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Gene: Hivep3 MGI:106589

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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
phenotypes		 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
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Syndactyly, Type Iv
Polydactyly, Triphalangeal thumb, 6 metacarpals, 2-3 toe syndactyly, 1-5 finger syndactyly, Posta... OMIM:186200
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormal thumb morphology, Partial duplication of the distal phalanx of the hallux, Bifid distal ... ORPHA:2669
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Duplication of phalanx of hallux, Dupl... OMIM:174500
Synpolydactyly 1
Clinodactyly of the 5th finger, 6 metacarpals, Finger syndactyly, Short middle phalanx of the 5th... OMIM:186000
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Testicular Germ Cell Tumor
Choriocarcinoma, Teratoma, Embryonal neoplasm OMIM:273300
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Triphalangeal Thumb With Polysyndactyly
Triphalangeal thumb, Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Preaxial hand po... OMIM:190605
Gonadoblastoma
Gonadoblastoma OMIM:424500
Testicular Germ Cell Tumor 1
Germ cell neoplasia OMIM:300228
Gnathodiaphyseal Dysplasia
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Polydactyly, Postaxial, Type A1
Preaxial polydactyly, Triphalangeal thumb, Postaxial hand polydactyly, Y-shaped metacarpals, Broa... OMIM:174200
Polydactyly, Postaxial, Type A10
Postaxial polydactyly type A, Postaxial hand polydactyly, Postaxial foot polydactyly OMIM:618498
Camptosynpolydactyly, Complex
Polydactyly, Cutaneous syndactyly, Syndactyly, Camptodactyly OMIM:607539
Bardet-Biedl Syndrome 11
Polydactyly, Abnormality of the kidney OMIM:615988
Bardet-Biedl Syndrome 14
Polydactyly, Renal insufficiency OMIM:615991
Hallux Varus And Preaxial Polysyndactyly
Preaxial hand polydactyly, Hallux varus, Broad hallux, Syndactyly OMIM:234280
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Overlapping fingers, Sandal gap, Short hallux, Absent dorsal skin creases over affected joints, P... OMIM:618167
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Gestational Choriocarcinoma
Choriocarcinoma, Trophoblastic tumor, Neoplasm ORPHA:99926
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A... ORPHA:2838
Santos Syndrome
Polydactyly, Preaxial polydactyly, Genu valgum, Oligodactyly, Metatarsus adductus, Postaxial poly... OMIM:613005
Bardet-Biedl Syndrome 10
Polydactyly, Renal insufficiency, Renal cyst OMIM:615987
Teratoma, Pineal
Polyuria, Teratoma OMIM:273120
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias
Glandular hypospadias, Postaxial hand polydactyly, Short 2nd toe, Short thumb, Short 5th finger OMIM:176305
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
Ghosal Hematodiaphyseal Dysplasia
Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:1802
Polydactyly, Preaxial Iii
Preaxial polydactyly, Triphalangeal thumb OMIM:174600
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Hydronephrosis DECIPHER:70
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Abnormal hip bone morphology, Renal agenesis, Upper limb phocomelia, Syndactyly ORPHA:294975
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Bardet-Biedl Syndrome 5
Polydactyly, Micropenis, Syndactyly, Brachydactyly OMIM:615983
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Ring Chromosome 8 Syndrome
Deviation of finger, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Serrated Polyposis Syndrome
Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Breast ca... ORPHA:157798
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Caffey Disease
Subperiosteal bone formation, Calvarial hyperostosis, Cortical irregularity, Periosteal thickenin... OMIM:114000
Familial Expansile Osteolysis
Thin bony cortex, Pathologic fracture, Osteolysis OMIM:174810
Fibular Dimelia-Diplopodia Syndrome
Sacrococcygeal teratoma, Absent tibia ORPHA:1757
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Jawad Syndrome
Single interphalangeal crease of fifth finger, Short middle phalanx of the 5th finger, 4-5 toe sy... OMIM:251255
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Immunodeficiency, Common Variable, 6
Enlarged kidney, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immune complex dep... OMIM:613496
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the distal phalanx of the hallux, Aplasia/Hypoplasia of the phalanges of th... ORPHA:488232
Caffey Disease
Periosteal thickening of long tubular bones, Calvarial hyperostosis, Cortical irregularity, Corti... ORPHA:1310
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Eiken Syndrome
Abnormal bone ossification, Delayed epiphyseal ossification, Abnormal trabecular bone morphology,... ORPHA:79106
Osteoporosis
Osteoporosis OMIM:166710
Schinzel-Giedion Midface Retraction Syndrome
Tibial bowing, Ureteral stenosis, Short distal phalanx of finger, Increased density of long bones... OMIM:269150
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Abnormal cortical bone morphology, Osteolysis ORPHA:970
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Ectrodactyly-Polydactyly Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Postaxial hand polydactyly, Ectrodactyly, Camp... ORPHA:1892
