syndrome
Short stature, Small for gestational age, Unilateral renal agenesis, Hypotonia, Feeding difficult... OMIM:609757
Prune Belly Syndrome
Hydroureter, Xerostomia, Aplasia of the abdominal wall musculature, Congenital posterior urethral... OMIM:100100
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Proteinuria, Hypoperistalsis, Esophageal neoplasm, Chronic kidney... ORPHA:1018
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Abnormality of the gastrointestinal tract, Nausea and vomiting, Multicystic kidney dysplasia, Hyd... ORPHA:2241
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Short stature, Intestinal malrotation, Cleft palate, Feeding difficulties, Growth delay, Gastroes... ORPHA:457193
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bardet-Biedl Syndrome 19
Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Obesity, Hypogonadism, Hydron... OMIM:615996
Prader-Willi Syndrome
Gastroparesis, Short stature, Nasogastric tube feeding in infancy, Xerostomia, Hypotonia, Abdomin... ORPHA:739
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ... OMIM:619445
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Occipital Horn Syndrome
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Hypotonia,... ORPHA:198
Igg4-Related Aortitis
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, We... ORPHA:449400
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Alg6-Cdg
Hypotonia, Feeding difficulties, Macroglossia, Hypoalbuminemia, Protein-losing enteropathy, Failu... ORPHA:79320
Congenital Disorder Of Glycosylation, Type Ih
Abdominal distention, Diarrhea, Hypotonia, Protein-losing enteropathy, Vomiting, Decreased liver ... OMIM:608104
Mpi-Cdg
Gastrointestinal hemorrhage, Diarrhea, Protein-losing enteropathy, Vomiting, Decreased liver func... ORPHA:79319
Cardiospondylocarpofacial Syndrome
Gastroparesis, Short stature, Congenital diaphragmatic hernia, Hypotonia, Horseshoe kidney, Feedi... OMIM:157800
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Appendicular spasticity, Unilateral renal agenesis, High, narrow palate, Renal hypoplasia, Cleft ... OMIM:618494
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Microvillus Inclusion Disease
Villous atrophy, Abdominal distention, Diarrhea, Nephrocalcinosis, Abnormal small intestinal vill... ORPHA:2290
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Recurrent urinary tract infections, Hypoperistalsis, Abdominal distention, Fetal pyelectasis, Meg... OMIM:619365
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia/aplasia, Abno... ORPHA:2973
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Bowel incontinen... ORPHA:93930
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Gastroparesis, Short stature, Small for gestational age, Feeding difficulties in infancy, Hypoton... ORPHA:98754
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Abdominal distention, Megacystis, Hydronephrosis, Fetal megacystis, Neonatal death, ... OMIM:619362
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract... ORPHA:2547
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Gastroparesis, Short stature, Small for gestational age, Feeding difficulties in infancy, Hypoton... ORPHA:98793
Hypercholanemia, Familial 1
Fat malabsorption, Failure to thrive, Steatorrhea OMIM:607748
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Gastroparesis, Short stature, Small for gestational age, Feeding difficulties in infancy, Hypoton... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Gastroparesis, Short stature, Small for gestational age, Feeding difficulties in infancy, Hypoton... ORPHA:177901
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Intestinal malrotation, Megacystis, Hydronephrosis, Hepatic failure, Microcolon OMIM:619431
3C Syndrome
Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short stature, Feeding difficulties in ... ORPHA:7
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Urethral stricture, Renal duplication, Abdominal distention, Urinary bladder... ORPHA:79403
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Malabsorption, Abdominal pain, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Cleft palate, Feeding difficulties, Growth delay, High palate, Generalized hypotonia, Infantile m... ORPHA:488613
Tarp Syndrome
Failure to thrive, Hypotonia, Cleft palate, Tongue nodules, Horseshoe kidney, Glossoptosis, High ... OMIM:311900
Ritscher-Schinzel Syndrome 1
Hypospadias, Hypotonia, Cleft palate, Generalized hypotonia, Intrauterine growth retardation, Hyd... OMIM:220210
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis OMIM:617127
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphragmat... OMIM:614080
Cat Eye Syndrome
Anal stenosis, Renal agenesis, Intestinal malrotation, Short stature, Rectal fistula, Rectal atre... OMIM:115470
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Short stature, Elevated circulating C-reactive protein concentration, Feeding di... OMIM:616050
Netherton Syndrome
Short stature, Ectopic kidney, Malabsorption, Aminoaciduria, Hydronephrosis ORPHA:634
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Gastroparesis, Failure to thrive in infancy, Unilateral renal agenesis, Bilateral renal dysplasia... ORPHA:500150
Refractory Celiac Disease
Villous atrophy, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Weight loss, Prot... ORPHA:398063
Zellweger Syndrome
Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Severe muscular hypotonia, Short st... ORPHA:912
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Gastrointestinal dysmotility, Hypotonia, Growth delay, Infantile axial hy... OMIM:617798
Pancreatic Colipase Deficiency
Chronic diarrhea, Growth delay, Steatorrhea, Fat malabsorption, Exocrine pancreatic insufficiency ORPHA:309108
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Hypoplasia of penis, Recurrent urinary tract infections, Aganglionic megacol... ORPHA:847
Immunodeficiency 70
Celiac disease, Achalasia, Colitis OMIM:618969
Serkal Syndrome
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Congenital dia... ORPHA:139466
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Elevated circulating creatine kinase concentration, Sh... OMIM:301056
Bardet-Biedl Syndrome 12
Hydroureter, Hydrometrocolpos, Obesity, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hy... OMIM:615989
Trigonocephaly 1
High, narrow palate, Meckel diverticulum, Long penis OMIM:190440
Beta-Mercaptolactate Cysteine Disulfiduria
Short stature, Abnormality of the ureter, Hypotonia, Obesity, High palate ORPHA:1035
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Obesity, Hyposthenuria, Gastroesophageal reflux, Vesicouretera... OMIM:615926
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Short stature, Dysuria, Spastic gait, Spastic dysarthria, Upper limb mus... ORPHA:101000
Baller-Gerold Syndrome
Short stature, Failure to thrive in infancy, Malabsorption, Abnormality of the ureter, Cleft pala... ORPHA:1225
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Esophageal atresia, Tracheoesophageal fistula, Urethral atresia, Neonatal death, Enlarged kidney,... OMIM:314390
Fryns Syndrome
