Not currently registered for phenotyping at IMPC

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

Gene Summary

human immunodeficiency virus type I enhancer binding protein 3
Schnurri-3,  Shn3,  2900056N03Rik,  E030045D18Rik,  Krc

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
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
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... ORPHA:93403
Brachydactyly, Type C
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... OMIM:113100
Syndactyly, Type Iv
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... OMIM:186200
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... OMIM:174500
Synpolydactyly 1
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... OMIM:186000
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system, Bifid distal phalanx of the thumb, Partial dup... ORPHA:2669
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Testicular Germ Cell Tumor
Choriocarcinoma, Embryonal neoplasm, Teratoma OMIM:273300
Polydactyly, Postaxial, Type A1
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb OMIM:174200
Syndactyly-Polydactyly-Earlobe Syndrome
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... OMIM:186350
Gonadoblastoma OMIM:424500
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Polydactyly, Preaxial Iv
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... OMIM:174700
Gnathodiaphyseal Dysplasia
Recurrent fractures, Thickened cortex of long bones, Mandibular osteomyelitis, Osteopenia ORPHA:53697
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly OMIM:618498
Camptosynpolydactyly, Complex
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly OMIM:607539
Acrocephalopolysyndactyly Type Iv
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... OMIM:201020
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Generalized osteosclerosis, Craniofacial hyperostosis, Abnormal cortical bo... ORPHA:2790
Santos Syndrome
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... OMIM:613005
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Polydactyly, Brachydactyly OMIM:617405
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Polydactyly OMIM:615987
Bardet-Biedl Syndrome 6
Hypospadias, Syndactyly, Renal cyst, Polydactyly OMIM:605231
Bardet-Biedl Syndrome 12
Polydactyly, Abnormality of the kidney OMIM:615989
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux OMIM:234280
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... OMIM:617805
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... OMIM:143400
Teratoma, Pineal
Polyuria, Teratoma OMIM:273120
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Short 2nd toe, Glandular hypospadias, Short thumb, Postaxial hand polydactyly, Brachydactyly OMIM:176305
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Caffey Disease
Calvarial hyperostosis, Cortical irregularity, Periosteal thickening of long tubular bones OMIM:114000
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Congenital Absence Of Upper Arm And Forearm With Hand Present
Renal agenesis, Polydactyly, Syndactyly, Upper limb phocomelia, Abnormal hip bone morphology ORPHA:294975
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Increased bone mineral density, Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:3152
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Bardet-Biedl Syndrome 5
Micropenis, Syndactyly, Polydactyly, Brachydactyly OMIM:615983
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Sclerosis of foot bone, Arthritis, Thickened cortex of bones ORPHA:564003
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Increased bone mineral density OMIM:265880
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Thickened cortex of long bones, Osteopetrosis, Calvarial osteosclerosis OMIM:607634
Ring Chromosome 8 Syndrome
Deviation of finger, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... ORPHA:157798
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... OMIM:618167
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Distal Osteosclerosis
Craniofacial osteosclerosis, Hyperostosis, Diaphyseal sclerosis OMIM:126250
Fibular Dimelia-Diplopodia Syndrome
Absent tibia, Sacrococcygeal teratoma ORPHA:1757
Eiken Syndrome
Limited elbow flexion, Thin bony cortex, Delayed epiphyseal ossification, Abnormal trabecular bon... ORPHA:79106
Schinzel-Giedion Midface Retraction Syndrome
Hypospadias, Talipes equinovarus, Thickened cortex of long bones, Facial hemangioma, Micropenis, ... OMIM:269150
Osteoporosis OMIM:166710
Ectrodactyly-Polydactyly Syndrome
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... ORPHA:1892
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Hereditary Sensory And Autonomic Neuropathy Type 2
Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Foot acroosteolysis ORPHA:970
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Osteopetrosis OMIM:600329
Endosteal Hyperostosis, Autosomal Dominant
Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal endosteal sclerosis, Clavicul... OMIM:144750
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Bilateral triphalangeal thumbs, Preaxial foot polydactyly, Renal cyst, Postaxial hand polydactyly OMIM:138790
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Preaxial foot polydactyly, Multicystic kidney dysplasia, Triphalangeal thumb, Postaxial hand poly... ORPHA:2091
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Synpolydactyly 2
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Abnormal cortical bone morphology, Limitation of joint mobility, Pathologic fracture ORPHA:166277
Polydactyly, Postaxial, Type A8
Genu valgum, Postaxial polydactyly OMIM:618123
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Acropectoral Syndrome
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly OMIM:605967
Endove Syndrome, Limb-Only Type
Hydronephrosis, Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, ... OMIM:619217
Orofaciodigital Syndrome Xv
Hydronephrosis, Broad hallux, Postaxial polydactyly OMIM:617127
Bardet-Biedl Syndrome 4
Polydactyly, Renal cyst, Syndactyly, Abnormality of the kidney, Brachydactyly OMIM:615982
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Cutaneous finger syndactyly, Hydronephrosis, Split hand, Ureteral atresia, Split foot OMIM:183802
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Thin bony cortex, Generalized bone demineralization, Rickets, Delayed epiphyseal ossification, Sp... OMIM:600785
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Meckel Syndrome, Type 11
Polycystic kidney dysplasia, Polydactyly OMIM:615397
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease, Hypoplasia of the radius, Short thumb... OMIM:613390