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multicystic kidney dysplasia, Triphalangeal thumb, Preaxial foot polydactyly, Postaxial hand poly... ORPHA:2091
Acropectoral Syndrome
Preaxial polydactyly, Triphalangeal thumb, Partial duplication of thumb phalanx OMIM:605967
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Polydactyly, Postaxial, Type A8
Postaxial polydactyly, Genu valgum OMIM:618123
Bardet-Biedl Syndrome 4
Polydactyly, Abnormality of the kidney, Renal cyst, Syndactyly, Brachydactyly OMIM:615982
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Synpolydactyly 2
Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, Toe syndactyly, Car... OMIM:608180
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Bardet-Biedl Syndrome 13
Polydactyly OMIM:615990
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets, Generalized bone demineralization, Rickets of the lower limbs, Delayed epiphyseal ossifi... OMIM:600785
Li-Fraumeni Syndrome
Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma... OMIM:151623
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Thin bony cortex ORPHA:75508
Bardet-Biedl Syndrome 16
Polydactyly, Renal cyst, Renal agenesis, Renal dysplasia, Stage 5 chronic kidney disease, Renal i... OMIM:615993
Meckel Syndrome, Type 11
Polydactyly, Polycystic kidney dysplasia OMIM:615397
Bardet-Biedl Syndrome 19
Y-shaped metacarpals, Postaxial polydactyly, Renal hypoplasia, Hydronephrosis, Mesoaxial hand pol... OMIM:615996
Cranio-Osteoarthropathy
Joint stiffness, Arthritis, Abnormal cortical bone morphology, Osteoarthritis ORPHA:1525
Orofaciodigital Syndrome Xv
Duplication of phalanx of hallux, Hydronephrosis, Postaxial hand polydactyly, Broad hallux OMIM:617127
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Split-Foot Malformation With Mesoaxial Polydactyly
Split hand, 4-5 toe syndactyly, Split foot, 1-2 toe syndactyly, Mesoaxial hand polydactyly OMIM:616890
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Bardet-Biedl Syndrome 7
Polydactyly, 2-3 toe syndactyly, Clinodactyly, Postaxial polydactyly OMIM:615984
Schinzel-Giedion Syndrome
Tibial bowing, Short distal phalanx of finger, Overlapping toe, Facial hemangioma, Hypospadias, E... ORPHA:798
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Orofaciodigital Syndrome Xviii
Preaxial polydactyly, Genu valgum, Urinary incontinence, Sandal gap, Single transverse palmar cre... OMIM:617927
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Thin bony cortex OMIM:265900
Macdermot-Winter Syndrome
Camptodactyly of finger, Hydronephrosis OMIM:247990
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Abnormality of the urinary system OMIM:213010
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Proximal placement of thumb, Finger a... OMIM:602418
Florid Cemento-Osseous Dysplasia
Multiple bony cystic lesions, Abnormal bone structure, Abnormal trabecular bone morphology, Mandi... ORPHA:83451
Image Syndrome
Hydronephrosis, Metaphyseal dysplasia, Hypospadias, Micromelia ORPHA:85173
8P23.1 Duplication Syndrome
Exostoses, Toe syndactyly, Hydronephrosis ORPHA:251076
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Metatropic Dysplasia
Abnormal cortical bone morphology, Abnormal enchondral ossification, Joint stiffness, Camptodacty... ORPHA:2635
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Li-Fraumeni Syndrome
Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp... ORPHA:524
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Single transverse palmar crease, Absent ... OMIM:176240
Fanconi Anemia, Complementation Group O
Hypoplasia of the radius, Proximal placement of thumb, Renal cyst, Hydronephrosis, Absent thumb, ... OMIM:613390
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia, Hand polydactyly OMIM:236110
Nephronophthisis 15
Polydactyly, Nephronophthisis OMIM:614845
Carpenter Syndrome
Polydactyly, Genu valgum, Finger syndactyly, Postaxial hand polydactyly, Polysplenia, Broad thumb... ORPHA:65759
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Urofacial Syndrome 1
Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia OMIM:188740
Osteogenesis Imperfecta, Type Xxii
Multiple prenatal fractures, Reduced bone mineral density, Recurrent fractures, Thin bony cortex OMIM:619795
Mesomelia-Synostoses Syndrome
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... ORPHA:2496
Currarino Syndrome
Vesicoureteral reflux, Sacrococcygeal teratoma, Hypospadias, Hypoplasia of penis ORPHA:1552
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thrombocytopenia, Neutro... OMIM:598500
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Osteopetrosis, Cortical sclerosis, Pathologic fracture OMIM:620366
Bardet-Biedl Syndrome 12
Polydactyly, Cystic renal dysplasia, Hydroureter, Postaxial hand polydactyly, Hydronephrosis, Pos... OMIM:615989
Proteus Syndrome
Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Thin bony cortex OMIM:176920
Cat-Eye Syndrome
Abnormal localization of kidney, Renal hypoplasia/aplasia, Hydronephrosis, Hip dysplasia ORPHA:195
Orofaciodigital Syndrome Xvii
Polydactyly, Clubbing of fingers, Central Y-shaped metacarpal, Renal hypoplasia, Partial duplicat... OMIM:617926
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Stage 5 chronic kidney disease, Short long bone, Brachydactyly OMIM:613819
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology OMIM:300831
