Gene: Hivep3 MGI:106589

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

human immunodeficiency virus type I enhancer binding protein 3

Synonyms:

Schnurri-3, Shn3, 2900056N03Rik, E030045D18Rik, Krc

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 Hivep3 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 Hivep3 (0 diseases)
Human diseases predicted to be associated with Hivep3 (581 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hivep3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Syndactyly Type 2	Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly...	ORPHA:93403
Syndactyly, Type Iv	Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac...	OMIM:186200
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Triphalangeal Thumb, Nonopposable	Triphalangeal thumb, Polydactyly	OMIM:190600
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Partial duplication of the distal phalanx of the hallux, Bifid distal phalanx of ...	ORPHA:2669
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Polydactyly, Preaxial Ii	Postaxial foot polydactyly, Opposable triphalangeal thumb, Syndactyly, Preaxial foot polydactyly,...	OMIM:174500
Synpolydactyly 1	Postaxial foot polydactyly, 2nd-5th toe middle phalangeal hypoplasia, 3-4 finger syndactyly, Y-sh...	OMIM:186000
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Polydactyly, Postaxial, Type A1	Postaxial foot polydactyly, Syndactyly, Preaxial foot polydactyly, Broad thumb, Postaxial hand po...	OMIM:174200
Brachydactyly, Type C	Ulnar deviation of the 3rd finger, Enlarged epiphysis of the proximal phalanx of the 2nd finger, ...	OMIM:113100
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Congenital Radioulnar Synostosis	Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi...	ORPHA:3269
Testicular Germ Cell Tumor	Choriocarcinoma, Embryonal neoplasm, Teratoma	OMIM:273300
Polydactyly, Preaxial Iv	1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange...	OMIM:174700
Gonadoblastoma	Gonadoblastoma	OMIM:424500
Testicular Germ Cell Tumor 1	Germ cell neoplasia	OMIM:300228
Gnathodiaphyseal Dysplasia	Mandibular osteomyelitis, Thickened cortex of long bones, Osteopenia, Recurrent fractures	ORPHA:53697
Polydactyly, Postaxial, Type A10	Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A	OMIM:618498
Bardet-Biedl Syndrome 11	Abnormality of the kidney, Polydactyly	OMIM:615988
Camptosynpolydactyly, Complex	Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly	OMIM:607539
Bardet-Biedl Syndrome 14	Renal insufficiency, Polydactyly	OMIM:615991
Santos Syndrome	Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad...	OMIM:613005
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Clavicular sclerosis, Generalized osteosclerosis, Abnormal cortical bo...	ORPHA:2790
Gestational Choriocarcinoma	Choriocarcinoma, Neoplasm, Trophoblastic tumor	ORPHA:99926
Hallux Varus And Preaxial Polysyndactyly	Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly	OMIM:234280
Renal Hypodysplasia/Aplasia 3	Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp...	OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome	Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm...	ORPHA:2838
Bardet-Biedl Syndrome 10	Renal insufficiency, Polydactyly, Renal cyst	OMIM:615987
Teratoma, Pineal	Polyuria, Teratoma	OMIM:273120
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias	Short thumb, Short 2nd toe, Postaxial hand polydactyly, Short 5th finger, Glandular hypospadias	OMIM:176305
Congenital Anomalies Of Kidney And Urinary Tract 3	Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl...	OMIM:618270
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology	ORPHA:1802
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Polydactyly, Preaxial Iii	Triphalangeal thumb, Preaxial polydactyly	OMIM:174600
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Congenital Absence Of Upper Arm And Forearm With Hand Present	Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Renal agenesis	ORPHA:294975
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Syndactyly Type 4	Camptodactyly of finger, Hand polydactyly, Short tibia, Toe syndactyly, 1-5 finger syndactyly, Fo...	ORPHA:93405
Bardet-Biedl Syndrome 5	Syndactyly, Micropenis, Polydactyly, Brachydactyly	OMIM:615983
Congenital Primary Megaureter	Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,...	ORPHA:617
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Deviation of finger, Hydronephrosis	ORPHA:1450
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Thickened cortex of bones, Joint stiffness, Arthritis	ORPHA:564003
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ...	OMIM:618167
Van Buchem Disease	Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis	OMIM:239100
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Serrated Polyposis Syndrome	Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta...	ORPHA:157798
Caffey Disease	Calvarial hyperostosis, Cortical irregularity, Joint hypermobility, Periosteal thickening of long...	OMIM:114000
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones	OMIM:607634
Familial Expansile Osteolysis	Thin bony cortex, Osteolysis, Pathologic fracture	OMIM:174810
Fibular Dimelia-Diplopodia Syndrome	Sacrococcygeal teratoma, Absent tibia	ORPHA:1757
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Periosteal thickening of long...	ORPHA:1310
Eiken Syndrome	Abnormal trabecular bone morphology, Limited elbow flexion, Delayed epiphyseal ossification, Thin...	ORPHA:79106
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Triphalangeal thumb, Postaxial hand polydactyly, Multicystic kidney dysplasia, Preaxial foot poly...	ORPHA:2091
Osteoporosis	Osteoporosis	OMIM:166710
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Osteolysis, Foot acroosteolysis, Abnormal cortical bone morphology	ORPHA:970
Schinzel-Giedion Midface Retraction Syndrome	Short distal phalanx of finger, Hydroureter, Single transverse palmar crease, Short 1st metacarpa...	OMIM:269150
Jawad Syndrome	Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly,...	OMIM:251255
Ectrodactyly-Polydactyly Syndrome	Camptodactyly of finger, Ectrodactyly, Finger syndactyly, Abnormal metacarpal morphology, Postaxi...	ORPHA:1892
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome	Aplasia/Hypoplasia of the distal phalanx of the 2nd toe, 1-2 toe complete cutaneous syndactyly, A...	ORPHA:488232
Congenital Megacalycosis	Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R...	ORPHA:93109
Acropectoral Syndrome	Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly	OMIM:605967
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins...	OMIM:143400
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Polydactyly, Postaxial, Type A8	Genu valgum, Postaxial polydactyly	OMIM:618123
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Polydactyly, Renal cyst, Syndactyly, Brachydactyly	OMIM:615982
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Abnormal cortical bone morphology, Pathologic fracture	ORPHA:166277
Synpolydactyly 2	Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar...	OMIM:608180
Endove Syndrome, Limb-Only Type	Hydronephrosis, 3-4 finger syndactyly, Vesicoureteral reflux, Triangular tibia, Disproportionate ...	OMIM:619217
Bardet-Biedl Syndrome 13	Polydactyly	OMIM:615990
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thi...	OMIM:600785
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Bardet-Biedl Syndrome 16	Stage 5 chronic kidney disease, Polydactyly, Renal cyst, Renal insufficiency, Renal dysplasia, Re...	OMIM:615993
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo...	OMIM:151623