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... OMIM:613496
Image Syndrome
Hypospadias, Hydronephrosis, Metaphyseal dysplasia, Micromelia ORPHA:85173
Bardet-Biedl Syndrome 7
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly OMIM:615984
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb,... OMIM:602418
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Generalized osteosclerosis, Osteopetrosis, Fractures of the long bones, Mandi... OMIM:166600
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Abnormality of the urinary system, Postaxial polydactyly OMIM:213010
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Postaxial polydactyly, Genu valgum, Sandal gap, Preaxial polydact... OMIM:617927
Schinzel-Giedion Syndrome
Hypospadias, Facial hemangioma, Micropenis, Short 1st metacarpal, Camptodactyly, Nephroblastoma, ... ORPHA:798
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger OMIM:247990
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Mandibular osteomyelitis, Multiple bony cystic lesions, Abno... ORPHA:83451
Metatropic Dysplasia
Abnormal cortical bone morphology, Coarse metaphyseal trabecularization, Camptodactyly of finger,... ORPHA:2635
Bardet-Biedl Syndrome 19
Renal insufficiency, Polydactyly OMIM:615996
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
8P23.1 Duplication Syndrome
Toe syndactyly, Hydronephrosis, Exostoses ORPHA:251076
Hinman Syndrome
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... ORPHA:84085
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Orofaciodigital Syndrome Vi
Toe syndactyly, Renal agenesis, Postaxial polydactyly, Hypothalamic hamartoma, Renal dysplasia, R... OMIM:277170
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Holzgreve Syndrome
Renal hypoplasia, Renal agenesis, Hand polydactyly OMIM:236110
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Mesomelia-Synostoses Syndrome
Hydronephrosis, Abnormality of femur morphology, Ulnar deviation of finger, Synostosis of carpal ... ORPHA:2496
Joubert Syndrome 18
Horseshoe kidney, Polydactyly, Camptodactyly OMIM:614815
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Hydrou... OMIM:598500
Currarino Syndrome
Hypospadias, Hypoplasia of penis, Sacrococcygeal teratoma, Vesicoureteral reflux ORPHA:1552
Proteus Syndrome
Calvarial hyperostosis, Mandibular hyperostosis, Thin bony cortex, Facial hyperostosis OMIM:176920
Carpenter Syndrome
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... ORPHA:65759
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Hydroureter OMIM:224250
Nephronophthisis 15
Nephronophthisis, Polydactyly OMIM:614845
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Proximal placement of thumb, Absent radius, Hand polydactyly, S... OMIM:314390
Nephronophthisis 13
Renal hypoplasia, Polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Mild proteinuria OMIM:614377
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... OMIM:236730
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney, Hip dysplasia ORPHA:195
6P22 Microdeletion Syndrome
Hydronephrosis, Clinodactyly, Finger syndactyly ORPHA:251046
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
Grant Syndrome
Decreased skull ossification, Abnormal cortical bone morphology, Joint hyperflexibility ORPHA:2097
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... OMIM:191800
Orofaciodigital Syndrome Xvii
Renal hypoplasia, Polydactyly, Micropenis, Partial duplication of thumb phalanx, Central Y-shaped... OMIM:617926
Bardet-Biedl Syndrome 8
Hypospadias, Renal dysplasia, Polydactyly OMIM:615985
Joubert Syndrome 16
Nephronophthisis, Renal cyst, Polydactyly OMIM:614465
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... OMIM:615986
Gorham-Stout Disease
Osteolysis involving bones of the lower limbs, Osteolysis involving bones of the upper limbs, Ost... ORPHA:73
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the skin, Juvenile gastrointestinal polyposis, Astrocytoma, Neo... ORPHA:480536
Aicardi Syndrome
Carcinoma, Hemangioma, Proximal placement of thumb, Hepatoblastoma, Lipoma, Metastatic angiosarco... OMIM:304050
Bardet-Biedl Syndrome 17
Polydactyly, Renal cyst, Stage 5 chronic kidney disease, Mesoaxial polydactyly, Micropenis, Posta... OMIM:615994
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Limitation of joint mobility ORPHA:1486
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Renal agenesis, Postaxial hand polydactyly ORPHA:2155
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Meningioma, Polydactyly, Leukemia, Syndactyly, Nephroblastoma OMIM:602501
Desmoid Tumor
Neoplasm of the skin, Hydronephrosis, Desmoid tumors, Fibroma, Abnormality of the upper urinary t... ORPHA:873
Endove Syndrome, Limb-Brain Type
Toe syndactyly, Hydronephrosis, Triangular tibia, Recurrent urinary tract infections, Aplasia of ... OMIM:619218
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Joubert Syndrome 20
Syndactyly, Renal cyst, Postaxial polydactyly OMIM:614970
Orofaciodigital Syndrome Viii
Hamartoma, Syndactyly, Polydactyly, Short tibia OMIM:300484
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Joubert Syndrome 15
Nephronophthisis, Micropenis, Polydactyly OMIM:614464
Gestational Choriocarcinoma
Trophoblastic tumor, Choriocarcinoma, Neoplasm ORPHA:99926
Cousin Syndrome
Fibular aplasia, Toe syndactyly, Hydronephrosis, 2-3 toe syndactyly, 4-5 toe syndactyly, Talipes ... OMIM:260660
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:600081
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Postaxial hand polydactyly, Polydactyly, Talipes equinovarus OMIM:613885
Duplication Of The Pituitary Gland
Teratoma ORPHA:314621
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Brachydactyly, Vesicoureteral reflux OMIM:618265
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Talipes equinovarus, Rhizomelia, Small hand, Anemia, Short foot, Cam... OMIM:611209
Congenital finger flexion contractures, Short toe, Urinary incontinence, Syndactyly, Hand polydac... OMIM:114150
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Hypophosphatemic Rickets, X-Linked Recessive
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300554
Carpenter Syndrome 1
Genu varum, Hydroureter, Joint contracture of the hand, Deviation of finger, Shallow acetabular f... OMIM:201000
Czeizel-Losonci Syndrome
Hydronephrosis, Radial deviation of the thumb, Abnormality of the urinary system, Congenital mega... ORPHA:2437
Posterior Urethral Valve
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... ORPHA:93110
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Osteopetrosis OMIM:617306
Split Cord Malformation
Hypospadias, Horseshoe kidney, Hydronephrosis, Talipes equinovarus, Detrusor sphincter dyssynergi... ORPHA:573278