Multicystic kidney dysplasia, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Congeni... ORPHA:2059
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Episodic abd... ORPHA:100078
Microcephaly 26, Primary, Autosomal Dominant
Axial hypotonia, Short stature, Spastic tetraparesis, Protruding tongue, Feeding difficulties, Ch... OMIM:619179
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Failure to thrive, Duodenitis, Bloody diarrhea OMIM:614328
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hypotonia, Feeding difficulties, Growth delay, Esophagitis, Intraut... ORPHA:541423
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Marden-Walker Syndrome
Skeletal muscle atrophy, Epispadias, Intrauterine growth retardation, Bifid uvula, Abnormal penis... ORPHA:2461
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Short stature, Cleft palate, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multipl... OMIM:618265
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Infantile muscular hypotonia, Na... ORPHA:163961
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Bowel incontine... ORPHA:3027
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy, Achalasia, Severe short stature ORPHA:3239
Peutz-Jeghers Syndrome
Abdominal pain, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Bloody diarr... OMIM:175200
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Axial hypotonia, Failure to thrive, Spastic tetraparesis, Diarrhea, Flexion cont... OMIM:601110
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Jejunal atresia, Abnormality of the kidney, Short stature, ... ORPHA:391641
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Bowel incontinence, Pyloric... ORPHA:261494
Agammaglobulinemia 4, Autosomal Recessive
Protein-losing enteropathy OMIM:613502
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Elevated circulating creatine kinase concentration, Ilea... OMIM:615351
Joubert Syndrome 37
Short stature, Obesity, High palate, Generalized hypotonia, Micropenis, Hydronephrosis OMIM:619185
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Abdominal distention, Hypotonia, Cleft palate, High palate, Protein-losing enteropathy, Generaliz... OMIM:235255
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, F... ORPHA:261290
Cholestasis, Progressive Familial Intrahepatic, 2
Short stature, Diarrhea, Hepatocellular carcinoma, Fat malabsorption, Failure to thrive OMIM:601847
Penoscrotal Transposition
Hypospadias, Renal agenesis, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal... ORPHA:2842
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Short stature, Feeding difficulties in infancy, High, narrow p... ORPHA:96169
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Abdominal distention, Abnormal renal morphology, High palate, Prote... ORPHA:1655
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Congenital Bile Acid Synthesis Defect Type 2
Dark urine, Failure to thrive, Postnatal growth retardation, Renal cyst, Steatorrhea, Fat malabso... ORPHA:79303
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Oculoskeletodental Syndrome
Renal agenesis, Short stature, Small for gestational age, Elbow flexion contracture, Hypercalciur... OMIM:618440
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Renal hypoplasia, Hypotonia, Feeding difficulties, Nephrocalcinosis, Growth delay, Am... OMIM:617913
Trichohepatoenteric Syndrome 2
Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Bloody diarrhea, Colitis,... OMIM:614602
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ... OMIM:608836
Recombinant Chromosome 8 Syndrome
Postnatal growth retardation, Hypotonia, Growth delay, Hypertonia, Generalized hypotonia, Camptod... OMIM:179613
Metachromatic Leukodystrophy
Dystonia, Urinary incontinence, Bowel incontinence, Abnormal stomach morphology, Neoplasm of the ... ORPHA:512
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Growth delay, Dysphagia, Hydronephrosis OMIM:222300
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Proteinuria, Abdom... OMIM:619377
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft pal... OMIM:270420
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Celiac disease, Abnormal intestine morphology, Delayed puberty, Achalasia, Exocrin... OMIM:615952
Stromme Syndrome
Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Cleft palate, Myopathy, Stil... OMIM:243605
Zaki Syndrome
Renal agenesis, Short stature, Poor appetite, Congenital diaphragmatic hernia, Spastic gait, Hypo... OMIM:619648
Chylomicron Retention Disease
Abdominal distention, Diarrhea, EMG: myopathic abnormalities, Myopathy, Growth delay, Vomiting, S... ORPHA:71
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Matthew-Wood Syndrome
Congenital diaphragmatic hernia, Hypotonia, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis... ORPHA:2470
Tetrasomy 15Q26
Hypotonia, Horseshoe kidney, High palate, Camptodactyly, Intrauterine growth retardation, Hydrone... OMIM:614846
Maternal Uniparental Disomy Of Chromosome 4
Neurogenic bladder, Calf muscle pseudohypertrophy, Short stature, Elevated circulating creatine k... ORPHA:96180
Congenital Short Bowel Syndrome
Intestinal hypoplasia, Displacement of the urethral meatus, Short stature, Intestinal malrotation ORPHA:2301
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Intestinal obstruction, Jejunal atresia, Intestinal malrotation, Ileal atresia, Rectal atresia, E... OMIM:243150
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Short stature, Elevated circulating creatine kinase ... OMIM:608779
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Tracheoesophageal fistula, Ureteral agenesis, Abnormality of... ORPHA:2437
8P23.1 Duplication Syndrome
Hydronephrosis, Pulmonic stenosis ORPHA:251076
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Small for gestational age, Abnormality of the ureter, Congenital pos... OMIM:180860
Suleiman-El-Hattab Syndrome
Feeding difficulties, High palate, Generalized hypotonia, Failure to thrive, Hydronephrosis OMIM:618950
Martinez-Frias Syndrome
Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Hypospadias, Tracheoesophageal fi... OMIM:601346
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, narrow palate, Rectal... ORPHA:79076
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
X-Linked Intellectual Disability Due To Gria3 Mutations
Axial hypotonia, Facial hypotonia, Short stature, Narrow palate, Spasticity, Micropenis, Abnormal... ORPHA:364028
9Q21.13 Microdeletion Syndrome
Postnatal growth retardation, Gastrointestinal dysmotility, Abnormal tongue morphology, Hydroneph... ORPHA:531151
Cog8-Cdg
Skeletal muscle atrophy, Failure to thrive, Protein-losing enteropathy, Infantile muscular hypotonia ORPHA:95428
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Leg dystonia, Cleft palate, P... OMIM:607371
Tetraploidy
Intrauterine growth retardation, Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia ORPHA:3305
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Hypotonia, Generalized hypotonia, Failure... OMIM:619218
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Congenital diaphr... ORPHA:887