6P22 Microdeletion Syndrome
Finger syndactyly, Hydronephrosis, Clinodactyly ORPHA:251046
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Joubert Syndrome 16
Polydactyly, Nephronophthisis, Renal cyst OMIM:614465
Bardet-Biedl Syndrome 8
Postaxial polydactyly, Renal dysplasia, Hypospadias OMIM:615985
Bardet-Biedl Syndrome 9
Polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Syndactyly, Brachydactyly, Renal ... OMIM:615986
Microphthalmia, Isolated 4
Postaxial polydactyly OMIM:613094
Aicardi Syndrome
Proximal placement of thumb, Lipoma, Carcinoma, Metastatic angiosarcoma, Teratoma, Hemangioma, He... OMIM:304050
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Stomach cancer, Neoplasm of the skin, Ovarian dermo... ORPHA:480536
Gorham-Stout Disease
Osteopenia, Abnormal bone ossification, Osteolysis involving bones of the lower limbs, Osteolysis... ORPHA:73
Joubert Syndrome 20
Postaxial polydactyly, Renal cyst, 4-5 toe syndactyly OMIM:614970
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Abnormal cortical bone morphology, Recurrent fractures ORPHA:1486
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Foot polydactyly, Renal agenesis, Postaxial hand polydactyly ORPHA:2155
Bardet-Biedl Syndrome 17
Polydactyly, Polyuria, Mesoaxial polydactyly, Postaxial hand polydactyly, Renal cyst, Short fourt... OMIM:615994
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Endove Syndrome, Limb-Brain Type
Aplasia of the 3rd finger, Talar aplasia, Recurrent urinary tract infections, Neurogenic bladder,... OMIM:619218
Desmoid Tumor
Fibroma, Intestinal polyposis, Neoplasm of the skin, Abnormality of the upper urinary tract, Hydr... ORPHA:873
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Meningioma, Syndactyly, Nephroblastoma, Leukemia OMIM:602501
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Joubert Syndrome 17
Postaxial polydactyly, Abnormal renal morphology, Preaxial polydactyly, 3-4 finger syndactyly OMIM:614615
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Hamartoma, Syndactyly OMIM:300484
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Polydactyly, Abnormal B cell morphology, Hypospadias, Hypoplastic ischia OMIM:616910
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Sho... OMIM:620662
Bardet-Biedl Syndrome 3
Postaxial polydactyly, Renal hypoplasia, Brachydactyly OMIM:600151
Duplication Of The Pituitary Gland
Teratoma ORPHA:314621
Pallister-Hall Syndrome
Ectopic kidney, Hypothalamic hamartoma, Oligodactyly, Shortening of all distal phalanges of the f... OMIM:146510
X-Linked Intellectual Disability, Schimke Type
Hip contracture, Elbow flexion contracture, Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Carpenter Syndrome 1
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Pos... OMIM:201000
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Camptobrachydactyly
Urinary incontinence, Congenital finger flexion contractures, Hand polydactyly, Short toe, Syndac... OMIM:114150
Czeizel-Losonci Syndrome
Congenital megaureter, Hitchhiker thumb, Single transverse palmar crease, Ectrodactyly, Split foo... ORPHA:2437
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:600081
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Joubert Syndrome 18
Bowing of the long bones, Camptodactyly, Renal cyst, Postaxial polydactyly, Trident pelvis, Horse... OMIM:614815
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Postaxial polydactyly, Short long bone, Nephrocalcinosis, Brachydactyly OMIM:615633
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteo... OMIM:300554
Laurin-Sandrow Syndrome
Mirror image polydactyly, Tarsal synostosis, Abnormality of the wrist, Abnormal metacarpal morpho... ORPHA:2378
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Limited elbow extension, Diaphyseal undertubulation, Clinodactyly of the 5th finger, Proximal pla... OMIM:620663
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Short humerus, Absent thumb, Syndactyly, Absent radius, Renal ... OMIM:607323
Meckel Syndrome, Type 3
Polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Multicystic kidney dysplasia OMIM:607361
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Enlarged kidney, Polycystic kid... OMIM:613091
Bardet-Biedl Syndrome 22
Polydactyly, Postaxial foot polydactyly OMIM:617119
Joubert Syndrome 27
Polydactyly, Dilatation of the renal pelvis OMIM:617120
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly, Renal cyst, Hypospadias OMIM:605231
Ivic Syndrome
Hypoplasia of the ulna, Limited elbow movement, Hypoplasia of the radius, Preaxial polydactyly, H... OMIM:147750
Orofaciodigital Syndrome Type 10
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin... ORPHA:2756
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Flat acetabular... OMIM:617102
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Hydronephrosis, Dislocation of the femoral head, Congeni... OMIM:619797
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypospadias, Polycystic kidney dysplasia, Short long bone, Flat acetabular roof, Bow... OMIM:614091
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... OMIM:259710
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Absent tibia, Sp... ORPHA:93322
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Joint hypermobility, Recurrent fractures, Thin bony cortex OMIM:617952