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... ORPHA:2378
Xanthinuria, Type I
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis OMIM:278300
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Hand polydactyly, Unilateral renal agenesis OMIM:235740
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Short long bone, Postaxial polydactyly, Brachydactyly, Nephrocalcinosis OMIM:615633
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... OMIM:617102
Bardet-Biedl Syndrome 3
Renal hypoplasia, Brachydactyly, Postaxial polydactyly OMIM:600151
Senior-Loken Syndrome 9
Tubulointerstitial nephritis, Polydactyly, Hypoplasia of the femoral head, Nephronophthisis, Stag... OMIM:616629
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Renal agenesis, Overlapping fingers, Hip dysplasia, Overlapping... OMIM:618494
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal spurs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyl... OMIM:613091
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... ORPHA:2756
Ochoa Syndrome
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... ORPHA:2704
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Elbow flexion contracture, Vesicoureteral reflux ORPHA:85285
Ivic Syndrome
Leukocytosis, Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Thrombocytopenia, Sma... OMIM:147750
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Joint laxity OMIM:617952
Bardet-Biedl Syndrome 22
Postaxial foot polydactyly, Polydactyly OMIM:617119
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Short long bone, Polydactyly, Stage 5 chronic kidney disease, Brachydactyly OMIM:613819
Meckel Syndrome, Type 3
Multicystic kidney dysplasia, Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly OMIM:607361
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing o... OMIM:614091
Duane-Radial Ray Syndrome
Triphalangeal thumb, Hypoplasia of the radius, Syndactyly, Short humerus, Upper limb muscle hypop... OMIM:607323
Otopalatodigital Syndrome, Type Ii
Hypospadias, Nonossified fifth metatarsal, Short metatarsal, Broad hallux, Bulbous tips of toes, ... OMIM:304120
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Long phalanx of finger, Hydronephrosis, Partial fusion ... OMIM:305620
Tibial Hemimelia
Hypospadias, Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial clu... ORPHA:93322
Nevus Comedonicus Syndrome
Toe syndactyly, Preaxial polydactyly, Hamartoma, Finger syndactyly ORPHA:64754
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hydronephrosis, Neutropenia, Thrombocytopenia, Leukopenia, Monocytosis, Hypoplasia of the thymus,... OMIM:612541
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:241530
Biemond Syndrome Type 2
Hypospadias, Preaxial polydactyly ORPHA:141333
Osteopetrosis, Autosomal Recessive 4
Recurrent fractures, Osteopetrosis OMIM:611490
Osteopetrosis, Autosomal Recessive 2
Osteopetrosis, Diaphyseal sclerosis, Osteomyelitis, Mandibular osteomyelitis, Cranial hyperostosi... OMIM:259710
Orofaciodigital Syndrome Iv
Toe syndactyly, Hamartoma of tongue, Postaxial polydactyly, Short finger, Foot polydactyly, Brach... OMIM:258860
Mckusick-Kaufman Syndrome
Tarsal synostosis, Hydronephrosis, Urogenital sinus anomaly, Finger syndactyly, Renal hypoplasia/... ORPHA:2473
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... OMIM:135750
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the r... OMIM:311900
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Talipes equinovarus, Congenital posterior urethral valve, Congeni... OMIM:100100
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Joubert Syndrome 35
Hydronephrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis,... OMIM:618161
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Hypospadias, Polydactyly, Hypoplastic ischia OMIM:616910
Pelvis-Shoulder Dysplasia
Hydronephrosis, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protruding... ORPHA:2839
Pelger-Huet Anomaly
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Neutropenia, Hyp... OMIM:169400
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Pallister-Hall Syndrome
Renal dysplasia, Distal shortening of limbs, Micropenis, Syndactyly, Ectopic kidney, Short 4th me... OMIM:146510
Wolfram Syndrome 1
Hydronephrosis, Megaloblastic anemia, Limited mobility of proximal interphalangeal joint, Siderob... OMIM:222300
Melnick-Needles Syndrome
Hydronephrosis, Short clavicles, Bowing of the long bones, Abnormality of the metaphysis, Hip dis... ORPHA:2484
Meckel Syndrome, Type 2
Bowing of the long bones, Renal cyst, Polydactyly, Postaxial hand polydactyly OMIM:603194
Diabetes Insipidus, Neurohypophyseal, X-Linked
Hydronephrosis, Polyuria OMIM:304900
Mend Syndrome
2-3 toe syndactyly, Polydactyly, Long fingers, Overlapping fingers, Overlapping toe OMIM:300960
Feingold Syndrome Type 1
Horseshoe kidney, Hydronephrosis, 2-3 toe syndactyly, Short middle phalanx of finger, Toe syndact... ORPHA:391641
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Broad hallux phalanx, Toe syndactyly, Broad thumb, Small hand, ... ORPHA:93260
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Capillary hemangioma, Displacement of the urethral mea... ORPHA:3378
Hypospadias, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the hand, ... OMIM:612651
Meckel Syndrome, Type 10
Hypospadias, Micropenis, Renal cyst, Postaxial polydactyly OMIM:614175
Hereditary Xanthinuria
Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis... ORPHA:3467
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Postaxial polydactyly, Preaxial polydactyly, Micropenis, Overlapping fingers, Unilateral renal ag... OMIM:618142
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Aplasia/Hypoplasia of the radius, Urogenital sinus anomaly, Displacement of the u... ORPHA:2973
Short-Rib Thoracic Dysplasia 18 With Polydactyly
2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar bowing, Preaxial polydactyly, Pol... OMIM:617866
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Pseudo-fractures, Abnormal trabecular bone morphology, Increased bone mineral d... ORPHA:289176
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hydronephrosis, Talipes equinovarus, Rocker bottom foot, Leukopenia, Duplicated coll... OMIM:301056
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:264700
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Hand oligodactyly, Aplasia/Hypoplasia of the patella, ... ORPHA:1225
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, Renal atrophy OMIM:618578
Renal hypoplasia/aplasia, Hydronephrosis, Radial club hand ORPHA:3305
Dent Disease 1
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... OMIM:300009
Vitamin D-Dependent Rickets, Type 2A