Congenital Alveolar Capillary Dysplasia
Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv... ORPHA:210122
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Short stature, Renal hyp... ORPHA:2473
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hypotonia, Cleft palate, Furrowed tongue, Gastroesophageal reflux, Constipation, Hig... OMIM:616449
Kury-Isidor Syndrome
Hypotonia, Feeding difficulties, Growth delay, High palate, Hydronephrosis OMIM:619762
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Obesity, Diarrhea, Malabsorption OMIM:600955
Trisomy 13
High, narrow palate, Abnormality of the ureter, Hypotonia, Cleft palate, Multiple renal cysts, Di... ORPHA:3378
Achalasia-Microcephaly Syndrome
Growth delay, Achalasia ORPHA:929
Triple A Syndrome
Short stature, Hypotonia, Abnormality of the calf musculature, Abnormality of the hypothenar emin... ORPHA:869
Pfeiffer Syndrome Type 3
Intestinal malrotation, Cleft palate, Horseshoe kidney, High palate, Vesicoureteral reflux, Hydro... ORPHA:93260
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Mitchell-Riley Syndrome
Jejunal atresia, Intestinal malrotation, Malabsorption, Diarrhea, Anteriorly placed anus, Acholic... OMIM:615710
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Short stature, Aplasia/Hypoplasia of the tongue, Facial palsy, Aplasia o... ORPHA:1358
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hypotonia, Hydronephrosis, Feeding difficulties OMIM:619797
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Intestinal duplication, Renal hypoplasia/aplasia ORPHA:1756
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hydronephrosis, Gonadal dysgenesis, Hypo... OMIM:154230
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Renal hypoplasia, Duodenal atresia OMIM:617784
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Poor appetite, Xanthi... ORPHA:3467
22Q11.2 Duplication Syndrome
Urethral stenosis, Hypotonia, Cleft palate, Growth delay, Displacement of the urethral meatus, Hy... ORPHA:1727
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Cleft ... ORPHA:107
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Malrotation of small bowel, Functional abnormality of the bladder, Nephrol... ORPHA:2953
6P22 Microdeletion Syndrome
Hypotonia, Hydronephrosis ORPHA:251046
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Diarrhea, Acholic stools, Steatorrhea, Fat malabsorption, Hepatic failure OMIM:607765
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Postnatal growth retardation, High, narrow palate, Hypotonia, Spasticity, Feeding ... OMIM:612513
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Flexion contracture of finger, Failure to thrive, Hypospadias, Small for gestational age, Unilate... ORPHA:464311
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Short stature, Rhizomelia, Failure to thrive in infancy, Feedin... OMIM:611209
Cholestasis, Progressive Familial Intrahepatic, 1
Fat malabsorption, Failure to thrive, Short stature, Diarrhea OMIM:211600
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Mild postnatal growth retardation, Ectopic kidney, Rectal prolapse, Narrow palate, Horseshoe kidn... OMIM:235510
Smith-Magenis Syndrome
Short stature, Failure to thrive in infancy, Renal hypoplasia/aplasia, Feeding difficulties in in... ORPHA:819
Diabetic Embryopathy
Ureteral duplication, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:1926
Distal Triplication 15Q
Abnormality of the kidney, Large for gestational age, Flexion contracture, Dilatation of the rena... ORPHA:314588
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fi... ORPHA:105
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Chronic constipation, Hydronephrosis, Generalized hypotonia OMIM:618060
Weyers Ulnar Ray/Oligodactyly Syndrome
High palate, Hydronephrosis, Cleft palate OMIM:602418
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hypospadias, Renal agenesis, Protruding tongue, Postnatal growth retardation, Hypotonia, Spastici... OMIM:301040
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Trisomy 1Q
Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hernia, Cleft pal... ORPHA:261344
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Hypotonia, Tracheoesophageal fistula, Rectovaginal fistula, Intr... ORPHA:1780
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Renal cyst, Gastrointestinal inflammation, Aplasia/Hypoplasia of the bladder,... ORPHA:79404
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Achalasia ORPHA:2400
Scleromyxedema
Abnormality of the gastrointestinal tract, Abnormality of the kidney, Elevated circulating creati... ORPHA:167635
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Ileal ulcer OMIM:616744
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Recurrent urinary tract infections, Malabsorption, Protracted diarrhea, Colitis,... OMIM:209920
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Gastrointestinal ... ORPHA:453499
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Short stature, Small for gestational age, Feeding difficultie... OMIM:610443
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Growth delay, Intrauterine growth retardation... ORPHA:2083
Congenital Disorder Of Glycosylation, Type It
Short stature, Elevated circulating creatine kinase concentration, Chronic diarrhea, Rhabdomyolys... OMIM:614921
Dyrk1A-Related Intellectual Disability Syndrome
Failure to thrive, Multiple joint contractures, Hypospadias, Short stature, Unilateral renal agen... ORPHA:464306
Joubert Syndrome 35
Multicystic kidney dysplasia, Recurrent urinary tract infections, Renal fibrosis, Generalized hyp... OMIM:618161
Distal Duplication 6P
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... ORPHA:1745
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Protein-losing enteropathy, Feeding difficulties OMIM:618154
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Aganglionic megacolon, Hypospadias, Epispadias, Abnormality of the ure... ORPHA:3339
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Short stature, Renal hypoplasia, Renal cyst, Feeding difficulties, Hypotoni... OMIM:618460
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Glomerulonephritis, Chronic diarrhea, Ileus, Failure to thrive OMIM:304790
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Genitopatellar Syndrome
Hip contracture, Multicystic kidney dysplasia, Short stature, Knee flexion contracture, Feeding d... ORPHA:85201
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy, Achalasia, Short stature OMIM:221350
Hardikar Syndrome
Vomiting, Vesicoureteral reflux, Bladder exstrophy, Short stature, Cleft soft palate, Abdominal p... OMIM:301068
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Morgagni diaphragmatic hernia, Pyloric stenosis, Rectal prol... OMIM:613177
Micro Syndrome
Hypoplasia of penis, Short stature, Hypotonia, Abnormal localization of kidney, High palate, Dela... ORPHA:2510
Esophageal Atresia
Feeding difficulties in infancy, Gastrointestinal dysmotility, Anorectal anomaly, Hypertonia, Gas... ORPHA:1199
Congenital Contractural Arachnodactyly
