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Gene: Dact1 MGI:1891740

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

dishevelled-binding antagonist of beta-catenin 1

Synonyms:

THYEX3, Frodo, Dapper1, Frd1, Frodo1

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 Dact1 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 Dact1 (3 diseases)
Human diseases predicted to be associated with Dact1 (1018 diseases)

The table below shows human diseases associated to Dact1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia	ORPHA:63260
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ...	OMIM:617466
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857

The table below shows human diseases predicted to be associated to Dact1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Sirenomelia	Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom...	ORPHA:3169
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Spina bifida, Renal hypoplasia/aplasia, Cryptorc...	ORPHA:1756
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Absent external genitalia, Short neck, Hemivertebrae, Urethral...	OMIM:271520
Chromosome 17Q12 Deletion Syndrome	Renal cyst, High palate, Short palm, Long toe, Multicystic kidney dysplasia, Cryptorchidism, Uret...	OMIM:614527
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Death in infancy, Unilateral renal agenesis, Ureteral atresia, V...	OMIM:618845
Renal Agenesis, Bilateral	Renal agenesis, Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia,...	ORPHA:1848
Oculogastrointestinal Neurodevelopmental Syndrome	Sacral dimple, Hemivertebrae, Horseshoe kidney, Vaginal fistula, Anal atresia	OMIM:619318
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Cloacal Exstrophy	Hypoplasia of penis, Ectopic kidney, Abnormal tibia morphology, Hemivertebrae, Abnormality of the...	ORPHA:93929
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft palate, Hypoplasia of the uterus...	OMIM:601076
Juberg-Hayward Syndrome	Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, H...	ORPHA:2319
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Primary amenorrhea, Aplasia of the vagina...	OMIM:158330
Mckusick-Kaufman Syndrome	Urethral stricture, Finger syndactyly, Multicystic kidney dysplasia, Aganglionic megacolon, Tarsa...	ORPHA:2473
Joubert Syndrome 18	Occipital encephalocele, Trident pelvis, Bowing of the long bones, Kyphoscoliosis, Postaxial poly...	OMIM:614815
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Short neck, Azoospermia, Vertebral segmentation defect, Bicornuat...	ORPHA:2578
Lower Limb Malformation-Hypospadias Syndrome	Sacral dimple, Hypospadias, Short neck, Abnormal tibia morphology, Abnormality of the ureter	ORPHA:2487
Mckusick-Kaufman Syndrome	Syndactyly, Hydroureter, Congenital hip dislocation, Mesoaxial hand polydactyly, Aganglionic mega...	OMIM:236700
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis,...	ORPHA:3109
Spina Bifida-Hypospadias Syndrome	Hypospadias, Spina bifida, Spinal dysraphism	ORPHA:3176
Isolated Klippel-Feil Syndrome	Spina bifida, Renal hypoplasia/aplasia, Short neck, Abnormal sacrum morphology, Cleft palate, Ect...	ORPHA:2345
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Broad hallux, Unilateral renal agenesis, Postaxial polydactyly, Hip dysplasia, Aplasia of the vag...	ORPHA:457284
Bardet-Biedl Syndrome 10	Polydactyly, Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Thrombocytopenia-Absent Radius Syndrome	Clinodactyly of the 5th finger, Axial malrotation of the kidney, Phocomelia, Genu varum, Finger s...	ORPHA:3320
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Unilateral renal agenesis, Chronic kidney disease, Hemivertebrae, Renal hypoplasia, Anteriorly pl...	OMIM:617661
Craniorachischisis	Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism, Anal atresia	ORPHA:63260
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Cryptorchidism, 2-3 toe syndactyly, Horseshoe kidney, High palate, Scoliosis, Hypoplastic male ex...	ORPHA:502434
Macdermot-Winter Syndrome	Camptodactyly of finger, Death in infancy, Hydronephrosis, Hypoplastic male external genitalia	OMIM:247990
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Unilateral renal agenesis, Cryptorchidism, High, narrow palate, Renal hypoplasia...	OMIM:618494
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Rocker bottom foot, Spina bifida, Short neck, Camptodactyly...	ORPHA:99776
Diphallia	Bifid scrotum, Ureteral duplication, Epispadias, Hemivertebrae, Ectopic scrotum, Duplicated colon...	ORPHA:227
Vacterl/Vater Association	Bifid scrotum, Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphol...	ORPHA:887
Bardet-Biedl Syndrome 12	Hydroureter, Postaxial hand polydactyly, Hydrometrocolpos, Cystic renal dysplasia, Postaxial foot...	OMIM:615989
Mulchandani-Bhoj-Conlin Syndrome	Hyperlordosis, 2-3 toe syndactyly, Horseshoe kidney, Scoliosis, Clinodactyly	OMIM:617352
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, External genital hypoplasia, Proximal placement of thumb, Absent t...	OMIM:613390
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Overlapping toe, Unilateral renal agenesis, Postaxial polydactyly, P...	OMIM:618142
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormal thumb morpholog...	ORPHA:3266
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis, Precocious puberty, Cryptorchidism, 2-3 toe syndactyly, Gonadal dysgen...	ORPHA:3306
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Cleft...	ORPHA:1926
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C...	ORPHA:3027
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Horseshoe k...	OMIM:216100
Currarino Syndrome	Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Hemisacrum, Urinar...	OMIM:176450
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Short neck, Abnormality of the ureter, Tracheoesophageal fistula, Renal...	ORPHA:1834
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Abn...	OMIM:600057
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Broad hallux, Short neck, 2-3 toe syndactyly, Horseshoe kidney, Short foot, Micropenis	OMIM:300860
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Broad hallux, Bifid distal phalanx of the thumb, Abnormal thumb morphology, Partial duplication o...	ORPHA:2669
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Cleft palate, Primary a...	OMIM:244200
Czeizel-Losonci Syndrome	Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, Myelomeningocele, Hydrocephalus, 2-3 fin...	ORPHA:2437
Bardet-Biedl Syndrome 4	Syndactyly, External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, H...	OMIM:615982
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Hypospadias, Abnormality of ...	ORPHA:363444
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Endometriosis, Unilateral re...	OMIM:613680
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Renal agenesis, Cleft palate, Upper limb phocomelia, Abnormality of the vertebral col...	ORPHA:294975
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Arachnodactyly, Kyphosis, Dilatation of t...	ORPHA:314588
Ring Chromosome 8 Syndrome	Deviation of finger, Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Abnormal stomach morphology, Cryptorchidism, Hypo...	ORPHA:281090
Duane-Radial Ray Syndrome	Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Spina bif...	OMIM:607323
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Hemivertebrae, Holoprosencephaly, Micropenis, Bifid uvula, Aplasia...	ORPHA:672
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Spina bifida, Bifid uterus, Cryp...	ORPHA:83628
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl...	ORPHA:573278
Doors Syndrome	Abnormal finger morphology, Hemivertebrae, Nephrocalcinosis, High palate, Gastroesophageal reflux...	ORPHA:79500
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Horseshoe kidney, Aortic valve stenosis, A...	ORPHA:3097
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Nephrogenic res...	OMIM:608022
Androgen Insensitivity, Partial	Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad...	OMIM:312300
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Mosaic Variegated Aneuploidy Syndrome 3	Cleft palate, Nephroblastoma, Horseshoe kidney	OMIM:617598
Oeis Complex	Congenital hip dislocation, Epispadias, Ambiguous genitalia, female, Hemivertebrae, Anteriorly pl...	OMIM:258040
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Rocker bottom foot, Unilateral renal agenesis, Camptodactyly of finger...	OMIM:619951
Trisomy 20P	Short neck, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Finger syndacty...	ORPHA:261318
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Pelvis-Shoulder Dysplasia	Syndactyly, Ambiguous genitalia, Lumbar hyperlordosis, Camptodactyly of finger, Spina bifida, Apl...	ORPHA:2839
Short Stature, Brussels Type	Delayed epiphyseal ossification, Horseshoe kidney	ORPHA:2867
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Cryptorchidism, Cleft palate, Vertebral segmentation defect, Multiple r...	ORPHA:1166
Emanuel Syndrome	Recurrent urinary tract infections, Sacral dimple, Congenital hip dislocation, Intestinal malrota...	OMIM:609029
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve...	OMIM:615709
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Scoliosis, Ves...	OMIM:617271
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Femoral bowing, Abnormal shoulder morphology, Axial malrotation of the kidn...	OMIM:274000
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Short metatarsa...	ORPHA:1772
Femoral-Facial Syndrome	Short femur, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal sacrum morphology, Long penis, Ab...	ORPHA:1988
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Fetal Encasement Syndrome	Upper limb undergrowth, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Low...	OMIM:613630
Ssr4-Cdg	Scoliosis, Horseshoe kidney	ORPHA:370927
Schisis Association	Encephalocele, Renal agenesis, Spina bifida, Micromelia, Anencephaly, Tracheoesophageal fistula, ...	ORPHA:63862
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Emanuel Syndrome	Sacral dimple, Congenital hip dislocation, Unilateral renal agenesis, Kyphoscoliosis, Cryptorchid...	ORPHA:96170
3Mc Syndrome 3	Bifid scrotum, Sacral dimple, Cryptorchidism, Clinodactyly, Preaxial polydactyly, Horseshoe kidne...	OMIM:248340
Craniofacial Dyssynostosis With Short Stature	Cryptorchidism, Hypospadias, Pyloric stenosis, Horseshoe kidney	OMIM:218350
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Hydranencephaly, Cleft palate, Unilateral renal agenesis, Short distal phalanx of finger	OMIM:601355
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Spina bifida, Abnormal foot morphology, Preaxial polydactyly, ...	ORPHA:64754
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, High, narrow palate, Femoral bowing, Anteriorly placed anus, Abnormal ovarian...	ORPHA:95699
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Hand polydactyly, Aganglionic megacolon, Unilateral renal agenesis	OMIM:235740
Hogue-Janssen Syndrome 2	Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Hip dysplasia, Scoliosis, Deviati...	OMIM:616362
Chopra-Amiel-Gordon Syndrome	Cleft palate, Scoliosis, Unilateral renal agenesis	OMIM:619504
Diaphanospondylodysostosis	Short neck, Myelomeningocele, Cleft palate, Narrow pelvis bone, Multiple renal cysts, Absent or m...	ORPHA:66637
Distal Deletion 10Q	Prominent fingertip pads, Lumbar hyperlordosis, Sandal gap, Tapered finger, 2-3 toe cutaneous syn...	ORPHA:96148
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Short palm, Ectopic kidney, Cryptorchidism, Rectal prolapse, Small hand, Horseshoe kidney, Narrow...	OMIM:235510
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Rectal atresia, Re...	OMIM:617666
Ehlers-Danlos Syndrome, Classic-Like	Unilateral renal agenesis, Hiatus hernia, Ambiguous genitalia, female, Bicornuate uterus, Vesicou...	OMIM:606408
Braddock Syndrome	Unilateral renal agenesis, Short neck, Preaxial hand polydactyly, Hemivertebrae, Scoliosis	ORPHA:52047
Waardenburg Syndrome, Type 1	Myelomeningocele, Aplasia of the vagina, Spina bifida, Supernumerary vertebrae	OMIM:193500
Combined Oxidative Phosphorylation Deficiency 32	Death in infancy, Kyphoscoliosis, Horseshoe kidney	OMIM:617664
Congenital Myopathy 19	Cryptorchidism, Renal atrophy, High palate, Scoliosis, Hydronephrosis	OMIM:618578
Image Syndrome	Metaphyseal dysplasia, Hypospadias, Cryptorchidism, Hypogonadism, Hydronephrosis	ORPHA:85173
Williams-Beuren Region Duplication Syndrome	Cryptorchidism, High palate, Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Cryptorchidism, Kyphosis, Sc...	OMIM:619797
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Micropenis, Unilateral renal agenesis	OMIM:618504
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger,...	ORPHA:2311
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Autosomal Recessive Spastic Paraplegia Type 23	Kyphoscoliosis, Hip dislocation, Horseshoe kidney	ORPHA:101003
Acces Syndrome	Hip dislocation, Tracheoesophageal fistula, Horseshoe kidney, Hip dysplasia, Split foot, Ectrodac...	OMIM:619959
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Short neck, Renal hypoplasia, Renal cyst, 2-3 toe syndactyly, Ureteral agenesis, Cutaneous syndac...	OMIM:236500
Microgastria-Limb Reduction Defect Syndrome	Abnormal finger morphology, Phocomelia, Microgastria, Multicystic kidney dysplasia, Aplastic clav...	ORPHA:2538
Acalvaria	Talipes, Spina bifida, Hydrocephalus, Postaxial hand polydactyly, Cleft palate, Holoprosencephaly	ORPHA:945
Ophthalmoplegia, External, And Myopia	Absent patellar reflexes, Spina bifida, Absent Achilles reflex	OMIM:311000