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Sparse bone trab... OMIM:277440
Short Rib-Polydactyly Syndrome
Hypospadias, Abnormal ilium morphology, Urogenital sinus anomaly, Syndactyly, Abnormal pelvis bon... ORPHA:1505
Joubert Syndrome 7
Nephronophthisis, Renal cyst, Postaxial hand polydactyly, Postaxial polydactyly OMIM:611560
46,Xy Sex Reversal 10
Micropenis, Dysgerminoma, Gonadoblastoma OMIM:616425
Hydrolethalus Syndrome 2
Preaxial polydactyly, Postaxial polydactyly OMIM:614120
Vacterl/Vater Association
Hypospadias, Cavernous hemangioma, Hydronephrosis, Renal agenesis, Aplasia/Hypoplasia of the radi... ORPHA:887
Recombinant Chromosome 8 Syndrome
Clinodactyly of the 5th finger, Hydronephrosis, Joint contracture of the hand, Camptodactyly OMIM:179613
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Sclerosis of middle finger phalanx, Osteopenia, Coarse metaphyseal trabeculariz... ORPHA:85188
Mesomelia-Synostoses Syndrome
Hydronephrosis, Ulnar deviation of the hand, Ulnar deviation of the hand or of fingers of the han... OMIM:600383
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Osteopetrosis, Anemia, Splenome... OMIM:612301
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Joubert Syndrome 23
Polydactyly OMIM:616490
Frontometaphyseal Dysplasia
Short metatarsal, Joint contracture of the hand, Progressive bowing of long bones, Camptodactyly ... ORPHA:1826
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Hip dysplasia, Polydactyly ORPHA:531151
Otopalatodigital Syndrome Type 2
Hypospadias, Ureteral obstruction, Hydronephrosis, Fibular aplasia, Tarsal synostosis, Bowing of ... ORPHA:90652
Legius Syndrome
Non-small cell lung carcinoma, Ovarian neoplasm, Polydactyly, Male urethral meatus stenosis, Vest... ORPHA:137605
Joubert Syndrome 37
Micropenis, Hydronephrosis, Postaxial polydactyly OMIM:619185
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Thin bony cortex, Increased bone mineral density, Osteopenia ORPHA:85184
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly OMIM:129540
Suleiman-El-Hattab Syndrome
Hydronephrosis, Polydactyly, Clinodactyly, Brachydactyly, Single transverse palmar crease OMIM:618950
Hypocalcemic Vitamin D-Dependent Rickets
Thin bony cortex, Rickets, Increased susceptibility to fractures, Delayed epiphyseal ossification... ORPHA:289157
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry ORPHA:231140
15q26 overgrowth syndrome
Horseshoe kidney, Hydronephrosis, Renal agenesis, Tapered finger, Abnormality of toe, Arachnodact... DECIPHER:81
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Hydronephrosis, Adducted thumb, Decreased fibular diameter, Limb undergrowth, Flared... OMIM:616897
Al-Gazali Syndrome
Hydronephrosis, Broad distal phalanx of finger, Wrist flexion contracture, Proximal radio-ulnar s... OMIM:609465
Mckusick-Kaufman Syndrome
Hydronephrosis, Vesicovaginal fistula, Congenital hip dislocation, Polycystic kidney dysplasia, S... OMIM:236700
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stipp... OMIM:302960
Atresia Of Urethra
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... ORPHA:105
Joubert Syndrome 10
Postaxial polydactyly OMIM:300804
Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Craniosynostosis, Calvarial osteosclerosis, Pathologic fracture, Osteomyelitis, In... OMIM:259700
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly, Lipoma OMIM:603671
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, Arachnodactyly, Polycystic kidney dysplasia, Camptodactyly, Dil... ORPHA:314588
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Hypospadias, Hydronephrosis, Renal agenesis, Reduced alpha/beta synthesis ratio, Hypochromic micr... OMIM:301040
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary ... ORPHA:1834
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Hydronephrosis, Tapered finger, Long fingers, Tapered toe, Polycystic kidne... OMIM:608836
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney, Tapered finger ORPHA:1920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis OMIM:615287
Joubert Syndrome 17
Syndactyly, Polydactyly OMIM:614615
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Toe syndactyly, Short clavicles, Abnormality of epiphysis morph... ORPHA:2092
Silver-Russell Syndrome Due To A Point Mutation
Hypospadias, Polydactyly, Short 5th finger, Syndactyly, Clinodactyly of the 5th finger, Ectrodact... ORPHA:397590
Au-Kline Syndrome
Deep palmar crease, Hip dysplasia, Overlapping toe, Postaxial polydactyly OMIM:616580
3C Syndrome
Hypospadias, Hydronephrosis, Finger syndactyly, Facial hemangioma, Hand polydactyly, Abnormal hip... ORPHA:7
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
15Q Overgrowth Syndrome
Horseshoe kidney, Hydronephrosis, Abnormal coccyx morphology, Large hands, Ureterovesical stenosi... ORPHA:314585
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly OMIM:615761
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis, Syndactyly OMIM:220210
Bor Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... ORPHA:107
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Microphthalmia, Lenz Type
Hypospadias, Hydronephrosis, Finger syndactyly, Complete duplication of thumb phalanx, Renal hypo... ORPHA:568
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Proximal renal tubular acidosis, Postaxial polydactyly OMIM:615824
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Nijmegen Breakage Syndrome
B lymphocytopenia, Hydronephrosis, Rhabdomyosarcoma, Lymphoma, Recurrent urinary tract infections... OMIM:251260
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Bilateral single transverse palmar creases, Camptodactyly of finger, Hypoplasia o... ORPHA:2083
Chromosome 2P16.1-P15 Deletion Syndrome
Metatarsus adductus, Hydronephrosis, Joint contracture of the hand, Arachnodactyly, Micropenis, C... OMIM:612513
Trisomy 20P
Hypospadias, Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Finger s... ORPHA:261318
Distal Trisomy 6P
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis ORPHA:1745
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Talipes equinovarus, Deep palmar crease, Rocker bottom foot, Re... ORPHA:99776
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Odontogenic neoplasm, Hydronephrosis, Cone-shaped epiphysis, Hamartoma of tong... ORPHA:2750
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, 2-3 toe syndactyly, Rocker bottom foot, Capillary hemangioma, Anemia... ORPHA:163979
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis OMIM:616973
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Tapered finger, Proximal placement o... OMIM:616737
Simpson-Golabi-Behmel Syndrome
Hypospadias, Talipes equinovarus, Finger syndactyly, Splenomegaly, Camptodactyly of finger, Short... ORPHA:373