Intestinal malrotation, Camptodactyly of finger, Flexion contracture, Tracheoesophageal fistula, ... ORPHA:115
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Multicystic kidney dysplasia, Facial palsy, Camptodactyly of finger, Hypot... ORPHA:261349
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Short stature, Cryptorchidism, Abnormality of the ureter, Obesity, Hypogonadism ORPHA:3409
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys... ORPHA:2237
White-Kernohan Syndrome
Hydroureter, Hypotonia, Horseshoe kidney, Obesity, Anteriorly placed anus, Gastroesophageal reflu... OMIM:619426
Duane-Radial Ray Syndrome
Renal malrotation, Anal stenosis, Aganglionic megacolon, Renal agenesis, Facial palsy, Renal hypo... OMIM:607323
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Anal stenosis, Hydroureter, Severe muscular hypotonia, Elevated circulating alpha-fetoprotein con... ORPHA:280633
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Small for gestational age, Flexion contracture, Cleft palate, Intrauterine growth re... OMIM:616897
Penile Agenesis
Urethral atresia, male, Hydroureter, Rectal fistula, Fetal pyelectasis, Anorectal anomaly, Bilate... ORPHA:49
Hyperphosphatasia-Intellectual Disability Syndrome
Aganglionic megacolon, Anteriorly placed anus, Hydronephrosis, Growth delay, High palate, Infanti... ORPHA:247262
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Short stature, Small for gestational age, Rectovaginal fi... OMIM:300707
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hypoplastic labia majora, Hydronephrosis OMIM:619217
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Protruding tongue, High, narrow palate, Hypotonia, Feeding difficulties, Macroglossi... OMIM:214100
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Intestinal malrotation, Epispadias, Ve... OMIM:258040
Toluene Embryopathy
Cryptorchidism, Short stature, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Diastasis recti, Postnatal growth retardation, Flexion contracture, Hypotonia, Feeding difficulti... ORPHA:254528
Fryns Syndrome
Ureteral duplication, Aganglionic megacolon, Intestinal malrotation, Hypospadias, Renal agenesis,... OMIM:229850
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular epithelial nec... ORPHA:49041
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Mednik Syndrome
Jejunal atresia, Diarrhea, Hypotonia, Growth delay, Neonatal death, Volvulus, Microcolon OMIM:609313
Diarrhea 10, Protein-Losing Enteropathy Type
Polyuria, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy, Hyp... OMIM:618183
Dextrocardia
Meckel diverticulum, Abnormality of the ureter, Intestinal malrotation, Abnormal renal morphology ORPHA:1666
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Congenital Myopathy 17
Failure to thrive in infancy, Renal hypoplasia, Cleft palate, Myopathy, Distal arthrogryposis, Hi... OMIM:618975
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Hydronephrosis OMIM:613735
Castleman Disease
Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Renal ins... ORPHA:160
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Short stature, Pyloric stenosis, Feeding difficulties, Hypertonia, Intrauterin... OMIM:616395
Plasminogen Deficiency, Type I
Duodenal ulcer, Decreased level of plasminogen, Nephrolithiasis, Generalized hypotonia, Nephritis OMIM:217090
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Chronic diarrhea, Growth delay, Vomiting, Tube fee... OMIM:619510
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Axial hypotonia, Hypotonia, Obesity, Feeding difficulties, Anteriorly placed anus, High palate, V... OMIM:618653
Trisomy 20P
Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of the ureter, Hypot... ORPHA:261318
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Abdominal pain, Chronic diarrhea, Functional ab... ORPHA:90362
Mesomelia-Synostoses Syndrome
Aplasia/Hypoplasia of the uvula, High, narrow palate, Short stature, Hydronephrosis ORPHA:2496
Mosaic Trisomy 9
Hypoplasia of penis, Intestinal malrotation, Camptodactyly of finger, Cleft palate, Horseshoe kid... ORPHA:99776
Intellectual Disability, Buenos-Aires Type
Spastic gait, High palate, Hydronephrosis, Short stature ORPHA:3079
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Intestinal obstruction, Nausea and vomiting, Uretera... ORPHA:900
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short stature, Cleft palate, Feeding difficulties, Hydronephrosis, Bifid uvula, Generalized hypot... OMIM:300968
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Recurrent urinary tract infections, Flexion contracture of finger, Urina... OMIM:609033
Tarp Syndrome
Failure to thrive, Cleft palate, Horseshoe kidney, Glossoptosis, Generalized hypotonia, Abnormal ... ORPHA:2886
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Renal h... OMIM:146510
Trisomy 18
Short stature, Camptodactyly of finger, Abnormality of the upper urinary tract, Congenital diaphr... ORPHA:3380
Developmental Delay, Language Impairment, And Ocular Abnormalities
Short stature, Hydronephrosis OMIM:620141
Distal Deletion 12Q
Short stature, Failure to thrive in infancy, Ectopic kidney, High, narrow palate, Esophageal atre... ORPHA:96149
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Short stature, Macroglossia, Dysphagia, Achalasia ORPHA:79107
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Failure to thrive, Fat malabsorption, Hepatic failure OMIM:214950
Alg9-Cdg
Hypoplasia of the bladder, Villous atrophy, Torticollis, Lower limb spasticity, Ureteral hypoplas... ORPHA:79328
Mirage Syndrome
Recurrent urinary tract infections, Hypospadias, Short stature, Esophageal stricture, Chronic dia... OMIM:617053
Focal Dermal Hypoplasia
Acute hepatic failure, Multicystic kidney dysplasia, Diastasis recti, Congenital diaphragmatic he... ORPHA:2092
Au-Kline Syndrome
Failure to thrive, Chronic kidney disease, Dilatation of the renal pelvis, Hypotonia, Cleft palat... OMIM:616580
Immunodeficiency 31C
Skeletal muscle atrophy, Villous atrophy, Short stature, Diarrhea, Weight loss, Gastrointestinal ... OMIM:614162
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Renal agenesis, Short stature, Unilateral renal agenesis, Esophageal atresia, Submucous cleft har... OMIM:619227
Smith-Lemli-Opitz Syndrome
Gastrointestinal dysmotility, Renal cyst, Hypertonia, Gastroesophageal reflux, Vomiting, Generali... OMIM:270400
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar... ORPHA:220460
Gabriele-De Vries Syndrome
Facial hypotonia, Hypotonia, Feeding difficulties, Distal arthrogryposis, High palate, Dystonia, ... OMIM:617557
Cardiofaciocutaneous Syndrome 1
Short stature, Feeding difficulties in infancy, Submucous cleft hard palate, Hypotonia, Hypertoni... OMIM:115150
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi... ORPHA:93929
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Small for gestational age, Postnatal growth retardation, Hypotonia,... OMIM:617093
Dubowitz Syndrome
Anal stenosis, Hypospadias, Short stature, Malabsorption, Postnatal growth retardation, Rectal pr... ORPHA:235
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia, Short stature ORPHA:436174