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az...	ORPHA:48
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Anal atresia, Hydroureter, Toe syndactyly, Septate vagina, Valvular pu...	OMIM:300707
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis, Short neck, Cleft palate, Scoliosis, Cervic...	OMIM:118100
Tetrasomy 15Q26	Arachnodactyly, Kyphoscoliosis, Horseshoe kidney, High palate, Camptodactyly, Hydronephrosis	OMIM:614846
Meckel Syndrome, Type 10	Occipital encephalocele, Sacral dimple, Hypospadias, Postaxial polydactyly, Postaxial hand polyda...	OMIM:614175
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Mesoaxial hand polydactyly, Postaxial polydacty...	OMIM:615996
Cat Eye Syndrome	Anal stenosis, Renal agenesis, Intestinal malrotation, Rectal fistula, Absent radius, Rectal atre...	OMIM:115470
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal...	OMIM:609945
3Mc Syndrome 2	Hypospadias, Cryptorchidism, Hip dislocation, Horseshoe kidney, Cleft palate, Radioulnar synostos...	OMIM:265050
Matthew-Wood Syndrome	Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Duodenal stenosis, Abnormality of the uterus,...	ORPHA:2470
Trisomy 13	Cryptorchidism, Kyphosis, Postaxial hand polydactyly, Abnormality of the ureter, High, narrow pal...	ORPHA:3378
Meckel Syndrome, Type 6	Occipital encephalocele, Abnormal internal genitalia, Postaxial hand polydactyly, Anencephaly, Re...	OMIM:612284
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Short neck, Cleft palate, Polydactyly, Polycystic kidney ...	OMIM:613885
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Unilateral renal agenesis, Cryptorchidism, Neonatal epiphyseal s...	OMIM:101800
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Bifid distal phalanx of the thumb, Pyloric stenosis, Hypoplastic labia...	OMIM:618419
Fanconi Anemia, Complementation Group I	Short neck, Absent thumb, Short thumb, Abnormal renal morphology, Hypoplasia of the radius, Renal...	OMIM:609053
Proteus Syndrome	Pulmonary embolism, Abnormal finger morphology, Renal cyst, Abnormal form of the vertebral bodies...	ORPHA:744
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Toe syndactyly, Renal agenesis, Ectopic kidney, Hypoplasia of the radius, Ho...	ORPHA:140952
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Kyphoscoliosis, Tapered finger, Cryptorchidism, Slender finger, Functional abn...	ORPHA:2953
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Abnormal localization of kidney, Hip dysplasia, Hydronephrosis, Anal at...	ORPHA:195
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Renal malrotation, Congenital hip dislocation, Intestinal malr...	OMIM:113650
Kallmann Syndrome With Spastic Paraplegia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, High palate, Micropenis...	OMIM:308750
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis, Esophageal atresia, Submucous cleft hard palate, Trach...	OMIM:619227
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Short neck, Cryptorchidism, Kyphosi...	ORPHA:3409
Acro-Renal-Ocular Syndrome	Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Vertebral fusion, Hypo...	ORPHA:959
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Sandal gap, Postaxial polydactyly, Hamartoma of tongue, Aganglionic me...	OMIM:174300
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cryptorchidism, Azoosper...	OMIM:308700
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Bowed forearm bones, Renal agenesis, Ectopic kidney, Absent radius, Absent ...	OMIM:602200
Meckel Syndrome, Type 9	Ambiguous genitalia, Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Verheij Syndrome	Branchial cyst, Vertebral fusion, Renal agenesis, Short neck, Hemivertebrae, Renal hypoplasia, Re...	OMIM:615583
Mosaic Trisomy 16	Syndactyly, Hypospadias, Large placenta, Short thumb, Horseshoe kidney, Anteriorly placed anus, S...	ORPHA:1708
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Hypospadias, Arachnodactyly, Coxa valga, Cryptorchidism, Metaphyseal widening, Hip dislocation, H...	OMIM:620083
3Q29 Microdeletion Syndrome	Hypospadias, Tapered finger, Horseshoe kidney, High palate, Six lumbar vertebrae, Clinodactyly of...	ORPHA:65286
Bardet-Biedl Syndrome 21	Postaxial hand polydactyly, Horseshoe kidney	OMIM:617406
Vacterl With Hydrocephalus	Absence of the sacrum, Renal agenesis, Spina bifida, Renal hypoplasia/aplasia, Aqueductal stenosi...	ORPHA:3412
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Back pain, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaur...	OMIM:143400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ectopic kidney, Cryptorchidism, Neonatal death, Cystic renal dysplasia	OMIM:613730
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Kyphoscoliosis, Precocious puberty, Abnormal toe morphology, Abnormal finger m...	OMIM:163200
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Anal atresia, Intestinal ...	ORPHA:2973
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic anus	ORPHA:2476
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Hypertelorism-Microtia-Facial Clefting Syndrome	Crossed fused renal ectopia, Horseshoe kidney, Median cleft lip and palate	ORPHA:2213
12Q14 Microdeletion Syndrome	Intestinal malrotation, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Scoliosis, Clinodacty...	ORPHA:94063
Carpenter Syndrome 1	External genital hypoplasia, Duplication of the proximal phalanx of the hallux, Short neck, High ...	OMIM:201000
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
1Q44 Microdeletion Syndrome	Intestinal malrotation, Horseshoe kidney, High palate, Scoliosis, Vesicoureteral reflux	ORPHA:238769
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Brachydactyly, Toe syndactyly, Sacral dimple, Camptodactyly of finger, Spina bifid...	ORPHA:1327
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent thumb, Absent radius, Esophagea...	OMIM:614083
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Hip dysplasia, Vertebral segmentation defect, Polydac...	ORPHA:531151
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti...	OMIM:619217
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Short neck, Thoracic kyphosis, Short palm, Clinodactyly of the 5th finger, Th...	ORPHA:508498
Microphthalmia With Limb Anomalies	Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot olig...	ORPHA:1106
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn...	OMIM:617641
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Unilateral renal agenesis, Multiple small medullary renal...	OMIM:216360
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Recurrent urinary tract infections, Hypospadias, Cryptorchidism, Submucous cleft hard palate, Hor...	OMIM:619103
Lathosterolosis	Abnormal thoracic spine morphology, Hypoplasia of penis, Toe syndactyly, Postaxial hand polydacty...	ORPHA:46059
Odontochondrodysplasia 1	Death in infancy, Biconvex vertebral bodies, Short metacarpal, Brachydactyly, Metaphyseal widenin...	OMIM:184260
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha...	ORPHA:93260
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi...	OMIM:308050
Mosaic Trisomy 20	Vertebral fusion, Abnormality of the kidney, Down-sloping shoulders, Cryptorchidism, Kyphosis, Sp...	ORPHA:1724
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Sacral dim...	ORPHA:2438
Prune Belly Syndrome	Congenital hip dislocation, Hydroureter, Cryptorchidism, Xerostomia, Congenital posterior urethra...	OMIM:100100
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Septate vagina, Uterus didelphys, Cleft palate, H...	ORPHA:2237
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Epiphyseal stippling, Renal cyst	OMIM:614870
Frontal Encephalocele	Encephalocele, Hydrocephalus, Spina bifida	ORPHA:1931
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs...	OMIM:227645
Autoinflammatory Disease, Familial, Behcet-Like 3	Vaginal mucosal ulceration, Ileitis	OMIM:618287
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Cleft palate, 2-3 toe syndactyly, Bifid uvula	OMIM:608572
Focal Dermal Hypoplasia	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Camptodactyly of finger, Spina b...	ORPHA:2092
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra...	OMIM:314390
Pallister-Hall Syndrome	Ectopic kidney, Hemivertebrae, Renal cyst, Anteriorly placed anus, Neonatal death, Micropenis, Sy...	OMIM:146510
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Increased intervertebral space, Thoracolumbar kyphosis, Narrow greater sciatic notch, Short phala...	ORPHA:508533
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte...	ORPHA:2522
Vater/Vacterl Association	Occipital encephalocele, Ectopic kidney, Preaxial polydactyly, Patent urachus, Triphalangeal thum...	OMIM:192350
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Dysmenorrhea, Decreased fe...	ORPHA:90796
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Short metacarpal, Metaphyseal chondrodysplasia, Cryptorchidism, Renal cyst, Horses...	ORPHA:166035
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Hydrometrocolpos, Horseshoe kidney, Aplasia of...	OMIM:617088
Hand-Foot-Genital Syndrome	Bifid scrotum, Proximal placement of thumb, Pseudoepiphyses, Delayed tarsal ossification, Clinoda...	OMIM:140000
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormal external genitalia, Abnormality of the urethra, Penoscrotal...	ORPHA:2842
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Sandal gap, Hypospadias, Renal hypoplasia/aplasia, Abnormality of the ureter	ORPHA:1046
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Arachnodactyly, Ureterovesic...	ORPHA:314585
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Talipes equinovarus, Spina bifida, Camptodactyly	OMIM:211960
Takenouchi-Kosaki Syndrome	Hypospadias, Overlapping toe, Unilateral renal agenesis, Proximal placement of thumb, Tapered fin...	OMIM:616737
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Hypospadias, Precocious puberty, Cryptorchidism, High, narrow palate, Horseshoe kidne...	ORPHA:96182
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Fanconi Anemia	Abnormal femur morphology, High palate, Abnormality of the uterus, Triphalangeal thumb, Clinodact...	ORPHA:84
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Hypospadias, Unilateral renal agenesis, Tapered finger, Cryptorchi...	ORPHA:464311
Microphthalmia, Syndromic 9	Renal malrotation, Cryptorchidism, Renal hypoplasia, Horseshoe kidney, Hypoplasia of the uterus, ...	OMIM:601186
Congenital Disorder Of Glycosylation, Type Iil	Death in infancy, Postaxial polydactyly, Unilateral renal agenesis, Esophageal varix, Hip dysplas...	OMIM:614576
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E...	OMIM:227650
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Renal cy...	OMIM:270400
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the radius, Horseshoe kidney, Cutaneous ...	OMIM:311900
3C Syndrome	Finger syndactyly, Hypoplasia of penis, Death in infancy, Hypospadias, Intestinal malrotation, Sh...	ORPHA:7
Cousin Syndrome	Short neck, Ambiguous genitalia, female, Prominent protruding coccyx, Ambiguous genitalia, male, ...	OMIM:260660
Genitopalatocardiac Syndrome	Gonadal dysgenesis, male, Hypospadias, Cleft palate, Renal cyst	OMIM:231060
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Renal agenesis, Broad hallux, Ectopic kidney, Hypoplasia of t...	OMIM:212780
Joubert Syndrome 37	Lumbar hyperlordosis, Postaxial polydactyly, Cryptorchidism, Hydronephrosis, High palate, Micrope...	OMIM:619185
Diamond-Blackfan Anemia 7	Short thumb, Horseshoe kidney, Cleft palate, Scoliosis, Triphalangeal thumb, Vesicoureteral reflu...	OMIM:612562
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Dysmenor...	ORPHA:3411
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,...	ORPHA:957
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Absence of the sacrum, Tethered cord, Talipes, Submucous cleft hard palate, Renal hypoplasia, Spi...	OMIM:617660
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ...	OMIM:617466
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Toe syndactyly, Hypospadias, Arachnodactyly, Unilateral renal agenesis, Cryptorchi...	ORPHA:464306
Nail-Patella Syndrome	Back pain, Patellar hypoplasia, Clinodactyly of the 5th finger, Absent distal interphalangeal cre...	OMIM:161200
Ritscher-Schinzel Syndrome 1	Syndactyly, Hypospadias, Hemivertebrae, Cleft palate, Hydronephrosis, Anal atresia	OMIM:220210
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Cleft palate, Sex reversal, Hydronephrosis, Gonadal dy...	OMIM:154230
15q26 overgrowth syndrome	Long toe, Renal agenesis, Abnormality of the kidney, Arachnodactyly, Short neck, Tapered finger, ...	DECIPHER:81
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Cryptorchidism, Horseshoe kidney, C...	ORPHA:2886
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Chronic gastritis, Thoracolumbar scoliosis, Myocardial infarction, ...	OMIM:150230
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Shashi-Pena Syndrome	Short metacarpal, Unilateral renal agenesis, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Joubert Syndrome 7	Encephalocele, Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease,...	OMIM:611560
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Short neck, Cleft palate, Primary amenorrhea, Hypoplasia of the uterus, Abnormal ...	ORPHA:247768
Phakomatosis Pigmentokeratotica	Spina bifida, Precocious puberty, Cryptorchidism, Raynaud phenomenon, Renal transitional cell car...	ORPHA:2874
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Back pain, Renal cyst	OMIM:174050