Mckusick-Kaufman Syndrome
Tarsal synostosis, Renal hypoplasia/aplasia, Abnormal metacarpal morphology, Finger syndactyly, G... ORPHA:2473
Orofaciodigital Syndrome Iv
Short finger, Short tibia, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Brachydacty... OMIM:258860
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Preaxial polydactyly, Unilateral renal agenesis, Bilateral talipes equinovarus, Postaxial polydac... OMIM:618142
Laurence-Moon Syndrome
Polydactyly, Abnormality of the hand, Micropenis OMIM:245800
Joubert Syndrome 7
Genu valgum, Nephronophthisis, Postaxial hand polydactyly, Renal cyst, Postaxial polydactyly, Sta... OMIM:611560
Nevus Comedonicus Syndrome
Finger syndactyly, Toe syndactyly, Preaxial polydactyly, Hamartoma ORPHA:64754
Laurin-Sandrow Syndrome
Triphalangeal thumb, Absent tibia, Fibular duplication, Hand polydactyly, Patellar aplasia, Synda... OMIM:135750
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Giant platelets, Upper limb undergrowth, Hyposegmentation of n... OMIM:169400
Biemond Syndrome Type 2
Preaxial polydactyly, Hypospadias ORPHA:141333
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recur... OMIM:241530
Weismann-Netter Syndrome
Abnormal cortical bone morphology ORPHA:3344
Senior-Loken Syndrome 9
Polydactyly, Nephronophthisis, Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tu... OMIM:616629
Meckel Syndrome, Type 8
Polydactyly, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Talipes equino... OMIM:613885
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Hemolytic-uremic syndrome, Hypospadias, Giant platelets, Anemia, Single transverse pa... OMIM:611209
Meckel Syndrome, Type 10
Hypospadias, Postaxial hand polydactyly, Camptodactyly, Renal cyst, Postaxial polydactyly, Ulnar ... OMIM:614175
Prune Belly Syndrome
Hydroureter, Congenital hip dislocation, Hydronephrosis, Congenital posterior urethral valve, Tal... OMIM:100100
Kury-Isidor Syndrome
Rocker bottom foot, Proximal placement of thumb, Finger syndactyly, Hydronephrosis, Brachydactyly... OMIM:619762
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Prominent protruding coccyx, Dislocated radial head, Hypoplastic... ORPHA:2839
Pfeiffer Syndrome Type 3
Horseshoe kidney, Short hallux, Finger syndactyly, Vesicoureteral reflux, Broad thumb, Hallux var... ORPHA:93260
Orofaciodigital Syndrome Xi
Postaxial polydactyly OMIM:612913
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis, Brachydactyly, Slender long bone OMIM:618265
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Rocker bottom foot, Deep palmar crease, Hypospadias, Talipes equinovarus, Duplicated collecting s... OMIM:301056
Joubert Syndrome 35
Recurrent urinary tract infections, Single transverse palmar crease, Renal fibrosis, Hydronephros... OMIM:618161
Joubert Syndrome 15
Preaxial polydactyly, Nephronophthisis, Micropenis OMIM:614464
Melnick-Needles Syndrome
Abnormal metaphysis morphology, Osteolytic defects of the phalanges of the hand, Cone-shaped epip... ORPHA:2484
Cousin Syndrome
Fibular aplasia, Rhizomelia, Clinodactyly of the 5th finger, Prominent protruding coccyx, Disloca... OMIM:260660
Frontometaphyseal Dysplasia 1
Limited elbow movement, Genu valgum, Hydroureter, Partial fusion of carpals, Broad phalanges of t... OMIM:305620
ERI1-related disease
Limited elbow extension, Clinodactyly of the 5th finger, Dislocated radial head, Oligodactyly, Ve... OMIM:608739
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Proximal placement of thumb, Hand polydactyly, Short humerus, Hydronephrosis, Ur... OMIM:314390
Feingold Syndrome Type 1
Abnormality of the kidney, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Vesicoureteral ref... ORPHA:391641
Osteopetrosis, Autosomal Recessive 7
Femur fracture, Osteopetrosis, Anemia, Decreased circulating IgG level, Abnormal trabecular bone ... OMIM:612301
Baller-Gerold Syndrome
Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Apla... ORPHA:1225
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Megaloblastic anemia, Sideroblastic anemia, Hydronephrosis, Thro... OMIM:222300
Tetraploidy
Renal hypoplasia/aplasia, Radial club hand, Hydronephrosis ORPHA:3305
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Trisomy 13
Bilateral single transverse palmar creases, Capillary hemangioma, Postaxial hand polydactyly, Ect... ORPHA:3378
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Single transverse palmar crease, 2-3 toe syndactyly, Polycyst... OMIM:617866
Suleiman-El-Hattab Syndrome
Polydactyly, Single transverse palmar crease, Hydronephrosis, Brachydactyly, Clinodactyly OMIM:618950
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Dent Disease 1
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... OMIM:300009
Frontometaphyseal Dysplasia
Limited elbow movement, Dislocated radial head, Short metacarpal, Wrist flexion contracture, Broa... ORPHA:1826
Recombinant Chromosome 8 Syndrome
Hydronephrosis, Clinodactyly of the 5th finger, Camptodactyly, Joint contracture of the hand OMIM:179613
Al-Gazali-Bakalinova Syndrome
Polydactyly, Genu valgum, Epiphyseal dysplasia, Clinodactyly, Flattened epiphysis, Tapered finger OMIM:607131
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Prominent fingertip pads, Renal hypoplasia, Hydronephrosis, Hip dyspla... OMIM:618494
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Tetrasomy 15Q26