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Short stature, Renal hypoplasia/aplasia, Abnormality of the ureter, Polycystic ovaries, Gonadal d... ORPHA:1770
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Neurogenic bladder, Dystonia, Hypotonia, Cleft palate, Feeding difficulties, Growt... OMIM:616973
Congenital Disorder Of Glycosylation, Type Ia
Villous atrophy, Proteinuria, Feeding difficulties in infancy, Diarrhea, Flexion contracture, Hyp... OMIM:212065
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short stature, High palate, Intrauterine growth ret... ORPHA:1297
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Intestinal malrotation, Diastasis recti, Esophageal atresia, Dilatation... OMIM:265380
Mosaic Variegated Aneuploidy Syndrome 1
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short stature, Small for gestational a... OMIM:257300
Trisomy 8P
Multiple joint contractures, Fetal pyelectasis, Malrotation of small bowel, Cleft palate, Nephroc... ORPHA:264450
Nijmegen Breakage Syndrome
Anal stenosis, Recurrent urinary tract infections, Short stature, Rhabdomyosarcoma, Diarrhea, Cle... OMIM:251260
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Failure to thrive, Small for gestational age, Anorexia, Malabsorption, Chronic d... OMIM:557000
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Mckusick-Kaufman Syndrome
Hydroureter, Aganglionic megacolon, Rectovaginal fistula, Polycystic kidney dysplasia, Vesicovagi... OMIM:236700
Microphthalmia, Syndromic 9
Renal malrotation, Severe short stature, Short stature, Cryptorchidism, Renal hypoplasia, Horsesh... OMIM:601186
Jacobsen Syndrome
Multicystic kidney dysplasia, Short stature, Intestinal malrotation, Feeding difficulties in infa... ORPHA:2308
American Trypanosomiasis
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia ORPHA:3386
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias, Short stature ORPHA:2522
Scedosporiosis
Abnormal renal morphology, Abnormal jejunum morphology ORPHA:449280
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Intestinal atresia ORPHA:3405
Intellectual Disability-Alacrima-Achalasia Syndrome
Enuresis, Achalasia, Dysphagia ORPHA:289483
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Intestinal malrotation, Diastasis recti, Hiatus hernia, Hypotonia, Cleft palate, Nephrotic syndro... OMIM:601776
Fanconi Anemia, Complementation Group F
Failure to thrive, Short stature, Renal hypoplasia, Microphallus, Vesicoureteral reflux, Intraute... OMIM:603467
1Q21.1 Microdeletion Syndrome
Short stature, Hypotonia, High palate, Vesicoureteral reflux, Intrauterine growth retardation, Fa... ORPHA:250989
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, High, narrow palate, Spastic tetraplegia, Contractures of the large jo... ORPHA:96092
Fanconi Anemia, Complementation Group B
Renal agenesis, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth ... OMIM:300514
X-Linked Dominant Chondrodysplasia Punctata
Short stature, Flexion contracture, Severe postnatal growth retardation, High palate, Hydronephrosis ORPHA:35173
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Hig... ORPHA:314585
Opitz Gbbb Syndrome
Hypospadias, Short stature, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Tra... ORPHA:2745
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Esoph... OMIM:192350
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... ORPHA:2322
Tetrasomy 18P
Achalasia ORPHA:3307
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, High, narrow palate, Hypotonia, Cleft palate, Furrowed tongue, Constipation, Male ur... ORPHA:464738
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Facial hypotonia, Small for gestational age, Oral-pharyngeal dyspha... ORPHA:506358
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Colonic Atresia
Abdominal distention, Peptic ulcer, Colonic atresia, Duodenal stenosis ORPHA:1198
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Multicystic kidney dysplasia, Recurrent urinary tract infections, Shor... OMIM:614527
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Ureteral obstruction, Hiatus hernia, Chronic d... OMIM:304150
Carpenter Syndrome 1
Hydroureter, Short stature, Obesity, High palate, Camptodactyly, Joint contracture of the hand, H... OMIM:201000
Noonan Syndrome 4
Ureteral duplication, Short stature, Large for gestational age, Cryptorchidism, Hydronephrosis OMIM:610733
Multisystemic Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis OMIM:613834
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Esophageal stenosis, Hypotonia, Spasticity, Feeding difficulties, Generalized hypotonia, Dysphagi... OMIM:615510
Nephrogenic Diabetes Insipidus
Nausea and vomiting, Renal insufficiency, Hydroureter, Short stature, Anorexia, Functional abnorm... ORPHA:223
Pelvis-Shoulder Dysplasia
Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Cleft palate, Neona... ORPHA:2839
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Urinary incontinence, Hypotonia, Feeding difficulties, Chronic cons... OMIM:619482
Okamoto Syndrome
Exaggerated median tongue furrow, Anal stenosis, Intestinal malrotation, Urinary incontinence, Cl... ORPHA:2729
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Anuria, Abdominal pain, Intestinal perforation, Rectal prolapse, Diarrhea, Colonic stenosis, Peri... ORPHA:90038
Congenital Tracheal Stenosis
Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag... ORPHA:141127
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Isolated Biliary Atresia
Small for gestational age, Dark yellow urine, Acholic stools, Decreased liver function, Severe fa... ORPHA:30391
Fraser Syndrome 2
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Abdominal distention, Rectal a... OMIM:617666
Familial Adenomatous Polyposis 4
Duodenal polyposis, Adenomatous colonic polyposis, Renal cyst, Gastric adenocarcinoma OMIM:617100
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Short stature, In... OMIM:147920
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal age... OMIM:617914
Mosaic Trisomy 16
Abnormality of the gastrointestinal tract, Hypospadias, Small for gestational age, Nasogastric tu... ORPHA:1708
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Hydroureter, Interphalangeal joint contracture of fing... OMIM:305620
Mosaic Trisomy 8
Short stature, Camptodactyly of finger, Cleft palate, High palate, Vesicoureteral reflux, Arthrog... ORPHA:96061
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Hypertonia... ORPHA:818
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Anal stenosis, Hydroureter, Absence of Stensen duc... OMIM:604292
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Reduced renal corticomedullary differentiation, ... ORPHA:731
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Hydronephrosis OMIM:607598
Duodenal Ulcer Due To Antral G-Cell Hyperfunction
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126840
Microform Holoprosencephaly
Hypoplasia of penis, Renal agenesis, Short stature, Cleft palate, Intrauterine growth retardation... ORPHA:280200
Aredyld Syndrome