Teebi-Shaltout Syndrome	Syndactyly, Ureteral stenosis, Rocker bottom foot, Metatarsus adductus, High, narrow palate, Hors...	OMIM:272950
Bardet-Biedl Syndrome 6	Syndactyly, Hypospadias, External genital hypoplasia, Postaxial polydactyly, Renal cyst, Vaginal ...	OMIM:605231
Rhyns Syndrome	Multicystic kidney dysplasia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bon...	ORPHA:140976
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Fanconi Anemia, Complementation Group P	Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, Horseshoe kidney, Pelvic kidney	OMIM:613951
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Spina bifida occulta, Hydronephrosis	OMIM:618060
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Secondary amenorrhea, Hip dysplasia, Clin...	ORPHA:3375
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Short neck, Cryptorchidism, Hydronep...	ORPHA:2083
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Abnormality of the ur...	ORPHA:37202
Developmental Delay, Language Impairment, And Ocular Abnormalities	Tethered cord, Myelomeningocele, Scoliosis, Pulmonic stenosis, Facial telangiectasia, Contracture...	OMIM:620141
Radial-Renal Syndrome	Absent radius, Absent thumb, Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Chops Syndrome	Cryptorchidism, High, narrow palate, Horseshoe kidney, Vesicoureteral reflux, Cervical C2/C3 vert...	OMIM:616368
Jacobsen Syndrome	Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha...	ORPHA:2308
6P22 Microdeletion Syndrome	Finger syndactyly, Clinodactyly, Hydronephrosis, Short neck	ORPHA:251046
Female Infertility Due To Oocyte Meiotic Arrest	Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A...	ORPHA:488191
Anophthalmia Plus Syndrome	Spina bifida, Cleft palate, Bilateral cleft lip and palate, Deviation of finger, Vertebral segmen...	ORPHA:1104
Seckel Syndrome 8	Kyphoscoliosis, Ectopic kidney	OMIM:615807
X-Linked Intellectual Disability, Schimke Type	Vesicoureteral reflux, Hip contracture, High palate, Hydronephrosis	ORPHA:85285
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs...	OMIM:600901
Fountain Syndrome	Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Abnorma...	ORPHA:3219
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Unilateral renal agenesis, Short neck, Broad distal phalanx of the ...	OMIM:619194
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Renal agenesis, Hypergonadotropic hypogonadism, Ectopic kidney, Abs...	OMIM:227646
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis, Precocious puberty, Anteriorly placed anus, Rectovagin...	OMIM:608980
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Toe syndactyly, Jejunal atresia, Abnormality of the kidney,...	ORPHA:391641
Lathosterolosis	Toe syndactyly, Lumbosacral meningocele, Myelomeningocele, Postaxial hand polydactyly, Horseshoe ...	OMIM:607330
Koolen-De Vries Syndrome	Ureteral duplication, Vertebral fusion, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Hi...	ORPHA:96169
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal corte...	ORPHA:2260
Seckel Syndrome 2	Clinodactyly of the 5th finger, Microglossia, Hypospadias, Ectopic kidney	OMIM:606744
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Iniencephaly	Encephalocele, Renal agenesis, Rhizomelia, Spina bifida, Rocker bottom foot, Hyperlordosis, Myelo...	ORPHA:63259
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Tricuspid regurgitation, Proximal placement of thumb, Spina bifida, Abnormal th...	ORPHA:1120
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Short neck, Kyphoscoliosis, Cryptorchidism, Delayed menar...	OMIM:151100
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short neck, Tapered finger, Urethral stenosis, Cleft palate,...	ORPHA:261290
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Proximal placement of thumb, Short neck, Hemivert...	OMIM:261540
Hypertelorism, Microtia, Facial Clefting Syndrome	Ectopic kidney, 2-3 toe syndactyly, Cleft palate, Abnormality of the vertebral column, Short 5th ...	OMIM:239800
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Foot oligodactyly, Triphalangeal thumb, Abnormality of the cervi...	OMIM:154400
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Hypospa...	OMIM:611209
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Arachnodactyly, Cryptorchidism, Kyphosis, Abnormal sho...	ORPHA:2115
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Bifid scrotum, Cryptorchidism, Glandular hypospadias, Blind vagina, High palate, Micropenis, Peni...	ORPHA:456328
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Umbi...	ORPHA:1035
Cutis Laxa, Autosomal Dominant 3	Os odontoideum, Hip dislocation, Unilateral renal agenesis, Adducted thumb	OMIM:616603
Meacham Syndrome	Death in infancy, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic...	OMIM:608978
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Congenital hip dislocation, Irregular vertebral endplates, Posterior scalloping of vertebral bodi...	OMIM:603546
Pagod Syndrome	Encephalocele, Death in infancy, Multicystic kidney dysplasia, Spina bifida, Renal hypoplasia/apl...	ORPHA:991
C Syndrome	Death in infancy, Multicystic kidney dysplasia, Sacral dimple, Toe syndactyly, Renal hypoplasia/a...	ORPHA:1308
Hyperparathyroidism, Transient Neonatal	Short femur, Metaphyseal spurs, Unilateral renal agenesis, Femoral bowing, Ovarian cyst, Short lo...	OMIM:618188
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Bilateral cleft palate, Unilateral renal agenesis, Absent thumb, Unilater...	OMIM:614900
Recombinant Chromosome 8 Syndrome	Cryptorchidism, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, Hydronephrosis	OMIM:179613
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hypoplasia of the ulna, H...	OMIM:613091
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Renal hypoplasia/aplasia, Abnormality of the ureter, Cleft palate, Polycystic ovaries, Gonadal dy...	ORPHA:1770
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Abnormal vagina morphology, Renal hypoplasia/aplasia	ORPHA:2123
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Arachnodactyly, Toe syndactyly, Camptodactyly of fin...	ORPHA:261344
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anterior...	OMIM:305600
Microphthalmia, Lenz Type	Finger syndactyly, Hydroureter, Hypospadias, Camptodactyly of finger, Renal hypoplasia/aplasia, H...	ORPHA:568
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Peutz-Jeghers Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Neoplasm of the colon, In...	ORPHA:2869
7Q11.23 Microduplication Syndrome	Sacral dimple, Hypospadias, Unilateral renal agenesis, Short neck, Cryptorchidism, Long fingers, ...	ORPHA:96121
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Cleft palate, Hypoplasia ...	OMIM:119500
Orofaciodigital Syndrome Xv	Broad hallux, Postaxial hand polydactyly, Duplication of phalanx of hallux, Lobulated tongue, Hyd...	OMIM:617127
Intellectual Developmental Disorder, X-Linked 99	Broad hallux, Hypospadias, Broad thumb, Ectopic kidney	OMIM:300919
14Q24.1Q24.3 Microdeletion Syndrome	Intestinal malrotation, Ectopic kidney, Cryptorchidism, Short thumb, Dislocated radial head, Brac...	ORPHA:401935
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Small scrotum, Hemivertebrae, Femoral bowing, Anteriorly place...	OMIM:201750
Waardenburg Syndrome Type 1	Aganglionic megacolon, Spina bifida, Meningocele, Cleft palate, Scoliosis	ORPHA:894
Cerebrocostomandibular Syndrome	Death in infancy, Multicystic kidney dysplasia, Spina bifida, Kyphosis, Myelomeningocele, Meningo...	ORPHA:1393
Acrorenal-Mandibular Syndrome	Hemivertebrae, Aplasia of the bladder, High palate, Hypoplasia of the ulna, Split hand, Bicornuat...	OMIM:200980
Trisomy 18	Camptodactyly of finger, Abnormality of the upper urinary tract, Spina bifida, Cryptorchidism, Ab...	ORPHA:3380
Pallister-Killian Syndrome	Small scrotum, Congenital hip dislocation, Short neck, Renal cyst, Anteriorly placed anus, Campto...	OMIM:601803
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Clinodactyly, Renal hypoplasia, Microp...	OMIM:616541
White-Kernohan Syndrome	Hydroureter, Horseshoe kidney, Anteriorly placed anus, Hip dysplasia, Rectovaginal fistula, Hydro...	OMIM:619426
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Malabsorption, Abnormal vagina morphology, An...	ORPHA:2315
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Unilat...	OMIM:213980
Meckel Syndrome 12	Ureteral hypoplasia, Rocker bottom foot, Renal hypoplasia, Hypoplasia of the uterus, Bifid uvula,...	OMIM:616258
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Hypospadias, Fractured radius, Short neck, Decreased fibular diameter, Flared metaph...	OMIM:616897
Schizophrenia 1	Partially duplicated kidney, Syndactyly, Renal agenesis, Ectopic kidney, Short proximal phalanx o...	OMIM:181510
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Sacral dimple, Toe syndactyly, Camptodactyly of finger, Unilateral renal agene...	ORPHA:261337
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Hypoplasia of the radius, Cleft palat...	ORPHA:245
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Kyphosis, ...	ORPHA:2075
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, S...	ORPHA:140
Kury-Isidor Syndrome	Finger syndactyly, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Short neck, Hi...	OMIM:619762
Marden-Walker Syndrome	Epispadias, Abnormal form of the vertebral bodies, Bifid uvula, Abnormal penis morphology, Multic...	ORPHA:2461
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Intestinal malrotation, Short n...	ORPHA:2059
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Isolated Polycystic Liver Disease	Back pain, Multiple renal cysts	ORPHA:2924
Joubert Syndrome 16	Encephalocele, Polydactyly, Renal cyst, Nephronophthisis	OMIM:614465
22Q11.2 Duplication Syndrome	Urethral stenosis, Cleft palate, Scoliosis, Displacement of the urethral meatus, Hydronephrosis	ORPHA:1727
Mesomelia-Synostoses Syndrome	Abnormality of the knee, Brachydactyly, Micromelia, Abnormality of the humerus, Abnormal foot mor...	ORPHA:2496
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Short palm, Abnormal vertebral segmentation and fusion, Synos...	ORPHA:90652
Kinsship Syndrome	Death in infancy, Sacral dimple, Short neck, Coxa valga, Hip dislocation, Renal hypoplasia, Horse...	OMIM:619297
Oocyte/Zygote/Embryo Maturation Arrest 10	Miscarriage, Female infertility	OMIM:619176
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5...	OMIM:180860
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Preaxial foot polydactyly, Multicystic kidney dysplasia, Postaxial hand polydactyly, Triphalangea...	ORPHA:2091
Thomas Syndrome	Multicystic kidney dysplasia, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3316
Melnick-Needles Syndrome	Bowing of the long bones, Coxa valga, Hip dislocation, Cone-shaped epiphyses of the phalanges of ...	ORPHA:2484
Bardet-Biedl Syndrome	Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Short neck, Cryptorchidism,...	ORPHA:110
Chromosome 17P13.1 Deletion Syndrome	Hallux valgus, Sacral dimple, Arachnodactyly, Broad hallux, Proximal placement of thumb, Spina bi...	OMIM:613776
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Kyphosis, Abnormal localization of...	ORPHA:2510
Bresek Syndrome	Decreased testicular size, Hypoplasia of the bladder, Aganglionic megacolon, Cryptorchidism, Post...	ORPHA:85284
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Kyphoscoliosis, Tapered finger, Coxa valga, Cryptorchidism, Kyphosis...	OMIM:301040
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Patellar hypoplasia, Femoral bowin...	OMIM:114290
Amish Lethal Microcephaly	Death in infancy, Organic aciduria, Cleft soft palate, Spina bifida	ORPHA:99742
Mosaic Trisomy 8	Decreased testicular size, Camptodactyly of finger, Short neck, Cryptorchidism, Patellar aplasia,...	ORPHA:96061
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hypospadias, Rocker bottom foot, Coxa valga, Cryptorchidism, Postax...	OMIM:301056
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis, Anal atresia	OMIM:235760
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	2-5 finger syndactyly, Hypospadias, Camptodactyly of finger, Unilateral renal agenesis, Cryptorch...	ORPHA:468631
Aplasia Cutis Congenita	Finger syndactyly, Toe syndactyly, Spinal dysraphism	ORPHA:1114
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Robinow Syndrome, Autosomal Recessive 1	Short neck, Hemivertebrae, Nephrocalcinosis, Clitoral hypoplasia, Short palm, Thoracic hemiverteb...	OMIM:268310
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Postaxial polydactyly, Hamartoma of tongue, Cryptorchidism, Squared iliac bones, P...	OMIM:616300
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Multicystic kidney dysplasia, Cryptorchidism, Aplasia/Hypoplasia i...	ORPHA:3301
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia, Dysphagia	OMIM:207950
Pseudoaminopterin Syndrome	Brachydactyly, Overlapping toe, Postaxial polydactyly, Cryptorchidism, Short thumb, Slender finge...	ORPHA:221120
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Urethral atresia, Vertebral segmentation defect, High palate,...	ORPHA:2052
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia	OMIM:274265
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal...	ORPHA:1225
Gillessen-Kaesbach-Nishimura Syndrome	Short neck, Metaphyseal widening, Short long bone, Bicornuate uterus, Narrow greater sciatic notc...	OMIM:263210
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech...	OMIM:617914
Kabuki Syndrome	Hypoplasia of penis, Hemivertebrae, Abnormal form of the vertebral bodies, High palate, Hypospadi...	ORPHA:2322