Angioosteohypotrophic Syndrome	Thin bony cortex, Abnormal trabecular bone morphology	ORPHA:75508
Cranio-Osteoarthropathy	Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis	ORPHA:1525
Meckel Syndrome, Type 11	Polycystic kidney dysplasia, Polydactyly	OMIM:615397
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal insufficiency, Renal hypoplasia, Postaxial polydactyly	OMIM:615996
Orofaciodigital Syndrome Xv	Hydronephrosis, Postaxial hand polydactyly, Broad hallux, Duplication of phalanx of hallux	OMIM:617127
Split-Foot Malformation With Mesoaxial Polydactyly	Mesoaxial hand polydactyly, 4-5 toe syndactyly, 1-2 toe syndactyly, Split hand, Split foot	OMIM:616890
Immunodeficiency, Common Variable, 6	Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t...	OMIM:613496
Bardet-Biedl Syndrome 7	Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly	OMIM:615984
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Osteopetrosis, Autosomal Dominant 2	Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur...	OMIM:166600
Pyle Disease	Thin bony cortex, Limited elbow extension, Reduced bone mineral density	OMIM:265900
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Short 1st metacarpal, Nephroblastoma, Tibial bowing, Hydronephros...	ORPHA:798
Urofacial Syndrome 2	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy...	OMIM:615112
Orofaciodigital Syndrome Xviii	Short distal phalanx of finger, Preaxial polydactyly, Postaxial polydactyly, Urinary incontinence...	OMIM:617927
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Abnormality of the urinary system, Postaxial polydactyly	OMIM:213010
Macdermot-Winter Syndrome	Hydronephrosis, Camptodactyly of finger	OMIM:247990
Florid Cemento-Osseous Dysplasia	Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu...	ORPHA:83451
8P23.1 Duplication Syndrome	Exostoses, Toe syndactyly, Hydronephrosis	ORPHA:251076
Metatropic Dysplasia	Camptodactyly of finger, Joint stiffness, Abnormal cortical bone morphology, Abnormal enchondral ...	ORPHA:2635
Renal Hypoplasia	Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic...	ORPHA:93101
Hinman Syndrome	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Renal insufficiency, Vesicoureteral...	ORPHA:84085
Fanconi Anemia, Complementation Group O	Hydronephrosis, Small thenar eminence, Stage 5 chronic kidney disease, Short thumb, Proximal plac...	OMIM:613390
Li-Fraumeni Syndrome	Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ...	ORPHA:524
Postaxial Oligodactyly, Tetramelic	Postaxial oligodactyly, Postaxial foot polydactyly, Absent fifth metatarsal, Radial bowing, Lunat...	OMIM:176240
Holzgreve Syndrome	Hand polydactyly, Renal agenesis, Renal hypoplasia	OMIM:236110
Nephronophthisis 15	Nephronophthisis, Polydactyly	OMIM:614845
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis, Proximal radial head dislocation, Proximal placement of thumb, Aplasia/Hypoplasia...	OMIM:602418
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Carpenter Syndrome	Polydactyly, Finger syndactyly, Syndactyly, Polysplenia, Preaxial foot polydactyly, Toe syndactyl...	ORPHA:65759
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydronephrosis, Enuresis, Hydroureter, Urethral valve, Urethr...	OMIM:236730
Image Syndrome	Hydronephrosis, Metaphyseal dysplasia, Hypospadias	ORPHA:85173
Osteogenesis Imperfecta, Type Xxii	Thin bony cortex, Reduced bone mineral density, Multiple prenatal fractures, Recurrent fractures	OMIM:619795
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Megaloblastic anemia, Hydroureter, Sideroblastic anemia, Thrombocytopenia, Neutro...	OMIM:598500
Proteus Syndrome	Calvarial hyperostosis, Thin bony cortex, Facial hyperostosis, Mandibular hyperostosis	OMIM:176920
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication	OMIM:188740
Currarino Syndrome	Vesicoureteral reflux, Sacrococcygeal teratoma, Hypospadias, Hypoplasia of penis	ORPHA:1552
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture	OMIM:620366
Bardet-Biedl Syndrome 12	Hydronephrosis, Postaxial foot polydactyly, Polydactyly, Hydroureter, Postaxial hand polydactyly,...	OMIM:615989
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia, Hip dysplasia	ORPHA:195
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Stage 5 chronic kidney disease, Polydactyly, Brachydactyly	OMIM:613819
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl...	OMIM:191800
Orofaciodigital Syndrome Xvii	Micropenis, Polydactyly, Clubbing of fingers, Partial duplication of thumb phalanx, Short middle ...	OMIM:617926
6P22 Microdeletion Syndrome	Clinodactyly, Hydronephrosis, Finger syndactyly	ORPHA:251046
Mesomelia-Synostoses Syndrome	Hydronephrosis, Abnormality of the humerus, Ulnar deviation of finger, Metatarsal synostosis, Abn...	ORPHA:2496
Ck Syndrome	Joint hypermobility, Abnormal cortical bone morphology	OMIM:300831
Grant Syndrome	Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification	ORPHA:2097
Vesicoureteral Reflux 3	Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ...	OMIM:613674
Joubert Syndrome 16	Nephronophthisis, Polydactyly, Renal cyst	OMIM:614465
Split Cord Malformation	Hydronephrosis, Renal duplication, Neurogenic bladder, Horseshoe kidney, Functional abnormality o...	ORPHA:573278
Bardet-Biedl Syndrome 8	Renal dysplasia, Hypospadias, Postaxial polydactyly	OMIM:615985
Microphthalmia, Isolated 4	Postaxial polydactyly	OMIM:613094
Bardet-Biedl Syndrome 9	Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Renal insufficiency, Syndactyly, ...	OMIM:615986
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Papilloma, Colon cancer, Renal cyst, Juvenile gastrointestinal polyposis,...	ORPHA:480536
Aicardi Syndrome	Hemangioma, Carcinoma, Metastatic angiosarcoma, Proximal placement of thumb, Hepatoblastoma, Lipo...	OMIM:304050
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures	ORPHA:1486
Bardet-Biedl Syndrome 17	Postaxial foot polydactyly, Micropenis, Polydactyly, Mesoaxial polydactyly, Short fourth metatars...	OMIM:615994
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Foot polydactyly, Postaxial hand polydactyly, Renal agenesis	ORPHA:2155
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Hydronephrosis, Aplasia of the 3rd finger, Triangular tibia, ...	OMIM:619218
Gorham-Stout Disease	Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Osteolysis involving b...	ORPHA:73
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Polydactyly, Meningioma, Leukemia, Syndactyly, Nephroblastoma	OMIM:602501
Desmoid Tumor	Hydronephrosis, Fibroma, Neoplasm of the skin, Desmoid tumors, Intestinal polyposis, Abnormality ...	ORPHA:873
Joubert Syndrome 20	4-5 toe syndactyly, Renal cyst, Postaxial polydactyly	OMIM:614970
Renal Dysplasia	Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi...	ORPHA:93108
Joubert Syndrome 17	Abnormal renal morphology, Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly	OMIM:614615
Orofaciodigital Syndrome Viii	Short tibia, Hamartoma, Syndactyly, Polydactyly	OMIM:300484
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Duplication Of The Pituitary Gland	Teratoma	ORPHA:314621
X-Linked Intellectual Disability, Schimke Type	Hydronephrosis, Elbow flexion contracture, Vesicoureteral reflux, Hip contracture	ORPHA:85285
Carpenter Syndrome 1	Hydroureter, Polysplenia, Preaxial foot polydactyly, Aplasia/Hypoplasia of the middle phalanges o...	OMIM:201000
Czeizel-Losonci Syndrome	Hydronephrosis, 2-3 finger syndactyly, 3-4 finger syndactyly, Ectrodactyly, Congenital megaureter...	ORPHA:2437
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:600081
Bardet-Biedl Syndrome 3	Brachydactyly, Renal hypoplasia, Postaxial polydactyly	OMIM:600151