Cachexia, Abnormality of the ureter, Short stature, Intrauterine growth retardation ORPHA:1133
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Short stature, Renal hypoplasia/aplasia, Cryptorchidism, Hydronephrosis ORPHA:568
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Short stature, Nephrolit... ORPHA:353281
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Short stature, Failure to thrive in infancy, Feeding d... ORPHA:1340
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Short statu... ORPHA:1606
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy, Bifid cl... OMIM:600057
Abetalipoproteinemia
Fat malabsorption OMIM:200100
Developmental Delay With Or Without Dysmorphic Facies And Autism
Short stature, Congenital diaphragmatic hernia, Renal hypoplasia, Renal cyst, Cleft palate, Feedi... OMIM:618454
Familial Visceral Myopathy
Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Abdominal distention, Aplasia/Hypopl... ORPHA:2604
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Axial hypotonia, Dystonia, Intestinal malrotation, Hypotonia,... OMIM:616268
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Short stature, Small for gestational age, Celiac disease, Dilatation... ORPHA:2044
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Axial hypotonia, Limb joint contracture, Intrauterine growth retardation, Hydronephrosis, Limb hy... OMIM:620327
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Increased urinary cortisol level, Intestinal obstruction, Duodenal u... ORPHA:913
Autosomal Recessive Spondylocostal Dysostosis
Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Short stature, Abnormality... ORPHA:2311
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Mecke... ORPHA:2847
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Short stature, Duodenal atresia ORPHA:3004
Monosomy 22Q13.3
Nausea and vomiting, Renal dysplasia, Neonatal hypotonia, Obesity, Feeding difficulties, Gastroes... ORPHA:48652
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Ileal atresia, Abdominal distention, Peritonitis, Megacystis, Pyelonephritis, Fetal megac... OMIM:619351
Teebi-Shaltout Syndrome
Ureteral stenosis, Short stature, High, narrow palate, Cleft palate, Horseshoe kidney, Camptodact... OMIM:272950
Duodenal Atresia
Duodenal atresia OMIM:223400
Miller-Dieker Lissencephaly Syndrome
Failure to thrive, Cleft palate, Duodenal atresia, Joint contracture of the hand, Infantile muscu... OMIM:247200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Dystonia, Short stature, Elevated circulating creatine kinase concentration, Hypotonia, Feeding d... OMIM:615356
Acrocephalopolydactylous Dysplasia
Hypoplastic colon, Hypoplasia of the small intestine, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Renal insufficiency, Neurogenic bladder, Hydroureter, Mild postnatal gro... ORPHA:90324
Netherton Syndrome
Villous atrophy, Failure to thrive, Recurrent infection of the gastrointestinal tract, Intestinal... OMIM:256500
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short stature, Cleft palate, Feeding difficulties, Gastroesophageal reflux, Achalasia OMIM:600987
Exstrophy-Epispadias Complex
Abnormality of the gastrointestinal tract, Anal stenosis, Bladder fistula, Renal insufficiency, U... ORPHA:322
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention, Urethral atresia, Hydronephrosis, Anal atresia OMIM:271520
Meier-Gorlin Syndrome 7
Urethral stricture, Anal stenosis, Hypospadias, Short stature, Cleft palate, Duodenal stenosis, A... OMIM:617063
7Q11.23 Microduplication Syndrome
Hypospadias, Short stature, Unilateral renal agenesis, Congenital diaphragmatic hernia, Obesity, ... ORPHA:96121
Genitopatellar Syndrome
Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Malrotation of small bowel, Hypoton... OMIM:606170
Duodenal Ulcer, Hyperpepsinogenemic I
Hyperpepsinogenemia I, Duodenal ulcer OMIM:126850
Schinzel-Giedion Syndrome
Aganglionic megacolon, Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Neph... ORPHA:798
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, High palate, Hydronephrosis OMIM:104350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Renal dysplasia, Duplicated collecting system, Hydroureter, Absence of Stensen duct, Renal agenes... OMIM:129900
Fabry Disease
Nausea and vomiting, Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Anorexia, A... ORPHA:324
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypospadias, Short stature, Spastic tetraparesis, Hypotonia, Renal cyst, Furrowed tongue, Feeding... OMIM:616975
Congenital Bile Acid Synthesis Defect Type 3
Fat malabsorption, Hepatic failure ORPHA:79302
Apert Syndrome
Pyloric stenosis, Esophageal atresia, Narrow palate, Cleft palate, Hydronephrosis, Rhizomelic arm... OMIM:101200
Raine Syndrome
Hydroureter, Short stature, Protruding tongue, Cleft palate, High palate, Neonatal death, Arthrog... OMIM:259775
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Intestinal malrotation, Duodenal atresia OMIM:619608
Melnick-Needles Syndrome
Vesicoureteral reflux, Short stature, Hydronephrosis ORPHA:2484
Liver Disease, Severe Congenital
Chronic gastritis, Aminoaciduria, Protein-losing enteropathy, Vomiting, Hypospadias, Exocrine pan... OMIM:619991
Diphallia
Abnormality of the gastrointestinal tract, Ureteral duplication, Renal malrotation, Rectoperineal... ORPHA:227
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Crypt... ORPHA:261265
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Dystonia, Severe short stature, Pyloric stenosis, Pyelonephri... ORPHA:90349
Mosaic Variegated Aneuploidy Syndrome
Intestinal polyposis, Multicystic kidney dysplasia, Short stature, Rhabdomyosarcoma, Hypotonia, C... ORPHA:1052
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Short stature, Diarrhea, Esophageal carcinoma, Functional abnormality of the bla... ORPHA:391487
Trichohepatoenteric Syndrome 1
Villous atrophy, Failure to thrive, Hypospadias, Short stature, Small for gestational age, Galact... OMIM:222470
Otopalatodigital Syndrome Type 2
Hypospadias, Camptodactyly of finger, Ureteral obstruction, Cleft palate, Glossoptosis, Failure t... ORPHA:90652
Syndromic Diarrhea
Villous atrophy, Gastritis, Short stature, Small for gestational age, Renal hypoplasia, Bloody di... ORPHA:84064
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unilateral renal agenesis, Ank... ORPHA:468631
Coffin-Siris Syndrome 1
Hydroureter, Duodenal ulcer, Intestinal malrotation, Hypospadias, Ectopic kidney, Feeding difficu... OMIM:135900
Charge Syndrome
Short stature, Facial palsy, Abnormal soft palate morphology, Feeding difficulties in infancy, Po... ORPHA:138
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hamartoma of tongue, Cleft palate... ORPHA:2750
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Moderate albuminuria, Hyd... OMIM:619269
Cousin Syndrome
Rhizomelia, Disproportionate short stature, Cleft palate, Camptodactyly, Microglossia, Joint cont... OMIM:260660
Frontometaphyseal Dysplasia
Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Ureteral obstruction,... ORPHA:1826
Zygomycosis