Tarp Syndrome
Horseshoe kidney, Hydronephrosis, Talipes equinovarus, Rocker bottom foot, Postaxial polydactyly,... ORPHA:2886
Trisomy 8P
Hydronephrosis, Neuroblastoma, Nephrocalcinosis, Short fifth metatarsal, Clinodactyly of the 5th ... ORPHA:264450
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Cutaneous finger syndactyly, Talipes equinovarus, Hypoplastic i... OMIM:235510
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Metatarsus adductus, Ulnar deviation of the hand, Talipes equin... OMIM:272950
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, 2-3 toe syndactyly, Single transverse palmar crease, Male urethral m... ORPHA:464738
Campomelic Dysplasia
Hydronephrosis, Tibial bowing, Small abnormally formed scapulae, Talipes equinovarus, Bowing of t... ORPHA:140
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Hydronephrosis, Acute lymphoblastic leukemia, Large hands, Duplicated collecting system, Joint co... OMIM:280000
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Hypospadias, Gonadoblastoma, Nephropathy, Nephroblastoma, Renal insufficiency OMIM:194072
1Q21.1 Microdeletion Syndrome
Broad hallux phalanx, Hydronephrosis, Toe syndactyly, Talipes equinovarus, Foot polydactyly, Hand... ORPHA:250989
Dubowitz Syndrome
Hypospadias, Toe syndactyly, Hydronephrosis, Metatarsus adductus, Acute lymphoblastic leukemia, T... ORPHA:235
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis OMIM:618476
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Renal agenesis, Hemangioma, Multicystic kidney dysplasia, Preaxial hand polydactyly ORPHA:1297
Retinitis Pigmentosa 89
Hepatosplenomegaly, Postaxial polydactyly OMIM:618955
Campomelic Dysplasia
Hydronephrosis, Shortening of all phalanges of the toes, Shortening of all phalanges of fingers, ... OMIM:114290
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Congenital hip dislocation, Hydronephrosis OMIM:617913
Trisomy 1Q
Toe syndactyly, Hydronephrosis, Congenital megaureter, Arachnodactyly, Multicystic kidney dysplas... ORPHA:261344
Eec Syndrome
Hypospadias, Toe syndactyly, Hydronephrosis, Urethral atresia, Aplasia/Hypoplasia of the thumb, H... ORPHA:1896
Robinow Syndrome, Autosomal Recessive 1
Hydronephrosis, Duplication of the distal phalanx of hand, Broad toe, Small hand, Renal duplicati... OMIM:268310
20P13 Microdeletion Syndrome
Clinodactyly, Polydactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
Renal hypoplasia, Hydronephrosis, Tapered finger, Hand clenching, Overlapping fingers, Ureteropel... OMIM:618975
Chromosome 17Q12 Deletion Syndrome
Renal hypoplasia, Hydronephrosis, Upper limb undergrowth, Urethral stenosis, Long fingers, Renal ... OMIM:614527
Genitopatellar Syndrome
Hydronephrosis, Patellar aplasia, Talipes equinovarus, Multicystic kidney dysplasia, Hypoplastic ... ORPHA:85201
Trisomy 17P
Urethral valve, Hydronephrosis, Urethral stenosis, Tapered finger, Polycystic kidney dysplasia, C... ORPHA:261290
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial hyperostosis, Osteopetrosis, Increased bone mineral density, Coarse metaphyseal trabecular... ORPHA:2780
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication, Cubitus valgus, Congenital hip dislocation, Syndactyly OMIM:104350
Osteoporosis, Arthritis, Abnormal cortical bone morphology, Osteomyelitis, Limitation of joint mo... ORPHA:2796
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Tapered finger, Postaxial polydactyly, Renal dysplasia, Small hand, Hip dislocati... OMIM:300968
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Postaxial polydactyly, Hypoplasia of the radius, Syndactyly, Micromelia, Brachydactyly, Hypoplast... OMIM:617895
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Fetal megacystis, Hydroureter, Megacystis OMIM:619362
Syngap1-Related Developmental And Epileptic Encephalopathy
Hypospadias, Postaxial polydactyly ORPHA:544254
Chromosome 3Pter-P25 Deletion Syndrome
Tapered finger, Abnormal renal morphology, Postaxial polydactyly OMIM:613792
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Basal Cell Nevus Syndrome
Cardiac rhabdomyoma, Rhabdomyoma, Odontogenic keratocysts of the jaw, Irregular ossification of h... OMIM:109400
Marden-Walker Syndrome
Hypospadias, Metatarsus adductus, Hydronephrosis, Renal agenesis, Abnormal penis morphology, Abno... ORPHA:2461
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Metatarsus adductus, Hydronephrosis, Ulnar deviation of the hand, Talipes equinovaru... OMIM:214100
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Syndactyly, Femoral bowing, Short lon... OMIM:615503
Rothmund-Thomson Syndrome
Neutropenia, Leukemia, Increased susceptibility to fractures, Anemia, Osteopenia, Abnormal trabec... ORPHA:2909
Intellectual Disability, Buenos-Aires Type
Abnormality of pelvic girdle bone morphology, Hydronephrosis, Clinodactyly of the 5th finger ORPHA:3079
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Talipes equinovarus, Ulnar deviation of finger, Brachydactyly, Aplasia of the pec... ORPHA:1358
Melnick-Needles Syndrome
Hydronephrosis, Tibial bowing, Short clavicles, Talipes equinovarus, Hypoplastic scapulae, Genu v... OMIM:309350
Diabetic Embryopathy
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Hydronephrosis ORPHA:1926
Conotruncal Heart Malformations
Broad hallux, Postaxial polydactyly OMIM:217095
Webb-Dattani Syndrome
Hip dislocation, Hydronephrosis, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Dent Disease
Thin bony cortex, Rickets, Delayed epiphyseal ossification, Recurrent fractures, Osteomalacia, Sp... ORPHA:1652
Orofaciodigital Syndrome Type 6
Renal agenesis, Hamartoma of tongue, Hypothalamic hamartoma, Mesoaxial polydactyly, Foot polydact... ORPHA:2754
Smith-Lemli-Opitz Syndrome
Hypospadias, 2-3 toe syndactyly, Epiphyseal stippling, Proximal placement of thumb, Micropenis, H... OMIM:270400
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Genu valgum, Abnormal thumb morphology, Abnormal hand morphology, Clinod... ORPHA:101000
Currarino Syndrome
Horseshoe kidney, Presacral teratoma, Recurrent urinary tract infections, Perianal abscess, Urina... OMIM:176450
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Renal corticomedullary cysts, Postaxial polydactyly OMIM:219730
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, Abnormal renal morphology,... ORPHA:59315
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Postaxial polydactyly, Proximal tubulopathy, Splenomegaly, Hip dysplasia, Unilatera... OMIM:614576
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... ORPHA:79403
Stüve-Wiedemann Syndrome
Thickened cortex of long bones, Osteoporosis, Abnormal cortical bone morphology, Knee flexion con... ORPHA:3206