Cerebrocostomandibular Syndrome	Short humerus, Anal stenosis, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft s...	OMIM:117650
Charge Syndrome	Bifid scrotum, Hypogonadotropic hypogonadism, Abnormal soft palate morphology, Cryptorchidism, Ab...	ORPHA:138
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Hydronephrosis	OMIM:618240
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Silver-Russell Syndrome	Abnormality of male external genitalia, Hypospadias, Sandal gap, Precocious puberty, Cryptorchidi...	ORPHA:813
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, Abnormal pelvic girdle bone morphology, High palate, Clinodactyly of the 5th fing...	ORPHA:3079
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco...	OMIM:613496
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Hypospadias, Bowing of the long bones, Postaxial...	OMIM:614091
Ulnar Hemimelia	Abnormal calcification of the carpal bones, Aplasia of the 4th finger, Dislocated radial head, Ra...	ORPHA:93320
Basal Cell Nevus Syndrome 1	Vertebral fusion, Ovarian fibroma, Spina bifida, Kyphoscoliosis, Hydrocephalus, Plantar pits, Irr...	OMIM:109400
Roifman-Chitayat Syndrome	Short metacarpal, Short neck, Ectopic kidney, Short metatarsal, Cone-shaped epiphysis, Umbilical ...	OMIM:613328
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis, Hyperlordosis, Clinodactyly of the...	ORPHA:221139
8P23.1 Duplication Syndrome	Toe syndactyly, Hydronephrosis	ORPHA:251076
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Polyuria, Mesoaxial hand polydactyly, Postaxial h...	OMIM:615994
X-Linked Intellectual Disability Due To Gria3 Mutations	Cryptorchidism, Kyphosis, Narrow palate, Scoliosis, Micropenis, Hydronephrosis	ORPHA:364028
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Kyphosis, 2-3 toe syndactyly, Cleft palate, Furrowed tongue, High palate, Scoliosis,...	OMIM:616449
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Congenital hip dislocation, Renal agenesis, Block vertebrae, Aqueductal st...	OMIM:306955
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Short neck, Cryptorchidism, Postaxial hand polydactyly, Abnormal renal morphology, High palate, A...	ORPHA:1655
Chromosome 2P16.1-P15 Deletion Syndrome	Arachnodactyly, Kyphoscoliosis, Metatarsus adductus, Cryptorchidism, High, narrow palate, Calcane...	OMIM:612513
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, H...	ORPHA:1507
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Malabsorption, Cryptorchidism, Pylor...	ORPHA:912
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Syndactyly, Congenital hip dislocation, Hemivertebrae, High palate, Scoliosis, Umbilical hernia, ...	OMIM:104350
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Proximal placement of thumb, Short neck, Renal cyst, Promine...	OMIM:229850
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Radioulnar synostosis, Multicystic kidney dysplasia	ORPHA:3270
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Brachydactyly, Metaphyseal chondrodysplasia, Renal cyst,...	OMIM:250410
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Transverse vaginal septum, Xerostomia, Anteriorly placed anus, Ureteroce...	OMIM:604292
Sacral Defect With Anterior Meningocele	Back pain, Myeloschisis, Neurogenic bladder, Tethered cord, Absence of the sacrum, Hemisacrum, My...	OMIM:600145
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Small scrotum, Hypoplastic ischia, Hypoplastic ili...	ORPHA:85201
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency	Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ...	ORPHA:753
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Short thumb,...	ORPHA:3258
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Recurrent urinary tract infections, Sacral dimple, Hypospadias, Cleft soft palate,...	ORPHA:268261
Roberts-Sc Phocomelia Syndrome	Short neck, Tetraphocomelia, High palate, Phocomelia, Syndactyly, Hypoplasia of the ulna, Hypospa...	OMIM:268300
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Limb Body Wall Complex	Encephalocele, Duplication of hand bones, Broad hallux, Abnormality of the kidney, Spina bifida, ...	ORPHA:2369
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Sacral dimple, Hypoplastic scapulae, Short n...	ORPHA:3310
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Clef...	ORPHA:107
Pelvic Lipomatosis With Crossed Renal Ectopia	Ectopic kidney	OMIM:169545
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Alagille Syndrome	Hypoplasia of the ulna, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, Abno...	ORPHA:52
Kabuki Syndrome 2	Hip dislocation, Horseshoe kidney, Cleft palate, Short 5th finger, High palate, Prominent fingert...	OMIM:300867
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Zaki Syndrome	Sacral dimple, Toe syndactyly, Renal agenesis, Long fingers, Ectrodactyly, High palate, Scoliosis...	OMIM:619648
Turner Syndrome Due To Structural X Chromosome Anomalies	Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate...	ORPHA:99413
Mosaic Monosomy X	Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate...	ORPHA:99228
Monosomy X	Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate...	ORPHA:99226
Turner Syndrome	Ectopic kidney, Short neck, High, narrow palate, Inflammation of the large intestine, High palate...	ORPHA:881
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Abnormality of the urethra, Cryptorchidism, Male pseudohermaphrodi...	ORPHA:752
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Renal hypoplasia/aplasia, Anencephaly, Abnormal f...	ORPHA:1590
Thakker-Donnai Syndrome	Short neck, Hemivertebrae, Tracheoesophageal fistula, Rectovaginal fistula, Cervical C2/C3 verteb...	ORPHA:1780
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Bilateral...	ORPHA:90797
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo...	ORPHA:3440
Distal Duplication 6P	Sacral dimple, Short neck, Renal hypoplasia, Abnormality of the urinary system, Hydronephrosis	ORPHA:1745
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hypospadias, Small hand, Horseshoe kidney, Fibular hypoplasia, Hypoplasia of proximal radius, Glo...	ORPHA:444077
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age...	OMIM:308205
Carey-Fineman-Ziter Syndrome	Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Cleft palate, Ulnar deviation of finger,...	ORPHA:1358
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Heart block, Metaphyseal chondrodysplasia, Abnormal form of the vertebral...	ORPHA:175
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Septate vagina, Short neck, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, ...	OMIM:617925
Meckel Syndrome, Type 11	Occipital encephalocele, Polydactyly, Polycystic kidney dysplasia	OMIM:615397
Charge Syndrome	External genital hypoplasia, Hemivertebrae, Hand monodactyly, Micropenis, Hypoplasia of the ulna,...	OMIM:214800
Even-Plus Syndrome	Epiphyseal dysplasia, Recurrent urinary tract infections, Short neck, Vertebral clefting, Renal h...	OMIM:616854
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Toe syndactyly, Recurrent urinary tract infections, Aplasia of the 3rd finger...	OMIM:619218
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Overlapping toe, Proximal placement of thumb, Unilateral renal agenesis, Tapered fin...	ORPHA:487796
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Ectopic kidney, Short neck, High, narrow palate, Renal cyst, High pa...	OMIM:122470
Neu-Laxova Syndrome 2	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Spina bifida, Short neck, Cleft palate, Hi...	OMIM:616038
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Short neck, Short metatarsal, Femoral bowing, Tibial bowing, Short me...	OMIM:304120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Death in infancy, Multicystic kidney dysplasia, Hydrou...	ORPHA:2241
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Tracheoesophageal fistula, Cleft pa...	ORPHA:2745
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft pal...	OMIM:602418
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Proteinuria, Primary amenorrhea, Bilateral renal agenesis, Bicornuate uterus, Va...	OMIM:191830
Suleiman-El-Hattab Syndrome	Cryptorchidism, Polydactyly, High palate, Clinodactyly, Hydronephrosis, Brachydactyly	OMIM:618950
Camptobrachydactyly	Syndactyly, Urinary incontinence, Septate vagina, Short toe, Hand polydactyly, Congenital finger ...	OMIM:114150
Phocomelia, Schinzel Type	Hypoplasia of penis, Short neck, High, narrow palate, Abnormal tibia morphology, Foot oligodactyl...	ORPHA:2879
Mosaic Trisomy 1	Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Rocker bottom foot, Camp...	ORPHA:1692
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Crypto...	OMIM:263750
8P Inverted Duplication/Deletion Syndrome	Short neck, Precocious puberty, Cryptorchidism, Long fingers, High, narrow palate, Hip dislocatio...	ORPHA:96092
Joubert Syndrome 20	Postaxial polydactyly, 4-5 toe syndactyly, Renal cyst	OMIM:614970
Frontometaphyseal Dysplasia 1	Increased density of long bone diaphyses, High palate, Dislocated radial head, Arachnodactyly, In...	OMIM:305620
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Tethered cord, Sandal gap, Macrodactyly, Lower limb asymmetry, Renal hypoplasia, Spinal dysraphis...	OMIM:612918
22Q11.2 Deletion Syndrome	Short neck, Anorectal anomaly, Gastroesophageal reflux, Abnormality of the uterus, Vesicoureteral...	ORPHA:567
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the phalanges ...	ORPHA:1112
Smith-Magenis Syndrome	Toe syndactyly, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Abnormal...	ORPHA:819
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Talipes, Micromelia, Hydroceph...	ORPHA:1908
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Thoracolumbar scoliosis, Preaxial hand polydactyly, Renal hypoplasia, Hypertrophy of the urinary ...	OMIM:601389
Coffin-Siris Syndrome	Hypospadias, Cryptorchidism, Horseshoe kidney, Short 5th finger, Scoliosis, Clinodactyly	ORPHA:1465
Hajdu-Cheney Syndrome	Hypospadias, Intestinal malrotation, Kyphoscoliosis, Short neck, Cryptorchidism, Tall lumbar vert...	OMIM:102500
Igg4-Related Retroperitoneal Fibrosis	Low back pain, Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular...	ORPHA:49041
Au-Kline Syndrome	Sacral dimple, Overlapping toe, Thoracolumbar scoliosis, Postaxial polydactyly, Coxa valga, Crypt...	OMIM:616580
Cystic Fibrosis	Absent vas deferens, Meconium ileus, Malabsorption, Rectal prolapse, Nephrolithiasis, Steatorrhea	ORPHA:586
Koolen-De Vries Syndrome	Vertebral fusion, Recurrent urinary tract infections, Sacral dimple, Prominent fingertip pads, Cr...	OMIM:610443
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Tapered finger, Cryptorchidism, 2-3 toe syndactyly, Anteriorly placed anus, High...	OMIM:618653
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Cryptorchidism, Unilateral renal agenesis	OMIM:620024
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Short neck, High, narrow p...	ORPHA:373
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Bladder trabeculation, Cleft palate, Hy...	OMIM:614080
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Intestinal malrotation, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly,...	OMIM:617866
Noonan Syndrome 4	Ureteral duplication, Short neck, Cryptorchidism, Scoliosis, Hydronephrosis	OMIM:610733
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Cryptorchidism, Cleft palate, Furrowed tongue, Macroglossia, Branchial anomaly, Vertebral segment...	ORPHA:453499
Neurofaciodigitorenal Syndrome	Abnormal distal phalanx morphology of finger, Unilateral renal agenesis, Cryptorchidism, Triphala...	ORPHA:2673
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Hyperlordosis, Small hand, Cleft palate, Anteriorly placed anus, Ca...	OMIM:619980
Meckel Syndrome, Type 2	Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Meni...	OMIM:603194
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Renal agenesis, Hypospadias, Cryptorchidism, Renal hypo...	ORPHA:171839
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia, Cleft palate	OMIM:236110
Neurooculorenal Syndrome	Hypoplasia of the bladder, Intestinal malrotation, Unilateral renal agenesis, Short hallux, Crypt...	OMIM:620305
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Rectal prolapse, High palate, Clin...	ORPHA:235
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Multicystic kidney dys...	ORPHA:1318
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Increased density of long bones, Short neck, Tibial bowing, Micropenis, Ureteral s...	OMIM:269150
Fanconi Anemia, Complementation Group F	Sacral dimple, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia of the radius, 2-3 finger sy...	OMIM:603467
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Death in infancy, Short neck, Cryptorchidism, Postaxial hand polydactyly, Cleft palate, High pala...	OMIM:235255
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Limited mobility of proximal interphalangeal joint, Testicular a...	OMIM:222300
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Koolen-De Vries Syndrome Due To A Point Mutation	Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads,...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Fetal pyelectasis, Calcaneovalgus deformity, Positional foot deformity, Prominent fingertip pads,...	ORPHA:363958
Cardiospondylocarpofacial Syndrome	Carpal synostosis, Tarsal synostosis, Horseshoe kidney, Cone-shaped epiphysis, Fused cervical ver...	OMIM:157800
Fowler Urethral Sphincter Dysfunction Syndrome	Dysuria, Urinary incontinence, Abnormality of the urethra, Polycystic ovaries, Urinary retention,...	ORPHA:2795