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of metatarsal bones, Aplasia/Hypoplasia of fingers, Aplasia/Hypoplasia of the ...	OMIM:228930
Camptobrachydactyly	Hand polydactyly, Urinary incontinence, Syndactyly, Short toe, Congenital finger flexion contract...	OMIM:114150
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Ochoa Syndrome	Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Ur...	ORPHA:2704
Posterior Urethral Valve	Recurrent urinary tract infections, Enuresis nocturna, Unilateral renal dysplasia, Hydronephrosis...	ORPHA:93110
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone tra...	OMIM:300554
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Brachydactyly, Short long bone, Nephrocalcinosis, Postaxial polydactyly	OMIM:615633
Duane-Radial Ray Syndrome	Short thumb, Horseshoe kidney, Aplasia of metacarpal bones, Shoulder dislocation, Hypoplasia of t...	OMIM:607323
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis	OMIM:235760
Laurin-Sandrow Syndrome	Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas...	ORPHA:2378
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thin bony cortex	OMIM:619638
Xanthinuria, Type I	Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Pyelonephritis	OMIM:278300
Meckel Syndrome, Type 3	Postaxial foot polydactyly, Postaxial hand polydactyly, Multicystic kidney dysplasia, Polydactyly	OMIM:607361
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Metaphyseal spurs, Polycystic kidney dysplasia, Micropenis, Absent tibia, Preaxial polydactyly, M...	OMIM:613091
Ivic Syndrome	Short 1st metacarpal, Small thenar eminence, Leukocytosis, Absent thumb, Short thumb, Preaxial po...	OMIM:147750
Joubert Syndrome 27	Dilatation of the renal pelvis, Polydactyly	OMIM:617120
Bardet-Biedl Syndrome 22	Postaxial foot polydactyly, Polydactyly	OMIM:617119
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Joint laxity, Recurrent fractures, Thin bony cortex, Joint hypermobility	OMIM:617952
Bardet-Biedl Syndrome 6	Hypospadias, Syndactyly, Renal cyst, Postaxial polydactyly	OMIM:605231
Meckel Syndrome, Type 10	Postaxial foot polydactyly, Camptodactyly, Micropenis, Postaxial polydactyly, Renal cyst, Ulnar d...	OMIM:614175
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hydronephrosis, Congenital hip dislocation, Hyperextensibility of the finger joints, Dislocation ...	OMIM:619797
Osteopetrosis, Autosomal Recessive 2	Diaphyseal sclerosis, Osteopetrosis, Osteomyelitis, Recurrent fractures, Cranial hyperostosis, Ma...	OMIM:259710
Joubert Syndrome 18	Camptodactyly, Postaxial polydactyly, Horseshoe kidney, Renal cyst, Trident pelvis, Talipes equin...	OMIM:614815
Orofaciodigital Syndrome Iv	Short finger, Hand polydactyly, Postaxial polydactyly, Short tibia, Hamartoma of tongue, Toe synd...	OMIM:258860
Mckusick-Kaufman Syndrome	Hydronephrosis, Postaxial foot polydactyly, Urogenital sinus anomaly, Urethral stricture, Finger ...	ORPHA:2473
Laurence-Moon Syndrome	Abnormality of the hand, Polydactyly, Micropenis	OMIM:245800
Nevus Comedonicus Syndrome	Toe syndactyly, Hamartoma, Finger syndactyly, Preaxial polydactyly	ORPHA:64754
Tibial Hemimelia	Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cutaneous finger syndacty...	ORPHA:93322
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Bilateral talipes equinovarus, Postaxial polydactyly, Overlapping toe, Preaxial polyd...	OMIM:618142
Prune Belly Syndrome	Hydronephrosis, Congenital hip dislocation, Hydroureter, Congenital posterior urethral valve, Tal...	OMIM:100100
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur...	OMIM:241530
Laurin-Sandrow Syndrome	Patellar aplasia, Hand polydactyly, Absent radius, Absent tibia, Syndactyly, Triphalangeal thumb,...	OMIM:135750
Weismann-Netter Syndrome	Abnormal cortical bone morphology	ORPHA:3344
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Polydactyly, Nephronophthisis, Hypo...	OMIM:616629
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Polydactyly, Talipes equinovarus, Hyperechogenic ki...	OMIM:613885
Biemond Syndrome Type 2	Hypospadias, Preaxial polydactyly	ORPHA:141333
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Short 4th metacar...	OMIM:169400
Joubert Syndrome 7	Stage 5 chronic kidney disease, Postaxial polydactyly, Renal cyst, Nephronophthisis, Postaxial ha...	OMIM:611560
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof...	OMIM:617102
Kury-Isidor Syndrome	Hydronephrosis, Hip dysplasia, Proximal placement of thumb, Finger syndactyly, Rocker bottom foot...	OMIM:619762
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Hydronephrosis, Vesicoureteral reflux, Slender long bone, Brachydactyly	OMIM:618265
Joubert Syndrome 35	Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Single transverse palmar crea...	OMIM:618161
Orofaciodigital Syndrome Xi	Postaxial polydactyly	OMIM:612913
Congenital Disorder Of Glycosylation, Type Iig	Hydronephrosis, Camptodactyly, Ulnar deviation of finger, Hemolytic-uremic syndrome, Anemia, Rena...	OMIM:611209
Melnick-Needles Syndrome	Hydronephrosis, Short distal phalanx of finger, Hip dislocation, Abnormal metaphysis morphology, ...	ORPHA:2484
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Short distal phalanx of finger, Polydactyly, Postaxial polydactyly, ...	OMIM:614091
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Hypoplastic ischia, Polydactyly, Hypospadias	OMIM:616910
Joubert Syndrome 15	Nephronophthisis, Micropenis, Preaxial polydactyly	OMIM:614464
Feingold Syndrome Type 1	Hydronephrosis, Abnormality of the kidney, Vesicoureteral reflux, Short thumb, Horseshoe kidney, ...	ORPHA:391641
Wolfram Syndrome 1	Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Hydroureter, Limited mobility of proxim...	OMIM:222300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hydronephrosis, Postaxial foot polydactyly, Vesicoureteral reflux, Micropenis, Leukopenia, Coxa v...	OMIM:301056
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Hydronephrosis, Hand polydactyly, Absent radius, Enlarged kidney, Proximal placeme...	OMIM:314390
Orofaciodigital Syndrome Type 10	Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia...	ORPHA:2756
Pfeiffer Syndrome Type 3	Hydronephrosis, Horseshoe kidney, Hallux varus, Finger syndactyly, Toe syndactyly, Broad thumb, S...	ORPHA:93260
Pelvis-Shoulder Dysplasia	Hydronephrosis, Camptodactyly of finger, Prominent protruding coccyx, Aplasia/Hypoplasia of the f...	ORPHA:2839
Frontometaphyseal Dysplasia 1	Hydronephrosis, Camptodactyly of finger, Increased density of long bone diaphyses, Broad phalange...	OMIM:305620
Tetraploidy	Hydronephrosis, Radial club hand, Renal hypoplasia/aplasia	ORPHA:3305
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Hydronephrosis, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Abnormality of t...	ORPHA:2973
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Ectrodactyly, Capillary hemangioma, Multiple renal cys...	ORPHA:3378
Pallister-Hall Syndrome	Oligodactyly, Postaxial foot polydactyly, Hydronephrosis, Y-shaped metacarpals, Hip dislocation, ...	OMIM:146510
Baller-Gerold Syndrome	Lymphoma, Hydronephrosis, Vesicoureteral reflux, Aplasia/Hypoplasia of the radius, Abnormality of...	ORPHA:1225
Congenital Myopathy 19	Hydronephrosis, Renal atrophy	OMIM:618578
Hereditary Xanthinuria	Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi...	ORPHA:3467
Dent Disease 1	Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractur...	OMIM:300009
Suleiman-El-Hattab Syndrome	Hydronephrosis, Polydactyly, Single transverse palmar crease, Clinodactyly, Brachydactyly	OMIM:618950