Arachnodactyly, Hydronephrosis, Horseshoe kidney, Camptodactyly OMIM:614846
Al-Gazali Syndrome
Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Wrist flexion con... OMIM:609465
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:264700
Tarp Syndrome
Rocker bottom foot, Hypoplasia of the radius, Deep palmar crease, Horseshoe kidney, Single transv... OMIM:311900
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Flared metaphysis, Decreased fibular diameter, Hydronephrosis, Limb undergrowth, Fra... OMIM:616897
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Zaki Syndrome
Broad distal phalanx of finger, Ectrodactyly, Hypoplasia of the phalanges of the toes, Renal agen... OMIM:619648
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Finger syndactyly, Renal agenesis, Hydronephros... ORPHA:887
Vitamin D-Dependent Rickets, Type 2A
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Recurrent fractures, Thin bony ... OMIM:277440
Retinitis Pigmentosa 51
Polydactyly, Abnormality of the kidney OMIM:613464
9Q21.13 Microdeletion Syndrome
Polydactyly, Hydronephrosis, Hip dysplasia ORPHA:531151
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Bilateral single transverse palmar creases, Hypoplasia of penis, Camptodactyly of finger, Hydrone... ORPHA:2083
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Polydactyly, Upper limb asymmetry, Clinodactyly of the 5th finger ORPHA:231140
Joubert Syndrome 37
Postaxial polydactyly, Hydronephrosis, Micropenis OMIM:619185
Senior-Loken Syndrome 8
Polydactyly, Nephronophthisis, Glomerular subepithelial immune-complex deposits, Global glomerulo... OMIM:616307
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Legius Syndrome
Polydactyly, Ovarian neoplasm, Clinodactyly of the 5th finger, Acute monocytic leukemia, Nephroli... ORPHA:137605
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Camptodactyly, Arachnodactyly, Hydronephr... ORPHA:314588
Mesomelia-Synostoses Syndrome
Carpometacarpal synostosis, Short metatarsal, Metacarpal synostosis, Distal femoral bowing, Parti... OMIM:600383
Meckel Syndrome, Type 2
Polydactyly, Postaxial hand polydactyly, Bowing of the long bones, Renal cyst OMIM:603194
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis OMIM:617306
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Patholog... OMIM:259700
Otopalatodigital Syndrome Type 2
Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Abnormal metacarpal morphology, Hypospa... ORPHA:90652
Orofaciodigital Syndrome Vi
Fibular aplasia, Radial deviation of finger, Hypothalamic hamartoma, Tibial bowing, Postaxial han... OMIM:277170
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Joubert Syndrome 23
Polydactyly OMIM:616490
Toluene Embryopathy
Hydronephrosis, Tapered finger, Abnormal localization of kidney ORPHA:1920
15q26 overgrowth syndrome
Abnormality of the kidney, Horseshoe kidney, Polycystic kidney dysplasia, Abnormal finger morphol... DECIPHER:81
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Postaxial hand polydactyly, Cong... OMIM:236700
Intellectual Developmental Disorder, Autosomal Dominant 23
Postaxial polydactyly, Broad distal phalanx of finger, Hypospadias, Sandal gap OMIM:615761
Trisomy 1Q
Congenital megaureter, Arachnodactyly, Camptodactyly of finger, Hydronephrosis, Preaxial hand pol... ORPHA:261344
Joubert Syndrome 40
Postaxial polydactyly OMIM:619582
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, Unilateral renal agenesis, Epiphyseal stippling,... OMIM:308050
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormal pelvic girdle bone morphology, Renal cyst, Abnormality of the ... ORPHA:1834
Focal Dermal Hypoplasia
Renal hypoplasia/aplasia, Finger syndactyly, Short clavicles, Split hand, Giant cell tumor of bon... ORPHA:2092
Cone-Rod Dystrophy 16
Postaxial polydactyly OMIM:614500
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger OMIM:620141
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
1Q21.1 Microdeletion Syndrome
Clinodactyly of the 5th finger, Vesicoureteral reflux, Broad thumb, Foot polydactyly, Hand polyda... ORPHA:250989
15Q Overgrowth Syndrome
Clinodactyly of the 5th finger, Abnormal renal morphology, Abnormal coccyx morphology, Arachnodac... ORPHA:314585
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Ectrodactyly, Microphallus, Syndactyly,... ORPHA:397590
Robinow Syndrome, Autosomal Recessive 1
Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Broad thumb, Mesome... OMIM:268310
Ventriculomegaly With Cystic Kidney Disease
Tubular luminal dilatation, Postaxial polydactyly, Hyperechogenic kidneys, Renal insufficiency, R... OMIM:219730
Microphthalmia, Lenz Type
Abnormal shoulder morphology, Clinodactyly of the 5th finger, Renal hypoplasia/aplasia, Hypospadi... ORPHA:568
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Rhabdomyosarcoma, Sandal gap, Recurrent urinary tract infections, 2-... OMIM:251260
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Retinitis Pigmentosa 89
Postaxial polydactyly, Hepatosplenomegaly OMIM:618955
3C Syndrome
Abnormal hip bone morphology, Hypospadias, Hypoplasia of penis, Finger syndactyly, Hand polydacty... ORPHA:7
Trisomy 17P
Clinodactyly of the 5th finger, Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve,... ORPHA:261290
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Hydronephrosis, Thrombocytopenia OMIM:300048