Apert Syndrome	Delayed epiphyseal ossification, Cutaneous finger syndactyly, Broad distal phalanx of the thumb, ...	OMIM:101200
Meckel Syndrome 13	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:617562
Diamond-Blackfan Anemia	Renal agenesis, Hypospadias, Cleft soft palate, Short neck, Absent thumb, Short thumb, Partial du...	ORPHA:124
X-Linked Dominant Chondrodysplasia Punctata	Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Neonatal epiphysea...	ORPHA:35173
Penile Agenesis	Urethral atresia, male, Hydroureter, Rectal fistula, Cryptorchidism, Fetal pyelectasis, Bilateral...	ORPHA:49
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Toluene Embryopathy	Cryptorchidism, Hydronephrosis, Abnormal localization of kidney, Tapered finger	ORPHA:1920
Say Syndrome	Ulnar deviation of the 3rd finger, Tapered finger, Proximal renal tubular acidosis, Cleft palate,...	OMIM:181180
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cryptorchidism, Short foot, Hand polydactyly, Broad thumb, ...	ORPHA:250989
Fanconi Anemia, Complementation Group R	Radial dysplasia, Absent thumb, Scoliosis, Pelvic kidney, Anal atresia	OMIM:617244
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud...	ORPHA:73246
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcino...	OMIM:615398
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Cryptorchidism, 2-3 toe cutaneous syndactyly, Renal hypoplasia, Renal cyst, Cleft ...	OMIM:618454
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Cryptorchidism, Pyloric stenosis, Renal cy...	ORPHA:261494
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Ventral shortening of foreskin, Cryptorchidism, Esophageal atresia, Cleft palate, ...	ORPHA:95706
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Short neck, Hypoplastic iliac wing, Micropenis, Short p...	OMIM:263650
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Multicystic kidney dysplasia, Small scrotum, Brachydactyly,...	ORPHA:97360
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Kyphosis, Submucous cleft hard palate, Hemivertebrae, Small ...	OMIM:617140
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Short neck, Cryptorchid...	OMIM:257300
Neu-Laxova Syndrome	External genital hypoplasia, Spina bifida, Micromelia, Submucous cleft hard palate, Cleft palate,...	ORPHA:2671
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Stankiewicz-Isidor Syndrome	Ureteral duplication, Sacral dimple, Hypospadias, Absent thumb, Cryptorchidism, Short thumb, 2-3 ...	OMIM:617516
Methylmalonic Acidemia With Homocystinuria Type Cblf	Cleft palate, Methylmalonic aciduria, Glossitis, Unilateral renal agenesis	ORPHA:79284
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal...	OMIM:611561
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Hip dislocation, Polycystic kidney dysplasia, Short neck	OMIM:608776
Atelosteogenesis Type I	Short femur, Malrotation of colon, Abnormal ossification involving the femoral head and neck, Abn...	ORPHA:1190
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus add...	ORPHA:261349
46,Xy Ovotesticular Difference Of Sex Development	Bifid scrotum, Ambiguous genitalia, True hermaphroditism, Abnormal labia morphology, Fused labia ...	ORPHA:325345
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Renal hypoplasia, Abnormality of the vertebral column, Stillbirth...	OMIM:276950
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Primary amenorrhea...	ORPHA:168563
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Postaxial polydactyly, Short neck,...	OMIM:619879
46,Xy Sex Reversal 11	Abnormal internal genitalia, Primary amenorrhea, Vanishing testis, Aplasia of the uterus, Gonadal...	OMIM:273250
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Hypospadias, Overlapping toe, Kyphosis, High, narrow palate, Deviation of the ...	ORPHA:464738
46,Xx Sex Reversal 4	Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am...	OMIM:617480
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Chondrodysplasia Punctata 2, X-Linked Dominant	Kyphoscoliosis, Short neck, Postaxial polydactyly, Hemivertebrae, Punctate vertebral calcificatio...	OMIM:302960
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Abnormal pelvis bone ossification, P...	ORPHA:93271
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Cleft palate, Slender long bone, Vesicoureteral reflux, Hydronephrosis, Brachydactyly	OMIM:618265
Genitopatellar Syndrome	Small scrotum, Congenital hip dislocation, Anteriorly placed anus, Micropenis, Short phalanx of f...	OMIM:606170
Faciocardiorenal Syndrome	Cleft palate, Horseshoe kidney	ORPHA:1973
8Q24.3 Microdeletion Syndrome	Branchial cyst, Long toe, Thoracic scoliosis, Congenital hip dislocation, Short femur, Abnormalit...	ORPHA:508488
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Stil...	OMIM:614922
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Cryptorchidism, Abnormal femur morphology, Abnormal localiz...	ORPHA:3429
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Esophageal stricture, Gastrointestinal inflammation, Abnormality of the urina...	ORPHA:79409
Frontometaphyseal Dysplasia	Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phalanx of finger, Bifid uvul...	ORPHA:1826
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Aredyld Syndrome	Abnormal pelvic girdle bone morphology, Abnormality of the ureter, Scoliosis, Brachydactyly	ORPHA:1133
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Kyphosis, Renal ...	ORPHA:90324
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Bow...	OMIM:272460
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Renal dysplasia, Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislocatio...	OMIM:300968
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Median cleft lip and palate, Intestinal malrotation, Hamartoma of tongue, S...	OMIM:269860
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Finger syndactyly, Small scrotum, Toe syndactyly, Hyperlordosis, Abnormality of the ureter, Bilat...	ORPHA:3253
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome	Vaginal fistula	ORPHA:2597
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Neu-Laxova Syndrome 1	Micromelia, Short neck, Calcaneovalgus deformity, Neonatal death, Finger syndactyly, Spina bifida...	OMIM:256520
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, Abnormal form of the vertebral bodi...	ORPHA:818
Coffin-Siris Syndrome 12	Hypospadias, Hip subluxation, Cryptorchidism, Short thumb, Slender finger, Velopharyngeal insuffi...	OMIM:619325
Pseudotrisomy 13 Syndrome	Encephalocele, Renal agenesis, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, Renal h...	OMIM:264480
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Ambiguous genitalia, A...	ORPHA:847
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clin...	OMIM:136140
Cystic Echinococcosis	Abnormality of the testis size, Renal cyst, Membranous nephropathy, Ovarian cyst, Abnormality of ...	ORPHA:400
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Meningocele, Renal cyst, Glossoptosis, Clinodactyly of the 5th finger	ORPHA:2031
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Abnormality of the upper urinary tract, Kyphosis, Postaxial han...	ORPHA:2916
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Tetraploidy	Radial club hand, Hydronephrosis, Cleft palate, Renal hypoplasia/aplasia	ORPHA:3305
Schinzel-Giedion Syndrome	Short neck, Renal cyst, Tibial bowing, Anteriorly placed anus, High palate, Micropenis, Streak ov...	ORPHA:798
Dyskeratosis Congenita, X-Linked	Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Urethral stenosis, Horseshoe kidney,...	OMIM:305000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Short neck, Abnormal finger morphology, Abnormal form of...	ORPHA:2636
Meckel Syndrome, Type 1	Occipital encephalocele, External genital hypoplasia, Short neck, Ambiguous genitalia, female, Lo...	OMIM:249000
Polysyndactyly With Cardiac Malformation	Syndactyly, Preaxial hand polydactyly, Duplication of phalanx of hallux, Renal cyst, Stillbirth, ...	OMIM:263630
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly,...	OMIM:619269
Triploidy	Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short neck, Cryptorc...	ORPHA:3376
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Median cleft lip and palate, Proteinuria, Talipes, Short neck...	ORPHA:2162
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Hallermann-Streiff Syndrome	Spina bifida, Hyperlordosis, Cryptorchidism, Metaphyseal widening, High, narrow palate, Narrow pa...	OMIM:234100
Meckel Syndrome, Type 4	Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Re...	OMIM:611134
Fanconi Anemia, Complementation Group B	Death in infancy, Hypergonadotropic hypogonadism, Renal agenesis, Short neck, Absent thumb, Esoph...	OMIM:300514
C Syndrome	Short metacarpal, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Hip dislocation, Re...	OMIM:211750
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Diethylstilbestrol Syndrome	Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A...	ORPHA:1916
Distal Deletion 12Q	Unilateral cryptorchidism, Broad hallux, Kyphoscoliosis, Ectopic kidney, Short neck, Overlapping ...	ORPHA:96149
Dextrocardia	Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Abnormal reproductive system mo...	ORPHA:1666
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Hydroureter, Abnormal form of the vertebral bodies,...	ORPHA:1458
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Cryptorchidism, Kyphosis, Small han...	ORPHA:3121
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, High palate, Clinodactyly of the 5th finger, Pelvic kid...	OMIM:619522
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Transverse vaginal septum, Xerostomia, Ureterocele, Vesicoureteral reflu...	OMIM:129900
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Rocker bottom foot, Protruding tongue, Metatarsus adductus, Cryptorchidism, High, na...	OMIM:214100
Digeorge Syndrome	Renal insufficiency, Pilonidal sinus, Unilateral renal agenesis, High, narrow palate, Cleft palat...	OMIM:188400
Floating-Harbor Syndrome	Short neck, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Dislocated radial head, Short m...	ORPHA:2044
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cyst, Renal cell carcinoma, Large intestinal polyposis, Colon cancer	OMIM:135150
Femoral-Facial Syndrome	Short fourth metatarsal, Hemivertebrae, Micropenis, Dysplastic sacrum, Cryptorchidism, Absent ver...	OMIM:134780
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Male infertility, Hypospadias, Precocious puberty in females, Bilateral cryptorchi...	ORPHA:90793
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia, Renal hypoplasia/aplasia	OMIM:267400
Peroxisome Biogenesis Disorder 2A (Zellweger)	Metatarsus adductus, Cryptorchidism, Cleft palate, Death in childhood, Aminoaciduria, Polycystic ...	OMIM:214110
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Tapered finger, Pyloric stenosis, Nephrolithiasis, Hip dysplasia, Clinodactyly of th...	OMIM:617219
Recombinant 8 Syndrome	Small scrotum, Abnormality of the kidney, Camptodactyly of finger, Cryptorchidism, Patellar aplas...	ORPHA:96167
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Neurogenic bladder, Anal stenosis, Abnormal odontoid process morphology, Block ...	OMIM:613686
Melnick-Needles Syndrome	Short humerus, Ureteral stenosis, Hypoplastic scapulae, Anterior concavity of thoracic vertebrae,...	OMIM:309350
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
2Q37 Microdeletion Syndrome	Finger syndactyly, Multicystic kidney dysplasia, Short metacarpal, Toe syndactyly, Short neck, Py...	ORPHA:1001
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Intestinal malrotation, Cryptorchidism, Cleft palate, Hydronephrosis, Brachydactyly	ORPHA:457193
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Short neck, Shortening of all distal phalanges of the fingers, Anteriorly ...	ORPHA:247262
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Triphalangeal thumb, Vesicoureteral reflux, 2-4 finger syndactyl...	OMIM:107480
Peutz-Jeghers Syndrome	Rectal prolapse, Abnormality of the ureter, Clubbing, Multiple gastric polyps, Hamartomatous poly...	OMIM:175200
Coffin-Siris Syndrome 1	Ectopic kidney, Prominent interphalangeal joints, High palate, Prominent fingertip pads, Clinodac...	OMIM:135900
Congenital Disorder Of Glycosylation, Type Ia	Death in infancy, Villous atrophy, Premature ovarian insufficiency, Proteinuria, Hypergonadotropi...	OMIM:212065
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Congenital shortened sma...	OMIM:300048
Joubert Syndrome 2	Encephalocele, Renal insufficiency, Postaxial hand polydactyly, Renal cyst, Postaxial foot polyda...	OMIM:608091
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Premature thelarche, Bilateral cryptorchidism, High...	OMIM:180849
Schwartz-Jampel Syndrome	Micromelia, Short neck, Coxa vara, High palate, Death in infancy, Abnormally ossified vertebrae, ...	ORPHA:800
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Polycystic kidney dysplasia	OMIM:614859
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Ureteral duplication, Renal insufficiency, Death in infancy, Tapered toe, Long-chain di...	OMIM:608836
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short neck, Renal hypoplasia/aplasia, High, narrow ...	ORPHA:3015
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Cryptorchidism, Genu valgum, Micropenis, Hydronephrosis, Duo...	OMIM:617798
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Arachnodactyly, Aganglionic megacolon, Ky...	ORPHA:261222