Gastrointestinal hemorrhage, Renal insufficiency, Gastritis, Abdominal pain, Hematemesis, Diarrhe... ORPHA:73263
Tremor-Nystagmus-Duodenal Ulcer Syndrome
Duodenal ulcer ORPHA:3350
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Perianal abscess, Urachus fistula, Cleft palate, Growth delay... OMIM:612541
Achalasia, Familial Esophageal
Achalasia, Xerostomia OMIM:200400
Mosaic Variegated Aneuploidy Syndrome 2
Rhizomelia, Short stature, Small for gestational age, Hypotonia, Growth delay, Severe intrauterin... OMIM:614114
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis OMIM:609465
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Intestinal malrotation, Abnormality of the kidne... ORPHA:353277
Campomelic Dysplasia
Short stature, Hydronephrosis, Cleft palate ORPHA:140
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Chronic diarrhea, Growth delay, Inflammation of the large in... OMIM:614700
Eec Syndrome
Hypospadias, Short stature, Renal hypoplasia/aplasia, Xerostomia, Cleft palate, Urethral atresia,... ORPHA:1896
Alagille Syndrome
Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Nephrotic syndrome, Delayed ... ORPHA:52
Diets-Jongmans Syndrome
Hypospadias, Short stature, Congenital diaphragmatic hernia, Feeding difficulties in infancy, Gen... OMIM:618846
Feingold Syndrome
Esophageal atresia, Short stature, Duodenal atresia ORPHA:1305
Johanson-Blizzard Syndrome
Colonic diverticula, Failure to thrive, Hypospadias, Short stature, Urethrovaginal fistula, Malab... OMIM:243800
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Grade III v... OMIM:619522
Duodenal Atresia
Duodenal atresia ORPHA:1203
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Opisthotonus, Macroglo... OMIM:269150
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication... DECIPHER:81
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Intestinal malrotation, Ureteral atresia, Stage 5 chronic kidney disease, Po... OMIM:208540
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Feeding difficulties, Growth delay, Failure ... ORPHA:2995
Chondrodysplasia Punctata 2, X-Linked Dominant
Postnatal growth retardation, Failure to thrive, Rhizomelia, Hydronephrosis OMIM:302960
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Generalized hypotonia, Camptodactyly, Hydronephrosis OMIM:616737
Tremor, Nystagmus, And Duodenal Ulcer
Duodenal ulcer OMIM:190310
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Pyloric stenosis, Contracture of the distal interphalangeal joint o... ORPHA:83617
Peters Plus Syndrome
Intestinal fistula, Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short statur... ORPHA:709
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Autosomal Dominant Cutis Laxa
Unilateral renal agenesis, Postnatal growth retardation, Hypotonia, Feeding difficulties, Pyelone... ORPHA:90348
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Cryptorchidism, Ureteropelvic junc... ORPHA:444072
3Mc Syndrome 1
Diastasis recti, Postnatal growth retardation, Cleft palate, Growth delay, Hydronephrosis OMIM:257920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Chronic diarrhea, Failure to thrive in infancy OMIM:606367
Whim Syndrome
Abnormal small intestine morphology, Parotitis ORPHA:51636
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Axial hypotonia, Renal agenesis, Intestinal malrotation, Camptodactyly... OMIM:249000
Craniofacioskeletal Syndrome
Short stature, Hypospadias, Cleft palate, Intrauterine growth retardation, Hydronephrosis OMIM:300712
Fanconi Anemia
High palate, Hypospadias, Short stature, Aplasia/Hypoplasia of the uvula, Meckel diverticulum, Re... ORPHA:84
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Hypoplasia of penis, Camptodactyly of finger, Ectopic anus, Disprop... ORPHA:1507
Knobloch Syndrome 1
Duplicated collecting system, Pyloric stenosis, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Melnick-Needles Syndrome
Ureteral stenosis, Cleft palate, Stillbirth, Failure to thrive, Hydronephrosis OMIM:309350
Ellis Van Creveld Syndrome
Failure to thrive, Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia,... ORPHA:289
Central Hypoventilation Syndrome, Congenital, 1
Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Feeding difficul... OMIM:209880
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Pelvic kidney, Hydronephrosis OMIM:613001
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Short stature, Elevated circulating creatine kinase con... ORPHA:800
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Holoprosencephaly 3
Hydronephrosis, Bifid uvula, Cleft palate OMIM:142945
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Esophageal atresia, Abdominal distention, Renal hypo... ORPHA:93271
Osteopetrosis With Renal Tubular Acidosis
Short stature, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosi... ORPHA:2785
Rubinstein-Taybi Syndrome 1
Hypospadias, Short stature, Small for gestational age, Feeding difficulties in infancy, High, nar... OMIM:180849
Erdheim-Chester Disease
Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Weight loss, Hydronephrosis ORPHA:35687
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Aganglionic megacolon, Abnormality of the kidney, Abnormality of the upper urinary t... ORPHA:2273
Abetalipoproteinemia
Failure to thrive, Chronic diarrhea, Myopathy, Vomiting, Hypoalbuminemia, Abnormal circulating ap... ORPHA:14
Viss Syndrome
Chronic gastritis, High, narrow palate, High palate, Gastroesophageal reflux, Broad uvula, Bifid ... OMIM:619472
Combined Immunodeficiency-Enteropathy Spectrum
Intestinal malrotation, Jejunoileal ulceration, Abdominal distention, Gastrointestinal atresia, B... ORPHA:436252
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Large for gestational age, Hypotonia, Cleft palate, Camptodactyly, ... OMIM:280000
Townes-Brocks Syndrome 1
Anal stenosis, Rectoperineal fistula, Multicystic kidney dysplasia, Hypospadias, Renal insufficie... OMIM:107480
Robinow Syndrome, Autosomal Recessive 1
Short stature, Nephrolithiasis, Nephrocalcinosis, Macroglossia, Micropenis, Bifid tongue, Hydrone... OMIM:268310
Hypoplasminogenemia
Decreased level of plasminogen, Duodenal ulcer, Nephrolithiasis ORPHA:722
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Small for gestational age, Intestinal malrotation, Congenital diaphragmatic... ORPHA:2255
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... ORPHA:2636
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Failure to thrive, Short stature, Abdominal distention, Increase... OMIM:619534
Fraser Syndrome 1
Abnormal small intestine morphology, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Cle... OMIM:219000
Menke-Hennekam Syndrome 2
Chronic constipation, Duodenal ulcer OMIM:618333
Floating-Harbor Syndrome
Hypospadias, Short stature, Celiac disease, Glandular hypospadias, Nephrocalcinosis, Congenital p... OMIM:136140
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Short stature, Hypospadias, Cleft palate, Micropenis, Hydronephrosis ORPHA:163979
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Dystonia, Short stature, Nephrolithiasis, Feeding difficulties, Constipation, Gastroesophageal re... ORPHA:438213