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Renal cyst, Short foot, Vesicoureteral reflux, Clinodactyly of ... OMIM:618454
46,Xy Sex Reversal 6
Hypospadias, Dysgerminoma, Chordee, Gonadoblastoma OMIM:613762
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Chime Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Hydronephrosis, Acute leukemia, Abnormality of e... ORPHA:3474
Koolen-De Vries Syndrome
Hypospadias, Ureteral duplication, Hydronephrosis, Renal duplication, Arachnodactyly, Hip disloca... ORPHA:96169
Vater/Vacterl Association
Hypospadias, Patent urachus, Hydronephrosis, Renal agenesis, Triphalangeal thumb, Renal dysplasia... OMIM:192350
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis, Wrist flexion contracture, Long toe, Camptodactyly, Flexion contracture of finger... ORPHA:254528
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Short clavicles, Bladder carcinoma, Capitate-hamate fusion,... OMIM:304150
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Talipes equinovarus, Abnormal hemoglobin, Anemia, Recurrent urinary tract infecti... ORPHA:847
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Normocytic anemia, Nephrotic syndrome, Renovascular hypertension, Membranous neph... ORPHA:49041
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Fibrous Dysplasia Of Bone
Thin bony cortex, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy reduct... ORPHA:249
3P25.3 Microdeletion Syndrome
Postaxial polydactyly, Tapered finger, Congenital pseudoarthrosis of the clavicle, Proximal place... ORPHA:435638
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Aplastic clavicle, Large hands, Abnormality of the upper urinary tract, Large iliac wing, Abnorma... ORPHA:2636
Severe Generalized Junctional Epidermolysis Bullosa
Ureteral obstruction, Hydronephrosis, Urinary retention, Mitten deformity, Aplasia/Hypoplasia of ... ORPHA:79404
Noonan Syndrome 4
Thrombocytopenia, Ureteral duplication, Cubitus valgus, Hydronephrosis OMIM:610733
2P15P16.1 Microdeletion Syndrome
Metatarsus adductus, Hydronephrosis, Tapered finger, Sandal gap, Multicystic kidney dysplasia, To... ORPHA:261349
Apert Syndrome
Cutaneous finger syndactyly, Hydronephrosis, Synostosis of carpal bones, Postaxial hand polydacty... OMIM:101200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis, Short toe, Clinodactyly of the 5th finger, Short phalanx of... OMIM:619269
Igg4-Related Aortitis
Hydronephrosis, Hypereosinophilia ORPHA:449400
Mullegama-Klein-Martinez Syndrome
Clinodactyly of the 5th finger, Polydactyly OMIM:301022
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Long fingers, Hip dislocation, Micropenis, Cli... ORPHA:96092
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Hallux valgus, Hydronephrosis, Toe syndactyly, Polydactyly, Pelvic kidney, Renal cys... ORPHA:464306
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Hydronephrosis, Postaxial polydactyly, Vesicoureteral reflux, Clinodactyly OMIM:618460
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Talipes equinovarus, Epiphyseal stippling, Neonatal epiphyseal stippling, Upper l... ORPHA:35173
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Hydronephrosis, Toe syndactyly, Broad thumb, Abnormal hip bone morphology, ... ORPHA:1507
Distal Monosomy 12Q
Hydronephrosis, 2-3 toe syndactyly, Short middle phalanx of finger, Aplasia/Hypoplasia of the mid... ORPHA:96149
Rothmund-Thomson Syndrome Type 2
Neutropenia, Leukemia, Anemia, Finger symphalangism, Abnormal trabecular bone morphology, Osteope... ORPHA:221016
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Hepatosplenomegaly, Duplicated collecting system, Drumstick terminal phalanges ORPHA:541423
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Small hand, Narrow iliac wing, Short foot, Short palm, Clinodactyly ... OMIM:300712
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney, Lipoma, Multiple central nervous system lipomas, Subcutaneous lipoma OMIM:613001
Mosaic Trisomy 8
Hydronephrosis, Patellar aplasia, Narrow pelvis bone, Camptodactyly of finger, Vesicoureteral ref... ORPHA:96061
Rothmund-Thomson Syndrome Type 1
Neutropenia, Leukemia, Anemia, Finger symphalangism, Abnormal trabecular bone morphology, Osteope... ORPHA:221008
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Postaxial hand polydactyly, Hydronephrosis, Splenomegaly OMIM:235255
Joubert Syndrome 32
Postaxial polydactyly OMIM:617757
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Renal agenesis, Short clavicles, Hypoplastic scapulae, Epiphyseal stippling, Cong... OMIM:308050
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Hydronephrosis, Urethral stenosis ORPHA:1727
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Toe syndactyly, Hydronephrosis, Renal agenesis, Urethral stenosis, Renal dysplasia, Megacystis, D... OMIM:604292
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Glome... ORPHA:158684
Smith-Lemli-Opitz Syndrome
Hypospadias, 2-3 toe syndactyly, Aplasia/Hypoplasia of the radius, Abnormal localization of kidne... ORPHA:818
Netherton Syndrome
Ectopic kidney, Aminoaciduria, Hydronephrosis ORPHA:634
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Adducted thumb, Splenomegaly, Overlapping fingers, Neurogenic bladder OMIM:608779
Osteopetrosis, Autosomal Recessive 5
Osteopetrosis OMIM:259720
Cardioacrofacial Dysplasia 1
Limb undergrowth, Genu valgum, Postaxial polydactyly OMIM:619142
Zellweger Syndrome
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Epiphyseal stippling ORPHA:912
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Increased susceptibility to fractures, Abnormal cortical bone morphology ORPHA:2769
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hydronephrosis, Splenomegaly, Micropenis, Hepatosplenomegaly, Postaxial hand polydactyly, Abnorma... ORPHA:1655
Igg4-Related Kidney Disease
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... ORPHA:449395
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Decreased palmar creases, Tapered finger, Nephrolithiasis, Slen... ORPHA:2953
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Bilateral talipes equinovarus... ORPHA:49
Kleefstra Syndrome
Hypospadias, Hydronephrosis, Talipes equinovarus, Renal cyst, Micropenis, Vesicoureteral reflux, ... ORPHA:261494
Joubert Syndrome 14
Renal cyst, Postaxial polydactyly OMIM:614424
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Ureteral duplication, Hydronephrosis, Renal dysplasia, Bladder trabecu... OMIM:614080
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Brachydactyly ORPHA:457193
3Mc Syndrome 1
Hydronephrosis, Short 5th finger, Short foot, Caudal appendage, Clinodactyly of the 5th finger, S... OMIM:257920
Testicular teratoma, Leukocytosis, Renal insufficiency, Recurrent cutaneous abscess formation ORPHA:764