Aicardi Syndrome	Block vertebrae, Proximal placement of thumb, Spina bifida, Precocious puberty, Hiatus hernia, He...	OMIM:304050
Mesomelia-Synostoses Syndrome	Ulnar deviation of the hand, Abnormal vertebral morphology, Progressive forearm bowing, Micromeli...	OMIM:600383
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst	OMIM:617056
Kabuki Syndrome 1	Crossed fused renal ectopia, Congenital hip dislocation, Anal stenosis, Intestinal malrotation, P...	OMIM:147920
Trisomy 8P	Short fourth metatarsal, Short neck, Fetal pyelectasis, Nephrocalcinosis, Clinodactyly of the 5th...	ORPHA:264450
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Hydroureter, Proportionate shortening of all digits, Short neck, Tapered finger, S...	ORPHA:280633
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Renal hypoplasia/aplasia, Hand oligodactyly, Abnormal form of the vertebral bo...	ORPHA:1788
Webb-Dattani Syndrome	Neurogenic bladder, Cryptorchidism, Hip dislocation, Hyposthenuria, Vesicoureteral reflux, Hydron...	OMIM:615926
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Igg4-Related Aortitis	Low back pain, Intestinal obstruction, Hydronephrosis	ORPHA:449400
Premature Ovarian Failure 13	Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Satoyoshi Syndrome	Hyperlordosis, Tapered finger, Abnormality of the humerus, Abnormal femur morphology, Amenorrhea,...	ORPHA:3130
Robinow Syndrome, Autosomal Dominant 1	Short neck, Clitoral hypoplasia, High palate, Short palm, Micropenis, Duplication of the distal p...	OMIM:180700
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, High palate, Clinodacty...	ORPHA:3103
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptorchidism...	OMIM:300219
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Crypto...	ORPHA:289
Alg9-Cdg	Hypoplasia of the bladder, Villous atrophy, Ureteral hypoplasia, Hepatic cysts, Short neck, Flare...	ORPHA:79328
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Ectopic kidney, Absent radius, Preaxial hand polydactyly, Short ...	ORPHA:233
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Aort...	ORPHA:210122
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Meckel Syndrome, Type 3	Occipital encephalocele, Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, ...	OMIM:607361
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Ulnar bowing, Abnormal renal morphology, Humeroradial synosto...	OMIM:207410
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Intestinal malrotation, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyl...	OMIM:263520
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis, Scoliosis, Protruding tongue	OMIM:619179
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Abnormality of the upper urinary tract, Abnormality of the urethra, Split hand...	ORPHA:2145
Congenital Disorder Of Glycosylation, Type Ib	Villous atrophy, Renal cyst, Death in childhood, Proximal tubulopathy, Protein-losing enteropathy...	OMIM:602579
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:168558
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Hip dislocation, Abnormal curvature of the vertebral column, Pyeloneph...	ORPHA:90348
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short neck, Postaxial polydactyly, Hamartoma of tongue, Anencephaly, Preaxial ...	OMIM:616546
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Clitoral hypertrophy, Renal salt wasting, Female external genitalia in individual with 46,XY kary...	ORPHA:289548
Hennekam Syndrome	Finger syndactyly, Camptodactyly of finger, Malabsorption, Ectopic kidney, Pyloric stenosis, Hors...	ORPHA:2136
Cerebellar-Facial-Dental Syndrome	Short neck, Tapered finger, Cryptorchidism, Slender long bone, Scoliosis, Ureteropelvic junction ...	ORPHA:444072
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Precocious puberty, High, narrow palate, Hypercalciuria, Renal cyst, Upper limb undergrowth, Neph...	ORPHA:369837
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Hypoplasia of penis, Camptodactyly of finger, Abnormality of t...	ORPHA:3138
Netherton Syndrome	Aminoaciduria, Malabsorption, Hydronephrosis, Ectopic kidney	ORPHA:634
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Esophageal neoplasm, Clubbing o...	ORPHA:2198
X-Linked Intellectual Disability, Snyder Type	Long toe, Hypospadias, Arachnodactyly, Kyphoscoliosis, Ectopic kidney, Cryptorchidism, Kyphosis, ...	ORPHA:3063
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Sacral dimple, Hip contracture, Internally rotated shoul...	OMIM:619503
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Hydrolethalus Syndrome 1	Hypospadias, Bifid uterus, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ...	OMIM:236680
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Vertebral segmentation defect, Ureter...	ORPHA:2911
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Short neck, Hemivertebrae, Femoral bowing, Anteriorly displaced genitalia, Foot ol...	OMIM:276820
Joubert Syndrome 14	Encephalocele, Postaxial polydactyly, Meningocele, Cleft palate, Renal cyst	OMIM:614424
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Cryptorchidism, Long fingers, High palate, Finger joint hypermobility,...	OMIM:617557
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Cleft soft palate, Ectopic accessory finger-like appendage, High, narrow p...	ORPHA:2919
Occipital Horn Syndrome	Short humerus, Pelvic bone exostoses, Ureteral obstruction, Coxa valga, Kyphosis, Capitate-hamate...	OMIM:304150
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cleft palate, Short 5th finger...	OMIM:220500
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Sacral dimple, Postaxial polydactyly, Renal hypoplasia, Renal cyst, Scolios...	OMIM:618460
Bardet-Biedl Syndrome 1	Syndactyly, Aganglionic megacolon, Abnormality of the kidney, Postaxial polydactyly, High, narrow...	OMIM:209900
Neurofibromatosis, Type I	Spina bifida, Aqueductal stenosis, Hydrocephalus, Tibial pseudarthrosis, Genu valgum, Hypertensio...	OMIM:162200
Fg Syndrome Type 1	Finger syndactyly, Pes planus, Broad toe, Hypospadias, Sacral dimple, Abnormal large intestine mo...	ORPHA:93932
Proboscis Lateralis	External genital hypoplasia, Unilateral renal agenesis, Ureteral agenesis, Duplication of renal p...	ORPHA:141099
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Hydroureter, Hypospadias, Intestinal malrotation, Esophageal atresia, Dilatation of the renal pel...	OMIM:265380
Peters Plus Syndrome	Ureteral duplication, Short neck, Clitoral hypoplasia, Clinodactyly of the 5th finger, Spina bifi...	ORPHA:709
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Malrotation of...	ORPHA:139466
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Microcolon, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, 2-3 toe syndactyly, Cleft palate, Micropenis, Vaginal dryness	OMIM:106260
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, 3-4 finger cutaneous syndactyl...	OMIM:181270
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Epispadias, Abnormality of the ure...	ORPHA:3339
Meier-Gorlin Syndrome 7	Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi...	OMIM:617063
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Irregular iliac crest, Unilateral ren...	ORPHA:99646
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Pyloric stenosis, Cleft palate, Hand polydactyly, Scoliosis, Abnorm...	ORPHA:261197
Brain Malformations With Or Without Urinary Tract Defects	Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis	OMIM:613735
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Chronic Mucocutaneous Candidiasis	Hematuria, Dyspareunia, Recurrent urinary tract infections, Abnormal vagina morphology	ORPHA:1334
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Death in infancy, Proteinuria, Pancreatic cysts, Chr...	OMIM:208500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Postaxial polydactyly, Cryptorch...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Postaxial polydactyly, Cryptorch...	ORPHA:352665
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short neck, Short metatarsal, Renal cyst, High palate, Nephronophthisis, Cl...	OMIM:266920
Raine Syndrome	Death in infancy, Bowing of the long bones, Hydroureter, Short neck, Protruding tongue, Cleft pal...	OMIM:259775
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Malabsorption, A...	ORPHA:537
3Mc Syndrome 1	Sacral dimple, Single interphalangeal crease of fifth finger, Cleft palate, Short foot, Radioulna...	OMIM:257920
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Syndactyly, Lumbar hyperlordosis, Hypospadias, Cryptorchidism, Renal cyst, Furrowed tongue, Hip d...	OMIM:616975
Fraser Syndrome 1	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Hypospadias,...	OMIM:219000
Meckel Syndrome	Encephalocele, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Bowing o...	ORPHA:564
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Urinary bladder inflammation, Congenital pyloric atresia, Hydronephrosis, Hem...	ORPHA:79403
Craniofacioskeletal Syndrome	Hypospadias, Cryptorchidism, Small hand, Cleft palate, Short foot, Short palm, Clinodactyly of th...	OMIM:300712
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Androgen Insensitivity Syndrome	Female external genitalia in individual with 46,XY karyotype, Blind vagina, Primary amenorrhea, L...	OMIM:300068
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Hypospadias, Metatarsus adductus, Cryptorchidism, Renal cyst, Cleft palate, Dea...	OMIM:614866
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short neck, Bilateral cryptorchidism, Coronal hypospadias, Esophageal atresia, Tracheoesophageal ...	OMIM:619859
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Renal agenesis, Absent external genitalia, Cleft palate, Urethr...	OMIM:273395
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Abnormality of the urethra, Congenital pyloric atresia, Abnormality of the urina...	ORPHA:158684
Okamoto Syndrome	Exaggerated median tongue furrow, Anal stenosis, Urinary incontinence, Intestinal malrotation, Bi...	ORPHA:2729
Pentalogy Of Cantrell	Encephalocele, Renal agenesis, Hypospadias, Abnormal tibia morphology, Split hand, Anencephaly, C...	ORPHA:1335
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Azoo...	OMIM:614837
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Preaxial hand polydactyly, High palate, Hydronephrosis	ORPHA:1297
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Hydronephrosis	OMIM:620327
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Short neck, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal...	ORPHA:495875
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Tapered finger, Bilateral cleft lip and palate, High palate, Clinod...	OMIM:618829
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Neurogenic bladder, Short neck, Protruding tongue, Overlapping fingers, Hydrone...	OMIM:608779
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Cryptorchid...	ORPHA:1606
Miller-Dieker Lissencephaly Syndrome	Sacral dimple, Cryptorchidism, Cleft palate, Polydactyly, Camptodactyly, Clinodactyly of the 5th ...	OMIM:247200
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged...	ORPHA:3404
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Sept...	ORPHA:1319
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short neck, Delayed epiphyseal ossification, Preaxial polydactyly, Renal cyst, Femoral bowing, De...	OMIM:210710
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Arachnodactyly, Bilateral renal dysplasia, Unilateral renal agenesis, Kypho...	ORPHA:500150
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Hypoplasia of the uterus, Hypo...	OMIM:614841
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Renal insufficiency, Small cervical vertebral bodies, Hypospadias, Abnor...	ORPHA:397715
Noonan Syndrome 9	Cryptorchidism, Hydroureter, Short neck	OMIM:616559
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	High palate, Hydronephrosis, Cleft palate	ORPHA:488613
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Renal cyst, Death in infancy	OMIM:614862
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Cryptorchidism, Kyphosis, Long fingers, 2-3 toe syn...	OMIM:300960
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Deformed humerus, Abnormalit...	ORPHA:2975
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, Exaggerated ...	OMIM:312870
Congenital Myopathy 17	Overlapping toe, Tapered finger, Clinodactyly, Renal hypoplasia, Cleft palate, High palate, Overl...	OMIM:618975
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme...	ORPHA:1896
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst	OMIM:611773
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Duplication of thumb phalanx, Abnormality of the upper urinary tract, Short neck, Sc...	ORPHA:2995
Oculoskeletodental Syndrome	Renal agenesis, Cryptorchidism, Hypercalciuria, Macroglossia, Mucopolysacchariduria, Thoracic kyp...	OMIM:618440
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Short neck, Cryptorchidism, Submucous cleft hard palate, Genu valgum...	ORPHA:1340
Mycophenolate Mofetil Embryopathy	Ectopic kidney, Tracheoesophageal fistula, Bifid thoracic vertebrae, Foot polydactyly, Short palm	ORPHA:268249
Encephalocraniocutaneous Lipomatosis	Cryptorchidism, Pelvic kidney, Hydronephrosis	OMIM:613001
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidi...	ORPHA:99429
Seckel Syndrome 7	Abnormal carpal morphology, Primary amenorrhea, Hypoplasia of the uterus, Hip dysplasia, Lumbar s...	OMIM:614851
Isolated Epispadias	Urinary incontinence, Epispadias, Anteriorly displaced urethral meatus, Abnormal pelvic girdle bo...	ORPHA:93928