Al-Gazali-Bakalinova Syndrome	Polydactyly, Flattened epiphysis, Tapered finger, Clinodactyly, Epiphyseal dysplasia, Genu valgum	OMIM:607131
Frontometaphyseal Dysplasia	Short distal phalanx of finger, Camptodactyly of finger, Short metatarsal, Metacarpophalangeal jo...	ORPHA:1826
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
Recombinant Chromosome 8 Syndrome	Hydronephrosis, Camptodactyly, Joint contracture of the hand, Clinodactyly of the 5th finger	OMIM:179613
Cousin Syndrome	Hydronephrosis, Camptodactyly, Prominent protruding coccyx, Dislocated radial head, Hypoplastic s...	OMIM:260660
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Anemia, Decreased circulating IgA level, Abnormal trabecular bon...	OMIM:612301
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Hip dysplasia, Overlapping toe, Unilateral renal agenesis, Prominent fingertip pa...	OMIM:618494
Tarp Syndrome	Hydronephrosis, Bilateral talipes equinovarus, Postaxial polydactyly, Horseshoe kidney, Hypoplasi...	OMIM:311900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:264700
Metaphyseal Dysplasia, Braun-Tinschert Type	Increased bone mineral density, Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of pr...	ORPHA:85188
Vacterl/Vater Association	Hydronephrosis, Cavernous hemangioma, Ectopic kidney, Finger syndactyly, Hypoplasia of penis, Abn...	ORPHA:887
Vitamin D-Dependent Rickets, Type 2A	Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ...	OMIM:277440
9Q21.13 Microdeletion Syndrome	Hydronephrosis, Hip dysplasia, Polydactyly	ORPHA:531151
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hydronephrosis, Camptodactyly of finger, Hypoplasia of penis, Bilateral single transverse palmar ...	ORPHA:2083
Zaki Syndrome	Hydronephrosis, Ectrodactyly, Long fingers, Toe syndactyly, Hypoplasia of the phalanges of the to...	OMIM:619648
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Single transverse palmar crease, Polycystic kidney dysplasia, Preaxial polydactyly, Postaxial pol...	OMIM:617866
Legius Syndrome	Acute monocytic leukemia, Optic nerve glioma, Polydactyly, Vestibular schwannoma, Male urethral m...	ORPHA:137605
Al-Gazali Syndrome	Hydronephrosis, Proximal radio-ulnar synostosis, Bilateral talipes equinovarus, Wrist flexion con...	OMIM:609465
Joubert Syndrome 37	Hydronephrosis, Micropenis, Postaxial polydactyly	OMIM:619185
Short Rib-Polydactyly Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney, Abnormal long bone morphology, Polydactyl...	ORPHA:1505
Distal Triplication 15Q	Polycystic kidney dysplasia, Camptodactyly, Abnormality of the kidney, Hydronephrosis, Dilatation...	ORPHA:314588
Atresia Of Urethra	Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Renal insufficiency,...	ORPHA:105
Retinitis Pigmentosa 51	Abnormality of the kidney, Polydactyly	OMIM:613464
Leukocyte Adhesion Deficiency, Type Iii	Osteopetrosis	OMIM:612840
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Upper limb asymmetry, Polydactyly, Clinodactyly of the 5th finger	ORPHA:231140
Senior-Loken Syndrome 8	Global glomerulosclerosis, Stage 5 chronic kidney disease, Polydactyly, Nephronophthisis, Glomeru...	OMIM:616307
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Increased suscept...	ORPHA:289157
Meckel Syndrome, Type 2	Postaxial hand polydactyly, Renal cyst, Polydactyly, Bowing of the long bones	OMIM:603194
Autosomal Recessive Hypophosphatemic Rickets	Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Enthesitis, Hypopho...	ORPHA:289176
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Thin bony cortex, Increased bone mineral density, Osteopenia	ORPHA:85184
Otopalatodigital Syndrome Type 2	Hydronephrosis, Camptodactyly of finger, Short thumb, Preaxial polydactyly, Ureteral obstruction,...	ORPHA:90652
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydronephrosis, Fractured radius, Micropenis, Decreased fibular diameter, Short femur, Flared met...	OMIM:616897
15q26 overgrowth syndrome	Polycystic kidney dysplasia, Camptodactyly of finger, Abnormality of the kidney, Hydronephrosis, ...	DECIPHER:81
Toluene Embryopathy	Hydronephrosis, Abnormal localization of kidney, Tapered finger	ORPHA:1920
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Osteopetrosis	OMIM:618541
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Joubert Syndrome 23	Polydactyly	OMIM:616490
Trisomy 1Q	Hydronephrosis, Camptodactyly of finger, Congenital megaureter, Toe syndactyly, Preaxial hand pol...	ORPHA:261344
Mckusick-Kaufman Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Congenital hip dislocation, Hydroureter, Syndactyly,...	OMIM:236700
Osteopetrosis, Autosomal Recessive 1	Craniosynostosis, Increased bone mineral density, Pathologic fracture, Calvarial osteosclerosis, ...	OMIM:259700
Joubert Syndrome 10	Postaxial polydactyly	OMIM:300804
Axial Mesodermal Dysplasia Spectrum	Hydronephrosis, Renal cyst, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality of t...	ORPHA:1834
Orofaciodigital Syndrome Vi	Clinodactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Preaxial foot polydactyly, Short...	OMIM:277170
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Single transverse palmar crease, Hydronephrosis, Congenital hip dislocation, Absent toe, Aplasia ...	OMIM:308050
Joubert Syndrome 40	Postaxial polydactyly	OMIM:619582
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis	OMIM:620141
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly	OMIM:615761
Focal Dermal Hypoplasia	Hydronephrosis, Camptodactyly of finger, Giant cell tumor of bone, Papilloma, Hand polydactyly, H...	ORPHA:2092
Cone-Rod Dystrophy 16	Postaxial polydactyly	OMIM:614500
15Q Overgrowth Syndrome	Abnormal renal morphology, Hydronephrosis, Overlapping toe, Horseshoe kidney, Arachnodactyly, Con...	ORPHA:314585
Bor Syndrome	Hydronephrosis, Ureteropelvic junction obstruction, Renal insufficiency, Renal hypoplasia/aplasia...	ORPHA:107
Robinow Syndrome, Autosomal Recessive 1	Short distal phalanx of finger, Renal duplication, Nephrocalcinosis, Aplasia/Hypoplasia involving...	OMIM:268310
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Hydronephrosis, Medulloblastoma, Glioma, Autoimmune hemolytic...	OMIM:251260
Ventriculomegaly With Cystic Kidney Disease	Postaxial polydactyly, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kidneys,...	OMIM:219730
Microphthalmia, Lenz Type	Hydronephrosis, Camptodactyly of finger, Hydroureter, Finger syndactyly, Renal hypoplasia/aplasia...	ORPHA:568
3C Syndrome	Hydronephrosis, Hand polydactyly, Abnormal hip bone morphology, Finger syndactyly, Hypoplasia of ...	ORPHA:7
Silver-Russell Syndrome Due To A Point Mutation	Polydactyly, Microphallus, Ectrodactyly, Syndactyly, Short 5th finger, Hypospadias, Clinodactyly ...	ORPHA:397590
1Q21.1 Microdeletion Syndrome	Hydronephrosis, Hand polydactyly, Vesicoureteral reflux, Toe syndactyly, Broad thumb, Talipes equ...	ORPHA:250989
Osteopetrosis, Autosomal Recessive 3	Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis	OMIM:259730
Trisomy 17P	Polycystic kidney dysplasia, Hydronephrosis, Tapered finger, Hypoplasia of penis, Urethral valve,...	ORPHA:261290
Ritscher-Schinzel Syndrome 1	Hydronephrosis, Syndactyly, Hypospadias	OMIM:220210
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Hydronephrosis, Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Single transverse palmar crease, Hydronephrosis, Vesicoureteral reflux, Crossed fused renal ectop...	OMIM:300707
Mesomelia-Synostoses Syndrome	Hydronephrosis, Distal femoral bowing, Ulnar deviation of the hand, Short metatarsal, Tarsometata...	OMIM:600383