Houge-Janssens Syndrome 2
Unilateral renal agenesis, Postaxial polydactyly, Deviation of the 5th finger, Broad hallux, Hip ... OMIM:616362
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Clinodactyly of the 5th finger, Hydroureter, Single transverse palmar crease, Pelvic kidney, Vesi... OMIM:300707
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Syndactyly, Hypospadias OMIM:220210
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Delayed epiphyseal ossification, Leukocytosis, Splenomegaly, Sparse bone trabeculae, Ost... ORPHA:289157
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Monocytosis, Single transverse palmar crease, Rec... OMIM:612541
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Tapered toe, Long-chain dicarboxylic aciduria, Polycystic ... OMIM:608836
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Genu valgum, Clinodactyly of the 5th finger, Prominent fingertip pads, Broad thumb, Arachnodactyl... OMIM:619721
Fliedner-Zweier Syndrome
Hallux valgus, Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
20P13 Microdeletion Syndrome
Polydactyly, Finger syndactyly, Clinodactyly, Brachydactyly ORPHA:313781
Septooptic Dysplasia
Polydactyly, Short finger OMIM:182230
Dubowitz Syndrome
Clinodactyly of the 5th finger, Hypospadias, Sandal gap, Aplasia/Hypoplasia of the thumb, Anemia,... ORPHA:235
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Hypospadias, Renal insufficiency, Nephroblastoma, Nephropathy, Gonadoblastoma OMIM:194072
Takenouchi-Kosaki Syndrome
Proximal placement of thumb, Hypospadias, Unilateral renal agenesis, Tapered finger, Camptodactyl... OMIM:616737
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Hypospadias, Finger syndactyly, Single transverse palmar crease, 2-3 toe syn... ORPHA:464738
Orofaciodigital Syndrome Type 1
Tarsal synostosis, Clinodactyly of the 5th finger, Renal insufficiency, Finger syndactyly, Postax... ORPHA:2750
Teebi-Shaltout Syndrome
Rocker bottom foot, Caudal appendage, Single transverse palmar crease, Camptodactyly, Ureteral st... OMIM:272950
Genitopatellar Syndrome
Hypoplastic ilia, Hypoplastic ischia, Short palm, Hip contracture, Hydronephrosis, Patellar aplas... ORPHA:85201
Distal Duplication 6P
Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Endocrine-Cerebroosteodysplasia
Preaxial polydactyly, Enlarged kidney, Fibular bowing, Hypospadias, Sandal gap, Hitchhiker thumb,... OMIM:612651
Tarp Syndrome
Rocker bottom foot, Horseshoe kidney, Finger syndactyly, Single transverse palmar crease, Postaxi... ORPHA:2886
Mosaic Trisomy 9
Rocker bottom foot, Finger clinodactyly, Deep palmar crease, Hypoplasia of penis, Micromelia, Asp... ORPHA:99776
Branchio-Oculo-Facial Syndrome
Hemangioma, Renal agenesis, Hydronephrosis, Preaxial hand polydactyly, Multicystic kidney dysplasia ORPHA:1297
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Trisomy 20P
Abnormality of the kidney, Abnormal hip bone morphology, Hypospadias, Finger syndactyly, Abnormal... ORPHA:261318
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Anemia, Vesicoureteral reflux, Renal cyst, Postaxial polydactyly, Renal hyp... OMIM:618460
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Broad thumb, Splenomegaly, Neoplasm, Hypospadias, Post... ORPHA:373
Trisomy 8P
Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short 1st metacarpal, Clinodactyly o... ORPHA:264450
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Epiphyseal stippling, Stippled calcification in carpal bones, Abnormal pelvic girdle ... OMIM:302960
Congenital Myopathy 17
Overlapping fingers, Renal hypoplasia, Hand clenching, Clinodactyly, Hydronephrosis, Ureteropelvi... OMIM:618975
Currarino Syndrome
Perianal abscess, Urinary incontinence, Recurrent urinary tract infections, Neurogenic bladder, V... OMIM:176450
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Rocker bottom foot, Anemia, Hypospadias, Capillary hemangioma, Hyperextensibility of the finger j... ORPHA:163979
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Bilateral single transverse palmar creases, Ectopic kidney, Horseshoe kidney, Hypoplastic iliac w... OMIM:235510
Chromosome 2P16.1-P15 Deletion Syndrome
Calcaneovalgus deformity, Camptodactyly, Metatarsus adductus, Arachnodactyly, Hydronephrosis, Mic... OMIM:612513
Apert Syndrome
Limited elbow movement, Delayed epiphyseal ossification, Finger syndactyly, Broad distal phalanx ... OMIM:101200
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Radial deviation of finger, Hypochromic microcytic anemia, Hypospadias, Reduced a... OMIM:301040
Campomelic Dysplasia
Fibular hypoplasia, Tibial bowing, Femoral bowing, Short long bone, Bowing of the long bones, Hyp... ORPHA:140
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Finger clinodactyly, Renal hypoplasia/aplasia, Mesoaxial polydactyly, Hypot... ORPHA:2754
Syngap1-Related Developmental And Epileptic Encephalopathy
Postaxial polydactyly, Hypospadias ORPHA:544254
Conotruncal Heart Malformations
Postaxial polydactyly, Broad hallux OMIM:217095
Eec Syndrome
Renal hypoplasia/aplasia, Proximal placement of thumb, Hypospadias, Aplasia/Hypoplasia of the thu... ORPHA:1896
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Upper limb undergrowth, Recurrent urinary tract infections, Renal cyst... OMIM:614527