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Trisomy 10P	Thumb contracture, Abnormality of the kidney, Short toe, Hemivertebrae, Multiple renal cysts, Rec...	ORPHA:171929
Alveolar Echinococcosis	Low back pain, Abnormal pelvis bone morphology, Pancreatic cysts, Renal cyst, Abnormal bladder mo...	ORPHA:284
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Esophageal atresia, Hemivertebrae, Tracheoesoph...	ORPHA:77298
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, Cryptorchidis...	ORPHA:163979
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Preaxial ...	ORPHA:2549
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Long toe, Overlapping toe, Large placenta, Macroglossia, Camptodactyly, Umbilical hernia, Flexion...	ORPHA:254528
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Hyperparathyroidism 2 With Jaw Tumors	Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren...	OMIM:145001
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Brachydactyly, Ectopic kidney, Cryptorchidism, Short toe, Shawl scrotum, Clino...	ORPHA:1519
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Renal agenesis, Hypogonadotropic hypogonadism, Cryptorchidism, ...	ORPHA:478
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
Familial Visceral Myopathy	Hydroureter, Arachnodactyly, Camptodactyly of finger, Aganglionic megacolon, Megacystis, Cleft pa...	ORPHA:2604
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Sandal gap, Pyloric stenosis, Rectal prolapse, Gastroesophageal reflux, Multipl...	OMIM:613177
Joubert Syndrome With Oculorenal Defect	Encephalocele, Renal insufficiency, Aganglionic megacolon, Hydrocephalus, Hand polydactyly, Foot ...	ORPHA:2318
Ulnar-Mammary Syndrome	Deformed radius, Small scrotum, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Apl...	OMIM:181450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Portal hypertension, Megacystis, Hydronephrosis, Microcolon	OMIM:619431
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft ...	OMIM:243605
Orofaciodigital Syndrome I	Syndactyly, Proteinuria, Hamartoma of tongue, Pancreatic cysts, Myelomeningocele, Cleft palate, T...	OMIM:311200
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Hajdu-Cheney Syndrome	Coarse metaphyseal trabecularization, Brachydactyly, Hypospadias, Bowing of the long bones, Intes...	ORPHA:955
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R...	OMIM:270420
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hypoplasia of penis, Hypospadias, Talipes, Intestinal malrotation, Renal hypoplasi...	ORPHA:2166
Microphthalmia, Syndromic 2	Hypospadias, Broad hallux, Septate vagina, Sandal gap, Cryptorchidism, 2-3 toe cutaneous syndacty...	OMIM:300166
Knobloch Syndrome 1	Duplicated collecting system, Occipital encephalocele, Pyloric stenosis, Bifid ureter, Occipital ...	OMIM:267750
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Arachnodactyly, Intestinal malrotation, Hiatus her...	OMIM:601776
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Thoracolumbar scoliosis, Hiatus hernia, Pancreatic cysts, Renal cyst, Polycystic kidney dysplasia...	OMIM:610199
Axial Osteomalacia	Renal cyst	OMIM:109130
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Rectal prolapse, Abnormal tubulointerstitial morpholo...	ORPHA:904
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Anal stenosis, Arachnodactyly, Intestinal malrotation, Osteopathia ...	OMIM:300373
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Scoliosis, Displacement of the u...	ORPHA:1556
Xanthinuria, Type I	Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis	OMIM:278300
Joubert Syndrome 1	Protruding tongue, Postaxial hand polydactyly, Renal cyst, Occipital myelomeningocele, Postaxial ...	OMIM:213300
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Nephrolithiasis, Renal c...	ORPHA:99880
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Atelosteogenesis, Type I	Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vertebral hypoplas...	OMIM:108720
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Visceral Myopathy 1	Aganglionic megacolon, Intestinal pseudo-obstruction, Microcolon, Megacystis, Urinary retention, ...	OMIM:155310
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Renal insufficiency, Multicystic kidney dysplasia, Postaxial hand polyda...	ORPHA:1454
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Fat malabsorption, Renal cyst, Steatorrhea	ORPHA:79303
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Nephrolithiasis, Renal c...	ORPHA:143
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Abnormal thumb morphology, Metatarsus adductus, ...	ORPHA:500095
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida, Tapered finger, Gastroesophageal reflux, Scoliosis, Bifid uvula	OMIM:619480
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Pes planus, Dysphagia, Branchial anomaly, Pelvic kidney, Gastroesophageal reflux, Pes valgus, Sho...	ORPHA:466950
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar...	OMIM:617247
Cornelia De Lange Syndrome	Hypoplasia of penis, Proximal placement of thumb, Short neck, High palate, Abnormality of the ute...	ORPHA:199
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Abnormal pelvis bone morphology, Abnormality of the kidney, Abnormality of the upper...	ORPHA:2273
Ring Chromosome 13 Syndrome	Bifid scrotum, Aplasia/Hypoplasia of the thumb, Hypospadias, Partial absence of foot, Short neck,...	ORPHA:96176
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf...	ORPHA:449395
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Abnormal epiphysis morphology, Abnor...	ORPHA:35687
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	External genital hypoplasia, Short neck, Hemivertebrae, Tibial bowing, Hepatoblastoma, Short tibi...	ORPHA:96334
Phelan-Mcdermid Syndrome	Sacral dimple, Abnormality of the kidney, 2-3 toe syndactyly, High palate, Clinodactyly of the 5t...	OMIM:606232
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria,...	ORPHA:900
Beta-Ureidopropionase Deficiency	Bifid scrotum, Anal atresia, Bladder exstrophy, Scoliosis	OMIM:613161
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Arachnodactyly, Overlapping toe, Cryptorchidism, Contracture of the distal interphalangeal joint ...	ORPHA:83617
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Tricuspid stenosis, Right ventricular fail...	ORPHA:100078
Osteogenesis Imperfecta, Type Vii	Death in infancy, Crumpled long bones, Protrusio acetabuli, Femoral retroversion, Bowing of the l...	OMIM:610682
Elsahy-Waters Syndrome	Bifid scrotum, Anal stenosis, Hypospadias, Bilateral cryptorchidism, Abnormality of the anus, Sho...	OMIM:211380
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Short toe, Cutaneous syndactyly, U...	OMIM:617667
Multiple Acyl-Coa Dehydrogenase Deficiency	Hyperlordosis, Glutaric aciduria, Lacticaciduria, 3-Methylglutaric aciduria, Ethylmalonic aciduri...	ORPHA:26791
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Epiphyseal dysplasia, Congenital hip dislocation, Renal hypoplasia, Nephrocalcinosis, Aminoacidur...	OMIM:617913
Epidermal Nevus Syndrome	Spinal canal stenosis, Thoracolumbar scoliosis, Polycystic kidney dysplasia	ORPHA:35125
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal curvature of the vertebral column, Gastroesophageal reflux, Cervical cord compression, V...	ORPHA:353281
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis, Esophagitis, Drumstick terminal phalanges	ORPHA:541423
Sotos Syndrome	Ureteral duplication, Vesicoureteral reflux, Abnormal vertebral morphology, Hypospadias, Abnormal...	ORPHA:821
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Short neck, Submucous cleft hard palate, High palate, Sc...	OMIM:115150
Oculocerebrorenal Syndrome Of Lowe	Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Death in infancy, Cryptorchi...	ORPHA:534
Orofaciodigital Syndrome Type 1	Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid...	ORPHA:2750
Arima Syndrome	Proteinuria, Polyuria, Postaxial hand polydactyly, Esophageal varix, Stage 5 chronic kidney disea...	OMIM:243910
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Perianal abscess, Cryptorchidism, Urachus fistula, Cleft pala...	OMIM:612541
Hypomelia With Mullerian Duct Anomalies	Postaxial hand polydactyly, Split hand, Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Chand Syndrome	Short fifth metatarsal, Hydroureter, Cleft palate, Bifid tongue, Imperforate hymen	ORPHA:1401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Occipital encephalocele, Multicystic kidney dysplasia, Communicating h...	OMIM:615287
Microform Holoprosencephaly	Hypoplasia of penis, Renal agenesis, Cleft palate, Scoliosis, Ambiguous genitalia, Duodenal atresia	ORPHA:280200
Isolated Posterior Meningocele	Tethered cord, Thoracic hemivertebrae, Hydrocephalus, Meningocele, Lipomyelomeningocele, Absent A...	ORPHA:268810
Rhombencephalosynapsis	Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Abnormal renal morph...	ORPHA:59315
Hereditary Orotic Aciduria	Orotic acid crystalluria, Abnormality of the ureter, Aminoaciduria, Hip dysplasia, Oroticaciduria	ORPHA:30
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Female infertility, Premature ovarian insufficiency, Scoliosis	OMIM:619518
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Irregular menstruation, Hypoplasia of the ut...	OMIM:110100
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Broad 2nd toe, Clinodactyly, Cleft palate, Contracture of the proxi...	OMIM:280000
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Intestinal malrotation, Hepatic cysts, Pancreatic cysts, Stage 5 chronic kid...	OMIM:208540
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Renal salt wasting, Ambiguous genitalia, female, Abnormal ovarian physiology,...	ORPHA:90794
Renal-Hepatic-Pancreatic Dysplasia 2	Femoral bowing, Stillbirth, Enlarged kidney, Cystic renal dysplasia, Hepatic cysts	OMIM:615415
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Multiple...	OMIM:613095
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Campomelia, Cumming Type	Pancreatic cysts, Bowing of the long bones, Polycystic kidney dysplasia	OMIM:211890
Kindler Epidermolysis Bullosa	Urethral stricture, Finger syndactyly, Camptodactyly of finger, Phimosis, Esophageal stricture, N...	ORPHA:2908
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Clinodactyly, Down-sloping shoulders, Renal cyst, Tapered finger	OMIM:615560
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, 2-3 toe cutaneous syndactyly, Small ha...	ORPHA:1596
Systemic Sclerosis	Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morphology, Barrett esopha...	ORPHA:90291
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Sacral dimple, Tricuspid regurgitation, Hypospadias, Epispadias, Male ...	ORPHA:2556
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Short neck, Postaxial hand polydactyly, Hypoplasia of the small intestine, Cys...	OMIM:200995
Autosomal Recessive Spastic Paraplegia Type 20	Dysuria, Abnormal thumb morphology, Genu valgum, Clinodactyly, Hydronephrosis	ORPHA:101000
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Vesicoureteral ...	ORPHA:261537
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Mowat-Wilson Syndrome	Bifid scrotum, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Vesicoureteral ...	ORPHA:2152
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Vaginal neoplasm, Cleft palate, Colon cancer,...	ORPHA:1052
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Sandal gap, Premature ovarian insufficiency, 2...	OMIM:251260
Transketolase Deficiency	Secondary amenorrhea, Increased level of ribose in urine, Renal cyst	ORPHA:488618
Williams-Beuren Syndrome	Rectal prolapse, Nephrocalcinosis, Gastroesophageal reflux, Clinodactyly of the 5th finger, Vesic...	OMIM:194050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal curvature of the vertebral column, High palate, Vesicoureteral reflux, Abnormality of th...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal curvature of the vertebral column, High palate, Vesicoureteral reflux, Abnormality of th...	ORPHA:353277
Tuberous Sclerosis 1	Precocious puberty, Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Diamond-Blackfan Anemia 10	Renal duplication, Cleft palate, Ectopic kidney	OMIM:613309
Johanson-Blizzard Syndrome	Colonic diverticula, Hypospadias, Septate vagina, Urethrovaginal fistula, Malabsorption, Cryptorc...	OMIM:243800
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Hydronephrosis, Broad distal phalanx of finger	OMIM:609465
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Chromosome 1P36 Deletion Syndrome, Distal	Abnormal external genitalia, Hypospadias, Camptodactyly of finger, Ectopic kidney, Metatarsus add...	OMIM:607872
Chilton-Okur-Chung Neurodevelopmental Syndrome	Recurrent urinary tract infections, Crossed fused renal ectopia, Hypospadias, Short fifth metatar...	OMIM:619841
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Proximal placement of thumb, Short neck, Hyperlordosis, Cryptorchidi...	OMIM:113620
Congenital Disorder Of Glycosylation, Type It	Tachycardia, Sudden cardiac death, Dilated cardiomyopathy, Cleft palate, Hydronephrosis, Aborted ...	OMIM:614921
Von Hippel-Lindau Disease	Back pain, Elevated urinary catecholamine level, Pancreatic cysts, Papillary cystadenoma of the e...	ORPHA:892
Hereditary Acrokeratotic Poikiloderma	Finger syndactyly, Camptodactyly of finger, Abnormal preputium morphology, Abnormality of the ure...	ORPHA:2907
Chime Syndrome	Abnormality of the kidney, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi...	ORPHA:3474