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Recurrent urinary tract infections, Hydronephrosis, Hepatosplenomegaly, Hypoplasia of the thymus,...	OMIM:612541
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polycystic kidney dysplasia, Tapered toe, Hydronephrosis, Enlarged kidney, Renal insufficiency, T...	OMIM:608836
Intellectual Developmental Disorder, Autosomal Dominant 36	Hip dysplasia, Postaxial polydactyly, Unilateral renal agenesis, Deviation of the 5th finger, Bro...	OMIM:616362
Orofaciodigital Syndrome Type 1	Deviation of finger, Hydronephrosis, Hand polydactyly, Proteinuria, Odontogenic neoplasm, Renal i...	ORPHA:2750
Retinitis Pigmentosa 89	Hepatosplenomegaly, Postaxial polydactyly	OMIM:618955
20P13 Microdeletion Syndrome	Clinodactyly, Finger syndactyly, Polydactyly, Brachydactyly	ORPHA:313781
Distal Duplication 6P	Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia	ORPHA:1745
Genitopatellar Syndrome	Hydronephrosis, Patellar aplasia, Hypoplastic ilia, Hypoplastic ischia, Radioulnar synostosis, Sh...	ORPHA:85201
Dubowitz Syndrome	Hydronephrosis, Neoplasm, Anemia, Abnormality of neutrophils, Acute lymphoblastic leukemia, Aplas...	ORPHA:235
Teebi-Shaltout Syndrome	Hydronephrosis, Camptodactyly, Ureteral stenosis, Horseshoe kidney, Ulnar deviation of the hand, ...	OMIM:272950
Septooptic Dysplasia	Short finger, Polydactyly	OMIM:182230
Tarp Syndrome	Hydronephrosis, Hand polydactyly, Extramedullary hematopoiesis, Hypoplasia of proximal radius, Po...	ORPHA:2886
Branchio-Oculo-Facial Syndrome	Hemangioma, Hydronephrosis, Preaxial hand polydactyly, Multicystic kidney dysplasia, Renal agenesis	ORPHA:1297
Takenouchi-Kosaki Syndrome	Hydronephrosis, Camptodactyly, Proximal placement of thumb, Overlapping toe, Unilateral renal age...	OMIM:616737
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Gonadoblastoma, Renal insufficiency, Nephropathy, Nephroblastoma, Hypospadias	OMIM:194072
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Postaxial polydactyly, Tapered finger, Broad thumb, Prominent fingertip pads, Arachnodactyly, Gen...	OMIM:619721
Khan-Khan-Katsanis Syndrome	Hydronephrosis, Renal cyst, Postaxial polydactyly, Anemia, Lymphopenia, Ureteral duplication, Cli...	OMIM:618460
Trisomy 20P	Hydronephrosis, Camptodactyly of finger, Abnormality of the kidney, Abnormality of the ureter, Fi...	ORPHA:261318
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, Hydronephrosis, Overlapping toe, Finger syndactyly, Deviation of...	ORPHA:464738
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Hydroureter, Polysplenia, Toe syndactyly, Short toe, Broad thumb, Multic...	ORPHA:373
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hydronephrosis, Micropenis, Anemia, Capillary hemangioma, Rocker bottom foot, Short 5th finger, 2...	ORPHA:163979
Trisomy 8P	Hydronephrosis, Short fifth metatarsal, Clinodactyly of the 5th toe, Nephrocalcinosis, Micropenis...	ORPHA:264450
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Congenital Myopathy 17	Clinodactyly, Hydronephrosis, Overlapping toe, Ureteropelvic junction obstruction, Tapered finger...	OMIM:618975
Mosaic Trisomy 9	Hydronephrosis, Camptodactyly of finger, Hip dislocation, Asplenia, Horseshoe kidney, Multiple re...	ORPHA:99776
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hydronephrosis, Camptodactyly, Vesicoureteral reflux, Horseshoe kidney, Ectopic kidney, Hypoplast...	OMIM:235510
Chromosome 2P16.1-P15 Deletion Syndrome	Hydronephrosis, Camptodactyly, Micropenis, Calcaneovalgus deformity, Metatarsus adductus, Arachno...	OMIM:612513
Campomelic Dysplasia	Hydronephrosis, Hip dislocation, Hypoplastic inferior ilia, Short long bone, Tibial bowing, Small...	ORPHA:140
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hydronephrosis, Micropenis, HbH hemoglobin, Coxa valga, Tapered finger, Radial deviation of finge...	OMIM:301040
Orofaciodigital Syndrome Type 6	Hand polydactyly, Mesoaxial polydactyly, Preaxial polydactyly, Syndactyly, Renal hypoplasia/aplas...	ORPHA:2754
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Enlarged kidney, Preaxial polydactyly, Postaxial polydactyly, Ulnar devia...	OMIM:612651
Eec Syndrome	Hypoplasia of the thymus, Hydronephrosis, Vesicoureteral reflux, Proximal placement of thumb, Ect...	ORPHA:1896
Chromosome 17Q12 Deletion Syndrome	Recurrent urinary tract infections, Hydronephrosis, Stage 5 chronic kidney disease, Hypoplasia of...	OMIM:614527
Apert Syndrome	Hydronephrosis, Broad distal phalanx of the thumb, Finger syndactyly, Syndactyly, Broad distal ha...	OMIM:101200
Osteopathia Striata-Cranial Sclerosis Syndrome	Coarse metaphyseal trabecularization, Facial hyperostosis, Osteopetrosis, Increased bone mineral ...	ORPHA:2780
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Horseshoe kidney, Urinary incontinence, P...	OMIM:176450
Pachydermoperiostosis	Osteolysis, Abnormal cortical bone morphology, Osteoporosis, Arthritis, Osteomyelitis, Limitation...	ORPHA:2796
Multicentric Osteolysis, Nodulosis, And Arthropathy	Metatarsal osteolysis, Camptodactyly of toe, Metacarpal osteolysis, Wrist flexion contracture, Os...	OMIM:259600
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Postaxial polydactyly	ORPHA:544254
Conotruncal Heart Malformations	Broad hallux, Postaxial polydactyly	OMIM:217095
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Hydronephrosis, Congenital hip dislocation, Syndactyly, Cubitus valgus, Ureteral triplication	OMIM:104350
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Hip dislocation, Hip dysplasia, Postaxial polydactyly, Tapered finger, Renal dysp...	OMIM:300968
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Osteopetrosis	ORPHA:3240
Basal Cell Nevus Syndrome 1	Cardiac fibroma, Down-sloping shoulders, Palmar pits, Polydactyly, Odontogenic keratocysts of the...	OMIM:109400
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Ulnar deviation of finger, Glandular hypospadias, Talipes equinovarus, Aplasia of...	ORPHA:1358
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Rothmund-Thomson Syndrome	Reduced bone mineral density, Aplastic anemia, Anemia, Leukemia, Osteopenia, Abnormal trabecular ...	ORPHA:2909
Diabetic Embryopathy	Hydronephrosis, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication	ORPHA:1926
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Preaxial polydactyly, Postaxial polydactyly, Syndactyly, Short long bone, Acetabular spurs, Femor...	OMIM:615503
Chondrodysplasia Punctata 2, X-Linked Dominant	Stippled calcification in carpal bones, Hydronephrosis, Bilateral talipes equinovarus, Postaxial ...	OMIM:302960
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis	OMIM:619362
Dent Disease	Rickets, Osteomalacia, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractur...	ORPHA:1652
Marden-Walker Syndrome	Hydronephrosis, Camptodactyly of finger, Abnormality of the kidney, Hydroureter, Epispadias, Rena...	ORPHA:2461
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Abnormal renal morphology, Tapered finger, Postaxial polydactyly	OMIM:613792
Melnick-Needles Syndrome	Limited elbow extension, Short distal phalanx of finger, Short humerus, Hip dislocation, Hydronep...	OMIM:309350
Intellectual Disability, Buenos-Aires Type	Hydronephrosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology	ORPHA:3079
Rhombencephalosynapsis	Abnormal renal morphology, Polydactyly, Finger syndactyly, Complete duplication of thumb phalanx,...	ORPHA:59315
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hydronephrosis, Renal duplication, Urinary bladder inflammation, Renal dysplasia, Hematuria, Uret...	ORPHA:79403