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metacarpal osteolysis, Ankle flexion contracture, Ankylosis of feet small joints, Car... OMIM:259600
Basal Cell Nevus Syndrome 1
Polydactyly, Short 4th metacarpal, Basal cell carcinoma, Cardiac rhabdomyoma, Palmar pits, Odonto... OMIM:109400
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Pachydermoperiostosis
Abnormal cortical bone morphology, Arthritis, Limitation of joint mobility, Osteoporosis, Osteoly... ORPHA:2796
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Micromelia, Postaxial polydactyly, Syndactyly, Brachy... OMIM:617895
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Ureteral triplication, Congenital hip dislocation, Hydronephrosis, Syndactyly OMIM:104350
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Short foot, Postaxial polydactyly, Hydronephrosis, Hip dysplasia, Renal dysplasia, Hip dislocatio... OMIM:300968
Dent Disease
Rickets, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Recurrent fractur... ORPHA:1652
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Short long bone, Femoral bowing, Acetabular spurs, Postaxial polydactyly, S... OMIM:615503
Vater/Vacterl Association
Hypoplasia of the radius, Preaxial polydactyly, Patent urachus, Triphalangeal thumb, Ectopic kidn... OMIM:192350
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Preaxial polydactyly ORPHA:2921
Chromosome 3Pter-P25 Deletion Syndrome
Postaxial polydactyly, Overlapping toe, Tapered finger, Abnormal renal morphology OMIM:613792
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Micropenis, Hydronephrosis ORPHA:1926
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Glandular hypospadias, Hydronephrosis, Brachydactyly, Uln... ORPHA:1358
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Melnick-Needles Syndrome
Limited elbow extension, Genu valgum, Osteolytic defects of the phalanges of the hand, Talipes eq... OMIM:309350
Autosomal Recessive Spastic Paraplegia Type 20
Abnormality of the hand, Abnormal thumb morphology, Genu valgum, Abnormal hand morphology, Dysuri... ORPHA:101000
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Rhombencephalosynapsis
Polydactyly, Finger syndactyly, Abnormal renal morphology, Short phalanx of finger, Complete dupl... ORPHA:59315
Intellectual Disability, Buenos-Aires Type
Hydronephrosis, Clinodactyly of the 5th finger, Abnormal pelvic girdle bone morphology ORPHA:3079
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Single transverse palmar crease, Wrist flexion contracture, Camptodactyly, Hydronephrosis, Flexio... ORPHA:254528
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Postaxial polydactyly, Hyperechoge... OMIM:614576
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Craniofacial osteosclerosis, Osteopetrosis, Increased skull ossification, Diaphyseal sclerosis OMIM:618476
Stüve-Wiedemann Syndrome
Osteopenia, Abnormal cortical bone morphology, Elbow flexion contracture, Limitation of joint mob... ORPHA:3206
Rothmund-Thomson Syndrome
Osteopenia, Aplastic anemia, Increased susceptibility to fractures, Reduced bone mineral density,... ORPHA:2909
Chime Syndrome
Acute leukemia, Abnormality of the kidney, Aplasia/Hypoplasia of the phalanges of the toes, Short... ORPHA:3474
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Arachnodactyly, Hydronephrosis, Renal d... ORPHA:96169
Autosomal Recessive Robinow Syndrome
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... ORPHA:1507
Severe Generalized Junctional Epidermolysis Bullosa
Renal tubular epithelial necrosis, Hydroureter, Anemia, Squamous cell carcinoma, Duplicated colle... ORPHA:79404
3P25.3 Microdeletion Syndrome
Proximal placement of thumb, Broad thumb, Postaxial polydactyly, Broad hallux, Congenital pseudoa... ORPHA:435638
2P15P16.1 Microdeletion Syndrome
Bilateral single transverse palmar creases, Sandal gap, Metatarsus adductus, Camptodactyly of fin... ORPHA:261349
Encephalocraniocutaneous Lipomatosis
Lipoma, Pelvic kidney, Astrocytoma, Hydronephrosis, Multiple central nervous system lipomas, Subc... OMIM:613001
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Noonan Syndrome 4
Thrombocytopenia, Ureteral duplication, Cubitus valgus, Hydronephrosis OMIM:610733
Igg4-Related Aortitis
Hypereosinophilia, Hydronephrosis ORPHA:449400
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx... OMIM:619269
Peroxisome Biogenesis Disorder 1A (Zellweger)
Rocker bottom foot, Cubitus valgus, Hypospadias, Epiphyseal stippling, Single transverse palmar c... OMIM:214100
Fibrous Dysplasia Of Bone
Rickets, Pathologic fracture, Abnormal bone structure, Cortical irregularity, Osteolysis, Osteoma... ORPHA:249
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bilateral single transverse palmar creases, Aplasia/hypoplasia of the femur, Broad distal phalanx... ORPHA:2636
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Normocytic anemia, Hematuria, Dysuria, Ne... ORPHA:49041
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Clinodactyly of the 5th finger, Anemia, Hypoplasia of penis, Recurrent... ORPHA:847
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Hypospadias, Po... OMIM:304120
22Q11.2 Duplication Syndrome
Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis ORPHA:1727
Retinitis Pigmentosa 74
Polydactyly, Abnormal renal morphology OMIM:616562
Dyrk1A-Related Intellectual Disability Syndrome