Jacobsen Syndrome
Broad hallux phalanx, Hydronephrosis, Toe syndactyly, Short toe, Bone marrow hypocellularity, Fin... ORPHA:2308
Sotos Syndrome
Hypospadias, 2-3 toe syndactyly, Astrocytoma, Acute lymphoblastic leukemia, Talipes equinovarus, ... ORPHA:821
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Renal agenesis, Short clavicles, Humeral pseudarthrosis, Nephrocalci... ORPHA:2044
Stromme Syndrome
Bilateral renal hypoplasia, Accessory spleen, Hydronephrosis, Preaxial polydactyly OMIM:243605
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Polydactyly, Rhabdomyosarcoma, Palmar pits, Basal cell carcin... ORPHA:77301
Raine Syndrome
Hydronephrosis, Bowing of the long bones, Long hallux, Hydroureter, Micromelia, Brachydactyly OMIM:259775
Hyperphosphatasia-Intellectual Disability Syndrome
Shortening of all distal phalanges of the fingers, Hydronephrosis, Hip dysplasia, Clinodactyly ORPHA:247262
Microphthalmia, Syndromic 9
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal malrotation, Pelvic kidney, Multilobula... OMIM:601186
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
2-3 toe syndactyly, Hydronephrosis, Tapered finger, Pelvic kidney, Overlapping toe, Micropenis, V... OMIM:618653
Cardiac Valvular Defect, Developmental
Urethral diverticulum, Hydronephrosis, Hydroureter OMIM:212093
Trisomy 18
Hydronephrosis, Abnormality of the upper limb, Narrow pelvis bone, Deviation of finger, Bilateral... ORPHA:3380
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Hydronephrosis, Tapered finger, Pelvic kidney, Renal cyst, Short toe, Micropenis, Sh... ORPHA:464311
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Koolen-De Vries Syndrome
Hydronephrosis, Narrow palm, Slender finger, Recurrent urinary tract infections, Hip dislocation,... OMIM:610443
Cardiofaciocutaneous Syndrome 1
Cavernous hemangioma, Hydronephrosis, Cubitus valgus, Splenomegaly, Clinodactyly of the 5th finge... OMIM:115150
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Duplication of the distal phalanx of hand, Rhizomelia, Broad toe, Small hand, Ren... OMIM:180700
Bardet-Biedl Syndrome 1
Postaxial polydactyly, Foot polydactyly, Radial deviation of finger, Micropenis, Syndactyly, Shor... OMIM:209900
Cranioectodermal Dysplasia 3
Postaxial polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Sandal gap, Syndactyly, ... OMIM:614099
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Hypospadias, Renal cortical cysts, Proximal femoral metaphyseal irregularity, Abnormal acetabulum... ORPHA:397715
3Mc Syndrome 3
Horseshoe kidney, Penoscrotal hypospadias, Preaxial polydactyly, Micropenis, Clinodactyly, Radiou... OMIM:248340
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Short greater sciatic notch, Talipes equinovarus, Broad toe, Splenomegaly, 2-3 finge... OMIM:312870
Fryns Syndrome
Hypospadias, Hydronephrosis, Multicystic kidney dysplasia, Short distal phalanx of finger, Vesico... ORPHA:2059
Meier-Gorlin Syndrome 7
Hypospadias, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Bowing of the legs, Clubbing,... OMIM:617063
Johanson-Blizzard Syndrome
Hypospadias, Hydronephrosis, Hypoplasia of penis, Anemia ORPHA:2315
Kabuki Syndrome
Hypospadias, Hydronephrosis, Short middle phalanx of finger, Abnormal localization of kidney, Dup... ORPHA:2322
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Joubert Syndrome 39
Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxial polydactyly OMIM:619562
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Tapered finger, Proximal placement o... ORPHA:487796
Orofaciodigital Syndrome I
Polydactyly, Hypothalamic hamartoma, Abnormality of toe, Radial deviation of finger, Polycystic k... OMIM:311200
Lenz-Majewski Hyperostotic Dwarfism
Elbow ankylosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral density... ORPHA:2658
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial polydactyly, Micropenis, Postaxial hand polydactyly, Proteinuria, P... OMIM:619471
Hydronephrosis, Broad ischia, Radial deviation of the thumb, Talipes equinovarus, Abnormal renal ... ORPHA:79328
Oeis Complex
Hydronephrosis, Renal agenesis, Talipes equinovarus, Vesicovaginal fistula, Pelvic kidney, Duplic... OMIM:258040
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydronephrosis, Flexion contracture of toe, Tapered finger, Hypertrophy of the urinary bladder, C... ORPHA:280633
Pseudoaminopterin Syndrome
Horseshoe kidney, Asplenia, Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis of car... ORPHA:221120
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Ureteral duplication, Toe syndactyly, Hand oligodactyly, Short ... OMIM:305600
Fryns Syndrome
Hypospadias, Ureteral duplication, Renal agenesis, Hydronephrosis, Rocker bottom foot, Renal cyst... OMIM:229850
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Hypospadias, Hydronephrosis, Renal agenesis, Tapered finger, Chordee, Pelvic kidney, Short finger... OMIM:619522
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Recurrent fractures, Osteoporosis, Thin bony cortex, Hyperextensibility of the finger joints OMIM:309583
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydronephrosis, Spinal neurofibromas, Optic nerve glioma, Large hands, Hemangioma, Lisch nodules,... ORPHA:363700
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Postaxial polydactyly, Rhizomelia, Renal cyst, Preaxial polydactyly, Flat aceta... OMIM:616300
Erdheim-Chester Disease
Hydronephrosis, Abnormality of epiphysis morphology, Dysuria, Anemia, Abnormality of the metaphys... ORPHA:35687
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Renal dysplasia, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicour... ORPHA:2237
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Toe syndactyly, Hydronephrosis, Renal agenesis, Renal dysplasia, Duplicated collecting system, Sp... OMIM:129900
Osteopetrosis, Increased bone mineral density ORPHA:35107
Faciocardiomelic Syndrome
Thin bony cortex, Osteopenia OMIM:612731
Cardiofaciocutaneous Syndrome
Cavernous hemangioma, Hydronephrosis, Abnormality of the ulna, Palmoplantar keratoderma, Cubitus ... ORPHA:1340
Duodenal Neuroendocrine Tumor
Hydronephrosis, Iron deficiency anemia, Insulinoma, Paraganglioma, Intestinal carcinoid, Glucagon... ORPHA:100076
Osteopetrosis With Renal Tubular Acidosis
Hydronephrosis, Leukopenia, Renal tubular acidosis, Bone marrow hypocellularity, Nephrolithiasis,... ORPHA:2785
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydactyly, Postaxial polydac... ORPHA:404440
Oculodentodigital Dysplasia
Cranial hyperostosis, Hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger ORPHA:2710
Robinow Syndrome