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Hydronephrosis, Camptodactyly, Overlapping toe, Flexion contracture of finger, Long toe, Single t...	ORPHA:254528
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Chime Syndrome	Hydronephrosis, Abnormality of the kidney, Hip dislocation, Abnormal epiphysis morphology, Aplasi...	ORPHA:3474
Congenital Disorder Of Glycosylation, Type Iil	Hip dysplasia, Postaxial polydactyly, Unilateral renal agenesis, Thrombocytopenia, Proximal tubul...	OMIM:614576
Koolen-De Vries Syndrome	Hydronephrosis, Renal duplication, Hip dislocation, Vesicoureteral reflux, Ureteral duplication, ...	ORPHA:96169
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification	OMIM:618476
Vater/Vacterl Association	Hydronephrosis, Vesicoureteral reflux, Absent radius, Short thumb, Preaxial polydactyly, Ectopic ...	OMIM:192350
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Abnormal cortical bone morphology, Osteoporosis, Knee flexion contractur...	ORPHA:3206
Lethal Congenital Contracture Syndrome 2	Hydronephrosis	OMIM:607598
2P15P16.1 Microdeletion Syndrome	Hydronephrosis, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Sandal gap, Multicy...	ORPHA:261349
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydronephrosis, Hydroureter, Megacystis	OMIM:619431
Brain Malformations With Or Without Urinary Tract Defects	Hydronephrosis, Vesicoureteral reflux, Renal hypoplasia	OMIM:613735
Igg4-Related Retroperitoneal Fibrosis	Hydronephrosis, Acute kidney injury, Normocytic anemia, Ureteropelvic junction obstruction, Renal...	ORPHA:49041
Noonan Syndrome 4	Hydronephrosis, Thrombocytopenia, Cubitus valgus, Ureteral duplication	OMIM:610733
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent urinary tract infections, Hydronephrosis, Urinary retention, Abnormal fingertip morphol...	ORPHA:79404
Encephalocraniocutaneous Lipomatosis	Hydronephrosis, Astrocytoma, Lipoma, Subcutaneous lipoma, Pelvic kidney, Multiple central nervous...	OMIM:613001
Peroxisome Biogenesis Disorder 1A (Zellweger)	Renal cortical microcysts, Hydronephrosis, Ulnar deviation of the hand, Albuminuria, Rocker botto...	OMIM:214100
Igg4-Related Aortitis	Hydronephrosis, Hypereosinophilia	ORPHA:449400
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Abnormal hand morphology, Abnormality of the hand, Dysuria, Clinodactyly, Abnorma...	ORPHA:101000
Fibrous Dysplasia Of Bone	Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Pa...	ORPHA:249
Autosomal Recessive Robinow Syndrome	Hydronephrosis, Short distal phalanx of finger, Camptodactyly of finger, Finger syndactyly, Abnor...	ORPHA:1507
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Recurrent urinary tract infections, Hydronephrosis, Abnormality of the kidney, Anemia, Abnormal h...	ORPHA:847
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Hypoplasia of the radius, Brachydactyly	OMIM:617895
Retinitis Pigmentosa 74	Abnormal renal morphology, Polydactyly	OMIM:616562
Otopalatodigital Syndrome, Type Ii	Short thumb, Short metatarsal, Rocker bottom foot, Toe syndactyly, Broad thumb, Short hallux, Rad...	OMIM:304120
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Hydronephrosis, Moderate albuminuria, Short toe, Cone-shaped epiphyses of the phalanges of the ha...	OMIM:619269
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatosplenomegaly, Hydronephrosis, Drumstick terminal phalanges, Duplicated collecting system	ORPHA:541423
Rothmund-Thomson Syndrome Type 2	Synostosis involving bones of the upper limbs, Aplastic anemia, Anemia, Pathologic fracture, Leuk...	ORPHA:221016
3P25.3 Microdeletion Syndrome	Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Proximal placement of thumb, O...	ORPHA:435638
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Preaxial polydactyly	ORPHA:2921
Mosaic Trisomy 8	Hydronephrosis, Patellar aplasia, Camptodactyly of finger, Deep palmar crease, Vesicoureteral ref...	ORPHA:96061
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Neonatal epiphyseal stippling, Hip dislocation, Epiphyseal stippling, Talipes equ...	ORPHA:35173
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal distal phalanx morphology of finger, Hydronephrosis, Abnormality of the kidney, Abnormal...	ORPHA:2636
22Q11.2 Duplication Syndrome	Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis	ORPHA:1727
Rothmund-Thomson Syndrome Type 1	Aplastic anemia, Anemia, Leukemia, Finger symphalangism, Osteopenia, Abnormal trabecular bone mor...	ORPHA:221008
8P Inverted Duplication/Deletion Syndrome	Hydronephrosis, Hip dislocation, Micropenis, Small hypothenar eminence, Long fingers, Abnormality...	ORPHA:96092
Occipital Horn Syndrome	Limited elbow extension, Short humerus, Hydronephrosis, Exostoses, Ureteral obstruction, Pelvic b...	OMIM:304150
Gm1-Gangliosidosis, Type Ii	Thin bony cortex, Joint stiffness	OMIM:230600
Webb-Dattani Syndrome	Hydronephrosis, Hip dislocation, Neurogenic bladder, Vesicoureteral reflux, Hyposthenuria	OMIM:615926
Craniofacioskeletal Syndrome	Hydronephrosis, Clinodactyly of the 5th finger, Short palm, Small hand, Hypospadias, Narrow iliac...	OMIM:300712
Epidermolysis Bullosa Simplex With Pyloric Atresia	Hydronephrosis, Renal duplication, Renal dysplasia, Abnormality of the urethra, Glomerular sclero...	ORPHA:158684
Campomelic Dysplasia	Shortening of all phalanges of the toes, Hip dislocation, Shortening of all phalanges of fingers,...	OMIM:114290
Basel-Vanagaite-Smirin-Yosef Syndrome	Hydronephrosis, 2-3 toe syndactyly, Hypospadias, Single transverse palmar crease	OMIM:616449
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatosplenomegaly, Abnormal renal morphology, Hydronephrosis, Micropenis, Postaxial hand polydac...	ORPHA:1655
Dyrk1A-Related Intellectual Disability Syndrome	Hydronephrosis, Hallux valgus, Micropenis, Polydactyly, Pelvic kidney, Renal cyst, Unilateral ren...	ORPHA:464306
Distal Deletion 12Q	Polycystic kidney dysplasia, Hydronephrosis, Vesicoureteral reflux, Micropenis, Overlapping toe, ...	ORPHA:96149
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Hydronephrosis, Brachydactyly	ORPHA:457193
Musculocontractural Ehlers-Danlos Syndrome	Hydronephrosis, Horseshoe kidney, Functional abnormality of the bladder, Decreased palmar creases...	ORPHA:2953
Netherton Syndrome	Ectopic kidney, Hydronephrosis, Aminoaciduria	ORPHA:634
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Hydronephrosis, Short distal phalanx of finger, Bladder trabeculation, Abnormal ilium morphology,...	OMIM:614080
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hydronephrosis, Postaxial hand polydactyly, Micropenis, Splenomegaly	OMIM:235255
Familial Osteodysplasia, Anderson Type	Increased susceptibility to fractures, Abnormal cortical bone morphology, Recurrent fractures	ORPHA:2769
Kleefstra Syndrome	Hydronephrosis, Micropenis, Renal cyst, Renal insufficiency, Hypoplasia of penis, Talipes equinov...	ORPHA:261494
Penile Agenesis	Hydronephrosis, Bilateral talipes equinovarus, Fetal pyelectasis, Hydroureter, Urethral fistula, ...	ORPHA:49
Osteogenesis Imperfecta, Type X	Generalized joint laxity, Osteopenia, Decreased calvarial ossification, Joint laxity, Thin bony c...	OMIM:613848
Smith-Lemli-Opitz Syndrome	Hydronephrosis, Postaxial foot polydactyly, Ulnar deviation of finger, Hip dislocation, Proximal ...	ORPHA:818
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hydronephrosis, Congenital hip dislocation, Nephrocalcinosis, Renal artery stenosis, Aminoaciduri...	OMIM:617913
Smith-Lemli-Opitz Syndrome	Hip dislocation, Short thumb, Proximal placement of thumb, Ureteropelvic junction obstruction, Fa...	OMIM:270400
Au-Kline Syndrome	Hydronephrosis, Dilatation of the renal pelvis, Hip dysplasia, Chronic kidney disease, Postaxial ...	OMIM:616580