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hypospadias, Intestinal malrotation, Facial hypotonia, Congenit... OMIM:312870
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Bilateral cleft lip and palate ORPHA:3253
Focal Dermal Hypoplasia
Ureteral duplication, Short stature, Intestinal malrotation, Congenital diaphragmatic hernia, Hia... OMIM:305600
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hip contracture, Aganglionic megacolon, Hypospadias, A... ORPHA:821
Robinow Syndrome
Multicystic kidney dysplasia, Small scrotum, Short stature, External genital hypoplasia, Small fo... ORPHA:97360
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Short stature, Shoulder muscle hypoplasia, Dilatation of... OMIM:274000
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Recurrent urinary tract infections, Neonatal hypotonia, Hypospadias, Small f... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Recurrent urinary tract infections, Neonatal hypotonia, Hypospadias, Small f... ORPHA:363958
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Narrow palate, Cleft palate, Feeding difficult... ORPHA:79500
Charge Syndrome
Anal stenosis, Renal agenesis, Facial palsy, Postnatal growth retardation, Esophageal atresia, De... OMIM:214800
Acrorenal-Mandibular Syndrome
Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac... OMIM:200980
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Unilateral renal agenesis, Mild intrauterine growth retardation, Stillbirth, Hydro... OMIM:308050
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Duodenal ulcer, Gastritis, Anorexia, Abdominal pain, Elevated circulating C-reac... OMIM:619381
Campomelic Dysplasia
Hypospadias, Contracture of the distal interphalangeal joint of the fingers, Submucous cleft hard... OMIM:114290
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Renal hypoplasia, Intrauterine g... OMIM:270100
Shwachman-Diamond Syndrome
Abnormality of the gastrointestinal tract, Short stature, Malnutrition, Hypoamylasemia, Growth de... ORPHA:811
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Villous atrophy, Small for gestational age, Elevat... OMIM:619573
Mowat-Wilson Syndrome
Urinary incontinence, Cleft hard palate, Gastrointestinal dysmotility, Flexion contracture, Vomit... ORPHA:2152
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Myositis, Cleft palate, Feeding difficulties... ORPHA:3310
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Postnatal growth retardation, Flexion contracture, Infant... ORPHA:487796
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Feeding difficu... ORPHA:116
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia, Short stature OMIM:231550
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Short stature, Flexion contracture, Hypotonia, Growth delay, Achalasia OMIM:616007
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Cleft hard palate, Flexion contracture, Vesicoureteral reflux, Webbed penis... ORPHA:261537
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia of the lef... OMIM:600001
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Short stature, Unilateral renal agenesis, High, narrow pala... OMIM:188400
Multiple Endocrine Neoplasia Type 1
Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Diarrhea, Nephrolithiasis, H... ORPHA:652
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Hypospadias, Short stature, Small for gestational age, Malrotation of smal... OMIM:194190
Mesomelia-Synostoses Syndrome
Mesomelic short stature, Hydronephrosis, Absent uvula OMIM:600383
Chime Syndrome
Hydronephrosis, Abnormality of the kidney, Cleft palate ORPHA:3474
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Diastasis recti, Rhizomelia, Feeding difficulties in infancy, ... OMIM:261540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Severe muscular hypotonia, Elevated circulating creatine kinase con... OMIM:615287
Iniencephaly
Renal agenesis, Rhizomelia, Congenital diaphragmatic hernia, Arthrogryposis multiplex congenita, ... ORPHA:63259
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Short stature, Delayed puberty, Cleft palate, Feeding difficulties, Hydronephrosis, High palate, ... ORPHA:480880
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Urethral d... OMIM:212093
Parenteral Nutrition-Associated Cholestasis
Villous atrophy, Hepatic failure, Small for gestational age, Abdominal pain ORPHA:567983
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hypotonia, Bifid uvula, Constipation, High palate, Dystonia, Hydronephrosis OMIM:620330
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Cleft hard palate, Flexion contracture, Vesicoureteral reflux, Webbed penis... ORPHA:261552
Lacrimoauriculodentodigital Syndrome
Xerostomia, Renal hypoplasia, Hydronephrosis, Dysphagia, Vesicoureteral reflux, Abnormal salivary... ORPHA:2363
Robinow Syndrome, Autosomal Dominant 1
Short stature, Rhizomelia, Narrow palate, Macroglossia, High palate, Micropenis, Bifid tongue, Sh... OMIM:180700
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Failure to thrive, Hypospadias, Camptodactyly of finger, Shor... ORPHA:3455
Holoprosencephaly 13, X-Linked
Submucous cleft hard palate, Cleft palate, Gastroesophageal reflux, Median cleft palate, Duodenal... OMIM:301043
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Posteriorly placed anus, Horseshoe kidney, Enlarged kidney, Failure to thrive, An... OMIM:306955
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Bowel incontinence, Detrusor sphincter dys... ORPHA:573278
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Short stature, Renal hypoplasia/aplasia, Abnormal renal morphology, Hypotonia, High palate, Hydro... ORPHA:363700
Hydrolethalus Syndrome 1
Hypospadias, Cleft palate, Stillbirth, Intrauterine growth retardation, Agenesis of the diaphragm... OMIM:236680
Feingold Syndrome 1
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... OMIM:164280
Down Syndrome
Aganglionic megacolon, Short stature, Protruding tongue, Hypotonia, Duodenal stenosis, Macrogloss... OMIM:190685
Otopalatodigital Syndrome, Type Ii
Hypospadias, Elbow contracture, Short stature, Postnatal growth retardation, Cleft palate, Stillb... OMIM:304120
Spondyloocular Syndrome
Duodenal ulcer, Short stature, Decreased body weight OMIM:605822
Isolated Congenital Alacrima
Achalasia ORPHA:91416
Microphthalmia, Syndromic 1
Hydroureter, Aganglionic megacolon, Hypospadias, Renal hypoplasia/aplasia, High, narrow palate, R... OMIM:309800
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Short stature, Hydronephrosis OMIM:610682

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Clmp

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Clmp.

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

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Clmptm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clmptm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Clmptm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Clmptm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Clmptm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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