Hydronephrosis, Bifid distal phalanx of the thumb, Mesomelic arm shortening, Radioulnar dislocati... ORPHA:97360
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Adducted thumb, Talipes equinovarus, Nephrotic syndrome, Arachnodactyly OMIM:601776
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Bladder diverticulum, Sandal gap OMIM:613177
7Q11.23 Microduplication Syndrome
Hypospadias, Hydronephrosis, Long fingers, Cubitus valgus, Unilateral renal agenesis, Enuresis, S... ORPHA:96121
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Hydronephrosis, Toe syndactyly, Hypoplasia of the radius, Finger syndactyly, Ab... ORPHA:2363
Genitopatellar Syndrome
Hydronephrosis, Patellar aplasia, Talipes equinovarus, Congenital hip dislocation, Multicystic ki... OMIM:606170
Congenital Sialidosis Type 2
Hepatosplenomegaly, Polydactyly, Abnormality of the kidney ORPHA:93400
Baraitser-Winter Cerebrofrontofacial Syndrome
Duplication of thumb phalanx, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract ORPHA:2995
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Hydronephrosis, Anomaly of lower limb diaphyses, Hemangioma, Renal duplication, Arac... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Hydronephrosis, Anomaly of lower limb diaphyses, Hemangioma, Renal duplication, Arac... ORPHA:363958
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Tapered finger, Ureteropelvic junction obstruction, Slender long bone, Single tra... ORPHA:444072
Weill-Marchesani Syndrome 1
Joint stiffness, Thin bony cortex OMIM:277600
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Pelvic kidney, Joint contracture of the hand, Camptodactyly, Clinodactyly of the 5th... OMIM:247200
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis, Upper limb undergrowth, Talipes equinovarus, Duplication of phalanx ... OMIM:236680
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Hydronephrosis, Arachnodactyly, Micropenis, Contracture of the distal interpha... ORPHA:83617
Adnp Syndrome
2-3 toe syndactyly, Polydactyly, Abnormality of toe, Abnormality of finger, Recurrent urinary tra... ORPHA:404448
Doors Syndrome
Thrombocytosis, Hydronephrosis, Triphalangeal thumb, Sirenomelia, Nephrocalcinosis, Abnormality o... ORPHA:79500
Coffin-Siris Syndrome 1
Hypospadias, Renal hypoplasia, Hydronephrosis, Aplasia/Hypoplasia of the patella, Prominent inter... OMIM:135900
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Hydronephrosis, Small intestine carcinoid ORPHA:100078
Jejunal Neuroendocrine Tumor
Iron deficiency anemia, Zollinger-Ellison syndrome, Hydronephrosis, Small intestine carcinoid ORPHA:100077
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Urethrovaginal fistula, Renal cyst, Abnormality of the metaphys... ORPHA:93271
Degcags Syndrome
Hypospadias, Talipes equinovarus, Hepatosplenomegaly, Syndactyly, Chronic kidney disease, Pancyto... OMIM:619488
Osteogenesis Imperfecta, Type Vii
Hydronephrosis, Bowing of the legs, Rhizomelia, Crumpled long bones, Coxa vara, Protrusio acetabu... OMIM:610682
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hypospadias, Hydronephrosis, Meningioma, Polydactyly, Adducted thumb, Abnormality of the urinary ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hypospadias, Hydronephrosis, Meningioma, Polydactyly, Adducted thumb, Abnormality of the urinary ... ORPHA:353277
1P36 Deletion Syndrome
Hypospadias, Abnormality of the spleen, Hydronephrosis, Neuroblastoma, Renal cyst, Foot polydacty... ORPHA:1606
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Postaxial polydactyly, Aplastic clavicle, Preaxial polydactyly, Micropenis, Micromelia OMIM:616546
Cranioectodermal Dysplasia 2
Polydactyly, Polysplenia, Rhizomelia, Renal cyst, Clinodactyly, Splenomegaly, Syndactyly, Mesomel... OMIM:613610
Floating-Harbor Syndrome
Hypospadias, Hydronephrosis, Congenital posterior urethral valve, Nephrocalcinosis, Clinodactyly ... OMIM:136140
Kinsship Syndrome
Horseshoe kidney, Renal hypoplasia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Hip ... OMIM:619297
Opsoclonus-Myoclonus Syndrome
Neuroblastoma, Neoplasm of the lung, Neoplasm, Breast carcinoma, Ovarian teratoma, Small cell lun... ORPHA:1183
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Hydronephrosis, Meningioma, Spinal cord tumor, Abnormality of the urinary system, Av... ORPHA:353281
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hallux valgus, Hydronephrosis, Curved fingers, Postaxial polydactyly, Tapered finger, Renal dyspl... ORPHA:480880
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Hip dysplasia, Abnormality of bladder morphology, Vesicoureteral reflux ORPHA:453499
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Hamartoma of tongue, Postaxial polydactyly, Fibular hypoplasia, Preaxial polydactyly, Micropenis,... OMIM:617925
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Hypospadias, Hydronephrosis, Decreased palmar creases, Hand clenching, Joint contracture of the h... OMIM:218649
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Culler-Jones Syndrome
Micropenis, Postaxial polydactyly OMIM:615849
Cockayne Syndrome Type 3
Renal hypoplasia, Hydronephrosis, Urinary retention, Splenomegaly, Unilateral renal agenesis, Hyd... ORPHA:90324
Peters-Plus Syndrome
Hypospadias, Renal hypoplasia, Ureteral duplication, Hydronephrosis, Broad palm, Short metatarsal... OMIM:261540
Pallister-Hall Syndrome
Hypospadias, Polydactyly affecting the 4th finger, Renal dysplasia, Broad toe, Mesoaxial polydact... ORPHA:672
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Talipes equinovarus, Postaxial polydactyly, Hip dysplasia, Vesicoureteral reflux ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Talipes equinovarus, Postaxial polydactyly, Hip dysplasia, Vesicoureteral reflux ORPHA:352665
Tetrasomy 9P
Horseshoe kidney, Hydronephrosis, Talipes equinovarus, Hypoplastic scapulae, Renal dysplasia, Sma... ORPHA:3310
Frank-Ter Haar Syndrome
Camptodactyly, Osteoporosis, Cortical irregularity, Osteopenia OMIM:249420
Osteogenesis Imperfecta
Fractures of the long bones, Increased susceptibility to fractures, Osteoporosis, Abnormal cortic... ORPHA:666
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Asplenia ORPHA:210122
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hydroureter, Hip dysplasia OMIM:619426
Weill-Marchesani Syndrome 2
Joint stiffness, Thin bony cortex, Flexion contracture of toe, Elbow flexion contracture OMIM:608328
Autosomal Recessive Malignant Osteopetrosis
Recurrent fractures, Osteopetrosis, Craniosynostosis, Reduced bone mineral density ORPHA:667
Granulomatosis With Polyangiitis
Hydronephrosis, Hematuria, Ureteral stenosis, Glomerulopathy, Granulomatosis, Proteinuria, Renal ... ORPHA:900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655