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Hydronephrosis, Hip dislocation, Hip dysplasia, Narrow palm, ...	OMIM:610443
Sotos Syndrome	Hemangioma, Abnormality of the kidney, Acute lymphoblastic leukemia, Ureteropelvic junction obstr...	ORPHA:821
Stromme Syndrome	Accessory spleen, Hydronephrosis, Bilateral renal hypoplasia, Preaxial polydactyly	OMIM:243605
Zellweger Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Epiphyseal stippling, Hypospadias	ORPHA:912
Cranioectodermal Dysplasia 3	2-4 toe syndactyly, Stage 5 chronic kidney disease, Postaxial polydactyly, Nephronophthisis, 2-3 ...	OMIM:614099
Hyperphosphatasia-Intellectual Disability Syndrome	Clinodactyly, Hydronephrosis, Hip dysplasia, Shortening of all distal phalanges of the fingers	ORPHA:247262
Gabriele-De Vries Syndrome	Hydronephrosis, Finger joint hypermobility, Hallux valgus, Ureteropelvic junction obstruction, Lo...	OMIM:617557
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis, Testicular teratoma	ORPHA:764
X-Linked Intellectual Disability Due To Gria3 Mutations	Hydronephrosis, Micropenis	ORPHA:364028
Joubert Syndrome 39	Joint contracture of the 5th finger, Polycystic kidney dysplasia, Postaxial polydactyly	OMIM:619562
Orofaciodigital Syndrome V	Postaxial foot polydactyly, Postaxial polydactyly, Horseshoe kidney, Hamartoma of tongue, Postaxi...	OMIM:174300
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Postaxial polydactyly, Flat acetabular roof, Renal cyst, Short tibia, Hamar...	OMIM:616300
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Hydronephrosis, Camptodactyly, Bilateral talipes equinovarus, Contracture of the proximal interph...	OMIM:280000
Teratoma, Ovarian	Ovarian teratoma	OMIM:166950
Monosomy 9Q22.3	Cardiac fibroma, Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, ...	ORPHA:77301
Johanson-Blizzard Syndrome	Hydronephrosis, Anemia, Hypospadias, Hypoplasia of penis	ORPHA:2315
Congenital Disorder Of Glycosylation, Type Iie	Hydronephrosis, Neurogenic bladder, Adducted thumb, Splenomegaly, Overlapping fingers	OMIM:608779
Jacobsen Syndrome	Hydronephrosis, Hand polydactyly, Hip dislocation, Long hallux, Bone marrow hypocellularity, Fing...	ORPHA:2308
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hydronephrosis, Micropenis, Renal cyst, Unilateral renal agenesis, Flexion contracture of finger,...	ORPHA:464311
Floating-Harbor Syndrome	Hydronephrosis, Hip dysplasia, Nephrocalcinosis, Dislocated radial head, Short clavicles, Ivory e...	OMIM:136140
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydronephrosis, Unilateral renal dysplasia, Abnormal renal collecting system morphology, Flexion ...	ORPHA:280633
Focal Dermal Hypoplasia	Horseshoe kidney, Short metatarsal, Toe syndactyly, Short phalanx of finger, Brachydactyly, Osteo...	OMIM:305600
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Hydronephrosis, Vesicoureteral reflux, Micropenis, Overlapping toe, Tapered finger, 2-3 toe synda...	OMIM:618653
3Mc Syndrome 3	Penoscrotal hypospadias, Micropenis, Preaxial polydactyly, Horseshoe kidney, Radioulnar synostosi...	OMIM:248340
Rubinstein-Taybi Syndrome 1	Hepatic hemangioma, Short thumb, Polydactyly, Broad thumb, Flared iliac wing, Single transverse p...	OMIM:180849
Fryns Syndrome	Hydronephrosis, Short distal phalanx of finger, Clinodactyly of the 5th finger, Vesicoureteral re...	ORPHA:2059
Trisomy 18	Deviation of finger, Camptodactyly of finger, Hydronephrosis, Bilateral single transverse palmar ...	ORPHA:3380
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hydronephrosis, Micropenis, Megacystis, Urethral stenosis, Hydroureter, Ectrodactyly, Duplicated ...	OMIM:604292
Floating-Harbor Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Dilatation of the renal pelvis, Hip dysplasia, Short...	ORPHA:2044
Kabuki Syndrome	Hydronephrosis, Hip dislocation, Ureteropelvic junction obstruction, Duplicated collecting system...	ORPHA:2322
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Hydronephrosis, Genu valgum, Micropenis	OMIM:617798
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hydronephrosis, Camptodactyly, Proximal placement of thumb, Overlapping toe, Unilateral renal age...	ORPHA:487796
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Elbow ankylosis, Abnormal cortical bone morphology, Facial hypero...	ORPHA:2658
Cardiofaciocutaneous Syndrome 1	Hydronephrosis, Cavernous hemangioma, Deep palmar crease, Splenomegaly, Cubitus valgus, Hyperexte...	OMIM:115150
Developmental Delay With Or Without Dysmorphic Facies And Autism	Hydronephrosis, Microphallus, Renal cyst, Vesicoureteral reflux, Renal hypoplasia, Short foot, 2-...	OMIM:618454
Simpson-Golabi-Behmel Syndrome, Type 1	Short distal phalanx of finger, Short greater sciatic notch, Enlarged kidney, Duplication of rena...	OMIM:312870
Acromelic Frontonasal Dysostosis	Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, Patellar hypoplasia, Preaxial foot po...	OMIM:603671
Microphthalmia, Syndromic 9	Hydronephrosis, Hypoplastic spleen, Horseshoe kidney, Multilobulated spleen, Renal malrotation, P...	OMIM:601186
Cardioacrofacial Dysplasia 1	Genu valgum, Postaxial polydactyly	OMIM:619142
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis	ORPHA:488613
Meckel Syndrome 14	Polycystic kidney dysplasia, Postaxial foot polydactyly, Postaxial polydactyly, Syndactyly, Posta...	OMIM:619879
Robinow Syndrome, Autosomal Dominant 1	Hydronephrosis, Duplication of the distal phalanx of hand, Bifid distal phalanx of toe, Renal dup...	OMIM:180700
3Mc Syndrome 1	Hydronephrosis, Radioulnar synostosis, Short 5th finger, Caudal appendage, Single interphalangeal...	OMIM:257920
Fryns Syndrome	Hydronephrosis, Short distal phalanx of finger, Camptodactyly, Short thumb, Proximal placement of...	OMIM:229850
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Abnormality of the kidney, Micropenis, Postaxial polydactyly, Syndact...	OMIM:209900
Pseudoaminopterin Syndrome	Clinodactyly of the 5th toe, Short thumb, Postaxial polydactyly, Overlapping toe, Horseshoe kidne...	ORPHA:221120
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal cortical cysts, Early ossification of capital femoral epiphyses, Postaxial polydactyly, Ren...	ORPHA:397715
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count	OMIM:259720
Mitochondrial Complex Iii Deficiency, Nuclear Type 7	Proximal renal tubular acidosis, Postaxial polydactyly	OMIM:615824
Micro Syndrome	Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis	ORPHA:2510
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Hemangioma, Abnormal renal morphology, Hydronephrosis, Spinal neurofibroma, Optic nerve glioma, O...	ORPHA:363700
Bardet-Biedl Syndrome 20	Proteinuria, Micropenis, Postaxial polydactyly, Preaxial foot polydactyly, Postaxial hand polydac...	OMIM:619471
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thin bony cortex, Osteoporosis, Hyperextensibility of the finger joints, Recurrent fractures	OMIM:309583
Igg4-Related Kidney Disease	Hydronephrosis, Proteinuria, Acute kidney injury, Urinary bladder inflammation, Enlarged kidney, ...	ORPHA:449395
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Broad distal phalanx of finger, Postaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydac...	ORPHA:404440
46,Xy Sex Reversal 4	Renal dysplasia, Hydronephrosis, Ureteropelvic junction obstruction	OMIM:154230
Cardiofaciocutaneous Syndrome	Hydronephrosis, Cavernous hemangioma, Deep palmar crease, Palmoplantar keratoderma, Cubitus valgu...	ORPHA:1340
Oculodentodigital Dysplasia	Cranial hyperostosis, Camptodactyly of finger, Hyperostosis, Abnormal cortical bone morphology	ORPHA:2710