Joubert Syndrome 39	Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th finger, Polycystic k...	OMIM:619562
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Small scrotum, Sandal gap, Short neck, Long fingers, Cutaneous syndactyly, Bifid uvula, High pala...	OMIM:620330
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Bowing of the legs, Long hallux, Renal cyst, Macroglossia, Nephroblastoma, Bif...	OMIM:617107
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Urinary incontinence, Cleft hard palate, Calcaneovalgus deformity, Vesicoureteral ...	ORPHA:261552
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
Monosomy 22Q13.3	Sacral dimple, Hydronephrosis, Clinodactyly of the 5th finger, Vesicoureteral reflux, Umbilical h...	ORPHA:48652
Wiedemann-Rautenstrauch Syndrome	Wide penis, Hypoplastic vertebral bodies, Vesicoureteral reflux, Dilatation of renal calices, Lon...	ORPHA:3455
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis, Intestinal malrotation	OMIM:249210
Branchioskeletogenital Syndrome	Amelia involving the lower limbs, Abnormality of the cervical spine, Abnormality of the vertebral...	ORPHA:1299
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Hallux valgus, Sacral dimple, Congenital hip dislocation, Overlapping toe, Thora...	ORPHA:480880
Cardiac-Urogenital Syndrome	Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Intestinal malrotation, Crypto...	OMIM:618280
Von Hippel-Lindau Syndrome	Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell carcinoma, Multiple renal c...	OMIM:193300
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Precocious puberty, Cryptorchidism, Nephrolithiasis, Hip dysplasia, Scoliosis, ...	ORPHA:438213
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Vertebral fusion, Hypospadias, Pseudoepiphyses of the meta...	OMIM:194190
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst...	ORPHA:157
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Ileal atresia, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery...	OMIM:619351
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, High palate, Dea...	OMIM:300661
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Anteriorly placed anus, Chordee, ...	OMIM:309801
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, High, narrow palate, Red-brown urine, Renal tubular e...	ORPHA:228308
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Tapered finger, Cleft palate, High palate, Ureteropelvic junction obstruction...	OMIM:616973
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Renal agenesis, Block vertebrae, Ectopic k...	OMIM:164210
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Adams-Oliver Syndrome 1	Encephalocele, Toe syndactyly, Cleft palate, Hypertension, Talipes equinovarus, Pulmonic stenosis...	OMIM:100300
Gabriele-De Vries Syndrome	Hallux valgus, Sandal gap, Cryptorchidism, Esophageal atresia, High palate, Finger joint hypermob...	ORPHA:506358
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Overlapping toe, Renal cyst	OMIM:617478
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Ab...	ORPHA:538
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst, Epiphyseal stippling	OMIM:601539
Mody	Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria	ORPHA:552
Histiocytoid Cardiomyopathy	Cleft palate, Renal cyst, Polycystic ovaries	ORPHA:137675
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
D-Bifunctional Protein Deficiency	Hammertoe, Split hand, High palate, Renal cyst	OMIM:261515
Beckwith-Wiedemann Syndrome	Ureteral duplication, Large placenta, Nephropathy, Cryptorchidism, Nephrolithiasis, Hypercalciuri...	ORPHA:116
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microphallus, Absent ...	ORPHA:284339
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Brachydactyly, Sandal gap, Deviation of the hallux, Short hal...	OMIM:616268
Vici Syndrome	Death in infancy, Ureteral atresia, Renal tubular acidosis, Cardiomyopathy, High palate	ORPHA:1493
Primary Ciliary Dyskinesia	Male infertility, Intestinal malrotation, Female infertility, Clubbing, Abnormal sperm motility	ORPHA:244
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility, Aplasia of the ovary	OMIM:614324
Restrictive Dermopathy	Ureteral duplication, Thoracic kyphoscoliosis, Hypospadias, Camptodactyly of finger, Structural f...	ORPHA:1662
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ovotestis, Cleft palate, Sex reversal	OMIM:611812
Fixed Drug Eruption	Vaginal mucosal ulceration	ORPHA:293812
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Cryptorchidism, Nephrolithiasis, Renal cortical cysts, Nephroca...	OMIM:130650
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst	OMIM:617260
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Multiple small medullary renal cysts, Hemiv...	OMIM:118450
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Ogden Syndrome	Global glomerulosclerosis, Congenital hip dislocation, Sandal gap, Broad hallux, Short neck, Meta...	OMIM:300855
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Toe syndactyly, Hydroureter, Proximal placement of thumb, Short neck, Cryptorchidism, Small hand,...	OMIM:610759
Ciliary Dyskinesia, Primary, 37	Female infertility	OMIM:617577
Cranioectodermal Dysplasia 2	Syndactyly, Renal insufficiency, Short neck, Postaxial hand polydactyly, Renal cyst, Cleft palate...	OMIM:613610
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Duplication of renal pelvis, Ureteral duplication, High, narrow palate, Endometrial carcinoma	ORPHA:457212
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Epididymitis, Vaginal hydro...	ORPHA:2035
Congenital Tracheal Stenosis	Abnormality of the kidney, Abnormal stomach morphology, Abnormality of the ureter, Tracheoesophag...	ORPHA:141127
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Holoprosencephaly 3	Bifid uvula, Hydronephrosis, Cleft palate	OMIM:142945
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Hyperlordosis, Renal hypoplasia/aplasia, Abnormal tibia morphology, Abnormal rena...	ORPHA:363700
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Congenital Disorder Of Glycosylation, Type If	Death in infancy, Renal cortical cysts	OMIM:609180
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Rocker bottom foot, Kyphoscoliosis, Submucous cleft hard palat...	OMIM:275210
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Hyperechogenic kidneys, Renal cyst	OMIM:615636
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, High, narrow palate, High palate, Gastroesophageal reflux...	OMIM:619472
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Vaginal dryness, Dysuria, Intestinal perforation, Xerostomia, Renal tu...	ORPHA:95455
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts	OMIM:618733
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Pulmonic stenosis, Glycosuria, Colon perforation, U...	OMIM:600001
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Thoracoabdominal Syndrome	Cleft palate, Renal agenesis, Anencephaly, Hypospadias	OMIM:313850
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Chronic Graft Versus Host Disease	Phimosis, Urinary bladder inflammation, Esophageal stricture, Xerostomia, Hematuria, Abnormal eso...	ORPHA:99921
Lipodystrophy, Congenital Generalized, Type 1	Decreased fertility in females, Labial hypertrophy, Nephrolithiasis, Polycystic ovaries, Umbilica...	OMIM:608594
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility in females, Labial hypertrophy, Nephrolithiasis, Decreased fertility, Polycys...	OMIM:269700
Mandibulofacial Dysostosis With Alopecia	Glossoptosis, Hydroureter, Cleft palate	OMIM:616367
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Early Infantile Epileptic Encephalopathy	Precocious puberty, Cleft palate, Ureterocele, Broad finger, Short finger, Umbilical hernia, Micr...	ORPHA:1934
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Dilatation of renal calices, Brachydactyly, Pelvic kidney, Short palm	ORPHA:466943
Hydatidiform Mole	Menometrorrhagia, Miscarriage, Enlarged uterus	ORPHA:99927
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Scoliosis, Renal cortical cysts	OMIM:618548
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Manitoba Oculotrichoanal Syndrome	Anteriorly placed anus, Anal stenosis, Vaginal atresia	OMIM:248450
Joubert Syndrome 5	Occipital encephalocele, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Re...	OMIM:610188
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Angina pectoris, Abnormal large intestine morphology, Narrow palate, Telang...	ORPHA:109
Liver Disease, Severe Congenital	Chronic gastritis, Recurrent urinary tract infections, Hypospadias, Hydrocele testis, Abnormal le...	OMIM:619991
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Female infertility...	ORPHA:572333
Leprechaunism	Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis, Rectal prolap...	ORPHA:508
Primary Sjögren Syndrome	Renal insufficiency, Abnormality of the kidney, Glomerulonephritis, Raynaud phenomenon, Abnormal ...	ORPHA:289390
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Mpdu1-Cdg	Renal cortical cysts	ORPHA:79323
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Knee dislocation, Gastroesophageal reflux, Neonatal death, Syndactyly, Tricu...	OMIM:619534
Mednik Syndrome	Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon	OMIM:609313
Osteopetrosis With Renal Tubular Acidosis	Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, High palate, Distal ren...	ORPHA:2785
Microphthalmia, Syndromic 1	High, narrow palate, Rectal prolapse, High palate, Prominent fingertip pads, Syndactyly, Lumbar h...	OMIM:309800
Stevens-Johnson Syndrome	Dyspareunia, Renal insufficiency, Dysuria, Abnormality of the urethra, Esophageal stricture	ORPHA:36426
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Hypovolemia, Enuresis no...	ORPHA:223
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Unilateral cleft palate, Submucous cleft hard palate, Six lumbar vertebrae	OMIM:619122
Distal Deletion 19P	Long toe, Vaginal hernia, Arachnodactyly, Cleft palate, Umbilical hernia	ORPHA:96129
Caroli Disease	Esophageal varix, Polycystic kidney dysplasia	ORPHA:53035
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Esophageal varix, Olig...	ORPHA:731
Skin Creases, Congenital Symmetric Circumferential, 2	Pes planus, Small scrotum, Hypospadias, Tapered finger, Short neck, Cryptorchidism, Long fingers,...	OMIM:616734
Syndromic Diarrhea	Villous atrophy, Gastritis, Renal hypoplasia, Colitis, Polycystic kidney dysplasia	ORPHA:84064
Pearson Syndrome	Renal insufficiency, Proteinuria, Lacticaciduria, Renal cyst, Steatorrhea, Glycosuria, Median cle...	ORPHA:699
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Hydroureter, Hydronephrosis	OMIM:212093
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, Decreased testicular si...	OMIM:610644
Woodhouse-Sakati Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, H...	OMIM:241080
Microsporidiosis	Glossitis, Urethritis, Abnormal endometrium morphology, Abnormality of the urinary system physiol...	ORPHA:2552
Castleman Disease	Abnormality of the gastrointestinal tract, Renal insufficiency, Intestinal obstruction, Hematuria...	ORPHA:160
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Premature ovarian insufficiency, Hypoplasia of th...	ORPHA:3464
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Abnormal cardiac ventricular function, Pyloric stenosis, Cong...	ORPHA:90349
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Aganglionic megacolon, Ileus, Hypogonadism, Arrhythmia, Microcolon	ORPHA:163746
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, 3-4 finger cutaneous ...	ORPHA:69085
Caroli Syndrome	Esophageal varix, Abnormality of the kidney, Polycystic kidney dysplasia	ORPHA:480520
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Bifid uterus, Abnormal reproductive system morphology, Unilateral brachydactyly, High...	ORPHA:1521
Pmm2-Cdg	Proteinuria, Hypogonadotropic hypogonadism, Kyphoscoliosis, Long fingers, Nephrotic syndrome, Pla...	ORPHA:79318
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Umbilical hernia, Ureteral duplication, Intestinal malrotation, Pulmonic stenosis	ORPHA:2255
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uvula, Cleft soft palate, Cleft palate, Bifid uterus	ORPHA:2736
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Absence of the sacrum, Ureteral stenosis, Intes...	OMIM:270100
Loeys-Dietz Syndrome	Arachnodactyly, Camptodactyly of finger, High palate, Scoliosis, Uterine rupture, Bifid uvula	ORPHA:60030
Ehlers-Danlos Syndrome, Vascular Type	Cryptorchidism, Cystocele, Foot acroosteolysis, Cervical insufficiency, Osteolytic defects of the...	OMIM:130050
Vascular Ehlers-Danlos Syndrome	Congenital hip dislocation, Hypospadias, Cryptorchidism, High, narrow palate, Cystocele, Renovasc...	ORPHA:286
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Peroxisome Biogenesis Disorder 4B	Ureterocele	OMIM:614863
Norrie Disease	Erectile dysfunction, Cryptorchidism, Scoliosis, Uterine rupture	ORPHA:649

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 Dact1

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 Dact1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Expression analysis of Dact1 in mice using a LacZ reporter.	Gene expression patterns : GEP (March 2014)	Dact1^{tm2a(EUCOMM)Hmgu}	PMC4426989

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
Dact1^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Dact1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Dact1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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