Alg9-Cdg	Hydronephrosis, Hitchhiker thumb, Enlarged kidney, Hypoplasia of the bladder, Ulnar deviation of ...	ORPHA:79328
Erdheim-Chester Disease	Hydronephrosis, Abnormal metaphysis morphology, Anemia, Renal insufficiency, Abnormal epiphysis m...	ORPHA:35687
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Oeis Complex	Hydronephrosis, Congenital hip dislocation, Micropenis, Hydroureter, Epispadias, Duplicated colle...	OMIM:258040
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hydronephrosis, Hand polydactyly, Micropenis, Hydroureter, Duplicated collecting system, Bladder ...	OMIM:129900
Microcephaly 26, Primary, Autosomal Dominant	Hydronephrosis	OMIM:619179
Cat Eye Syndrome	Hydronephrosis, Absent radius, Horseshoe kidney, Vesicoureteral reflux, Renal agenesis	OMIM:115470
Raine Syndrome	Hydronephrosis, Hydroureter, Brachydactyly, Long hallux, Bowing of the long bones	OMIM:259775
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short finger, Hydronephrosis, Enuresis, Short thumb, Abnormality of the palmar creases, Ureterope...	OMIM:619522
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Rena...	ORPHA:2237
Faciocardiomelic Syndrome	Thin bony cortex, Osteopenia	OMIM:612731
Duodenal Neuroendocrine Tumor	Hydronephrosis, Insulinoma, Paraganglioma, Increased hematocrit, Iron deficiency anemia, Intestin...	ORPHA:100076
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, Duplication of thumb phalanx	ORPHA:2995
Congenital Sialidosis Type 2	Hepatosplenomegaly, Abnormality of the kidney, Polydactyly	ORPHA:93400
Cerebellar-Facial-Dental Syndrome	Hydronephrosis, Ureteropelvic junction obstruction, Slender long bone, Tapered finger, Single tra...	ORPHA:444072
Lacrimoauriculodentodigital Syndrome	Hydronephrosis, Vesicoureteral reflux, Short thumb, Finger syndactyly, Syndactyly, Toe syndactyly...	ORPHA:2363
7Q11.23 Microduplication Syndrome	Enuresis, Hydronephrosis, Unilateral renal agenesis, Long fingers, Cubitus valgus, Single transve...	ORPHA:96121
Osteopetrosis With Renal Tubular Acidosis	Proximal renal tubular acidosis, Hydronephrosis, Elliptocytosis, Leukopenia, Anemia, Bone marrow ...	ORPHA:2785
Koolen-De Vries Syndrome Due To A Point Mutation	Hemangioma, Recurrent urinary tract infections, Hydronephrosis, Melanoma, Vesicoureteral reflux, ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hemangioma, Recurrent urinary tract infections, Hydronephrosis, Melanoma, Vesicoureteral reflux, ...	ORPHA:363958
Weill-Marchesani Syndrome 1	Thin bony cortex, Joint stiffness	OMIM:277600
Miller-Dieker Lissencephaly Syndrome	Camptodactyly, Polydactyly, Deep palmar crease, Single transverse palmar crease, Pelvic kidney, J...	OMIM:247200
Orofaciodigital Syndrome I	Polycystic kidney dysplasia, Proteinuria, Polydactyly, Syndactyly, Short 2nd toe, Hamartoma of to...	OMIM:311200
Intellectual Developmental Disorder, Autosomal Dominant 42	Limited elbow extension, Hydronephrosis, Neurogenic bladder, Narrow palm, Ureteropelvic junction ...	OMIM:616973
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Horseshoe kidney, Short clavicles, Splenomegaly, Short long bone, Postaxia...	OMIM:617088
Adnp Syndrome	Recurrent urinary tract infections, Polydactyly, Abnormal finger morphology, Abnormal toe morphol...	ORPHA:404448
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polycystic kidney dysplasia, Micropenis, Postaxial polydactyly, Preaxial polydactyly, Hamartoma o...	OMIM:616546
Mend Syndrome	Polydactyly, Overlapping toe, Long fingers, 2-3 toe syndactyly, Broad hallux, Crossed fused renal...	OMIM:300960
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hydronephrosis, Micropenis, Contracture of the distal interphalangeal joint of the fingers, Overl...	ORPHA:83617
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system	OMIM:617093
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Hydronephrosis, Single transverse palmar crease, Accessory spleen, Sand...	OMIM:613177
Meckel Syndrome, Type 1	Polycystic kidney dysplasia, Postaxial foot polydactyly, Camptodactyly of finger, Hypoplasia of t...	OMIM:249000
Coffin-Siris Syndrome 1	Hemangioma, Single transverse palmar crease, Hydronephrosis, Short distal phalanx of the 5th toe,...	OMIM:135900
Joubert Syndrome 14	Renal cyst, Postaxial polydactyly	OMIM:614424
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Hydronephrosis, Deviation of the hallux, Genu varum, 3-4 fing...	OMIM:616268
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hydronephrosis, Vesicoureteral reflux, Hip dysplasia, Abnormality of bladder morphology	ORPHA:453499
Kinsship Syndrome	Hip dislocation, Polydactyly, Horseshoe kidney, Dislocated radial head, Coxa valga, Single transv...	OMIM:619297
Visceral Myopathy 1	Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis	OMIM:155310
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Hydronephrosis, Zollinger-Ellison syndrome, Small intestine carcinoid	ORPHA:100078
Jejunal Neuroendocrine Tumor	Iron deficiency anemia, Hydronephrosis, Zollinger-Ellison syndrome, Small intestine carcinoid	ORPHA:100077
1P36 Deletion Syndrome	Hydronephrosis, Camptodactyly of finger, Abnormality of the kidney, Hip dysplasia, Renal cyst, Cl...	ORPHA:1606
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hydronephrosis, Abnormality of the kidney, Hip dysplasia, Pol...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hydronephrosis, Abnormality of the kidney, Hip dysplasia, Pol...	ORPHA:353277
Doors Syndrome	Hydronephrosis, Short distal phalanx of finger, Nephrocalcinosis, Abnormal finger morphology, Abn...	ORPHA:79500
Robinow Syndrome	Hydronephrosis, Short distal phalanx of finger, Micropenis, Syndactyly, Bifid distal phalanx of t...	ORPHA:97360
Opsoclonus-Myoclonus Syndrome	Neoplasm, Melanoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Ovarian te...	ORPHA:1183
Spondyloocular Syndrome	Thin bony cortex, Osteopenia	OMIM:605822
Degcags Syndrome	Short thumb, Polydactyly, Abnormal spleen morphology, Toe syndactyly, Preaxial hand polydactyly, ...	OMIM:619488
Hydrolethalus Syndrome 1	Hydronephrosis, Accessory spleen, Postaxial hand polydactyly, Duplication of phalanx of hallux, U...	OMIM:236680
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hydronephrosis, Neoplasm, Meningioma, Avascular necrosis of t...	ORPHA:353281
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Polycystic kidney dysplasia, Hip dislocation, Short thumb, Shoulder flexion contracture, Bowed hu...	OMIM:210710
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hydronephrosis, Abnormal metaphysis morphology, Urethrovaginal fistula, Renal cyst, Hypoplasia of...	ORPHA:93271
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hydronephrosis, Curved fingers, Neoplasm, Hallux valgus, Hip dysplasia, Congenital hip dislocatio...	ORPHA:480880
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Micropenis, Preaxial polydactyly, Postaxial polydactyly, Short tibia, Hamartoma of tongue, Short ...	OMIM:617925
Pallister-Hall Syndrome	Oligodactyly, Hip dislocation, Mesoaxial polydactyly, Toe syndactyly, Broad thumb, Radial bowing,...	ORPHA:672
Frank-Ter Haar Syndrome	Osteoporosis, Camptodactyly, Cortical irregularity, Osteopenia	OMIM:249420
Cockayne Syndrome Type 3	Hydronephrosis, Urinary retention, Neurogenic bladder, Hydroureter, Renal insufficiency, Unilater...	ORPHA:90324
Culler-Jones Syndrome	Micropenis, Postaxial polydactyly	OMIM:615849
Congenital Disorder Of Glycosylation, Type It	Hydronephrosis	OMIM:614921
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1

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