Polydactyly, Clinodactyly of the 5th finger, Hypospadias, Acromesomelia, Unilateral renal agenesi... ORPHA:464306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
X-Linked Dominant Chondrodysplasia Punctata
Epiphyseal stippling, Neonatal epiphyseal stippling, Upper limb asymmetry, Hydronephrosis, Talipe... ORPHA:35173
Cardioacrofacial Dysplasia 1
Postaxial polydactyly, Genu valgum, Limb undergrowth OMIM:619142
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatosplenomegaly, Hydronephrosis, Drumstick terminal phalanges, Duplicated collecting system ORPHA:541423
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Vesicoureteral reflux, Hydronephrosis, Hip dislocation OMIM:615926
Mosaic Trisomy 8
Deep palmar crease, Clinodactyly of the 5th finger, Vesicoureteral reflux, Camptodactyly of finge... ORPHA:96061
Smith-Lemli-Opitz Syndrome
Renal hypoplasia/aplasia, Proximal placement of thumb, Hypoplasia of penis, Mesomelia, Hip disloc... ORPHA:818
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Cranioectodermal Dysplasia 3
Nephronophthisis, Rhizomelia, Sandal gap, 2-3 toe syndactyly, Postaxial polydactyly, 2-4 toe synd... OMIM:614099
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Short clavicles, Exostoses, Pelvic bone exostoses, Short hu... OMIM:304150
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
8P Inverted Duplication/Deletion Syndrome
Clinodactyly of the 5th finger, Abnormality of the urinary system, Long fingers, Hydronephrosis, ... ORPHA:96092
Gm1-Gangliosidosis, Type Ii
Joint stiffness, Thin bony cortex OMIM:230600
Adult Acute Respiratory Distress Syndrome
Abnormality of tumor necrosis factor secretion, Abnormal circulating interleukin concentration, I... ORPHA:70578
Craniofacioskeletal Syndrome
Clinodactyly of the 5th finger, Hypospadias, Narrow iliac wing, Short palm, Hydronephrosis, Brach... OMIM:300712
Campomelic Dysplasia
Dislocated radial head, Hypoplastic iliac wing, Femoral bowing, Short long bone, Tibial bowing, C... OMIM:114290
Osteogenesis Imperfecta, Type X
Osteopenia, Decreased calvarial ossification, Joint hypermobility, Thin bony cortex, Generalized ... OMIM:613848
Congenital Disorder Of Glycosylation, Type Iiaa
Short long bone, Unilateral renal agenesis, Hydronephrosis, Bilateral talipes equinovarus OMIM:620454
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Prominent fingertip pads, Vesicoureteral reflux, Slender fing... OMIM:610443
Basel-Vanagaite-Smirin-Yosef Syndrome
Single transverse palmar crease, 2-3 toe syndactyly, Hydronephrosis, Hypospadias OMIM:616449
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Postaxial hand polydactyly, Hydronephrosis, Hepatosplenomegaly, Spleno... ORPHA:1655
Sotos Syndrome
Ureteral duplication, Congenital posterior urethral valve, Neoplasm, Abnormality of the kidney, H... ORPHA:821
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Short tibia, ... OMIM:616300
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Nephrolithiasis, Slender finger, Decreased palmar creases, Functional abnormali... ORPHA:2953
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Splenomegaly, Overlapping toe, Hip dislocation, 2-3 toe cutaneous sy... OMIM:270400
Distal Deletion 12Q
Clinodactyly of the 5th finger, Ectopic kidney, Single transverse palmar crease, 2-3 toe syndacty... ORPHA:96149
Rothmund-Thomson Syndrome Type 2
Osteopenia, Aplastic anemia, Finger symphalangism, Anemia, Synostosis involving bones of the uppe... ORPHA:221016
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Renal insufficiency, Vesicoureteral reflux, Renal cyst, Hydrone... ORPHA:261494
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Brachydactyly ORPHA:457193
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Postaxial hand polydactyly, Splenomegaly, Micropenis OMIM:235255
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Abnormal ilium morphology, Renal dysplasia, Vesicoureteral reflux, Ureteral... OMIM:614080
Rothmund-Thomson Syndrome Type 1
Osteopenia, Aplastic anemia, Finger symphalangism, Anemia, Abnormal trabecular bone morphology, L... ORPHA:221008
Gabriele-De Vries Syndrome
Sandal gap, Long fingers, Hydronephrosis, Ureteropelvic junction obstruction, Hallux valgus, Fing... OMIM:617557
Familial Osteodysplasia, Anderson Type
Abnormal cortical bone morphology, Recurrent fractures, Increased susceptibility to fractures ORPHA:2769
Pyomyositis
Recurrent cutaneous abscess formation, Renal insufficiency, Leukocytosis, Testicular teratoma ORPHA:764
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Congenital hip dislocation, Epiphyseal dysplasia, Renal hypoplasia, Nephro... OMIM:617913
Penile Agenesis
Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Bilateral talipes equinovarus,... ORPHA:49
Monosomy 9Q22.3
Polydactyly, Basal cell carcinoma, Rhabdomyosarcoma, Palmar pits, Odontogenic keratocysts of the ... ORPHA:77301
Au-Kline Syndrome
Clinodactyly of the 5th finger, Deep palmar crease, Vesicoureteral reflux, Postaxial polydactyly,... OMIM:616580
Stromme Syndrome
Preaxial polydactyly, Hydronephrosis, Bilateral renal hypoplasia, Accessory spleen OMIM:243605
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Pelvic kidney, 2-3 toe syndactyly, Vesicoureteral reflux, Hydronephrosis, Tibial torsion, Overlap... OMIM:618653
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Epiphyseal stippling ORPHA:912
Hyperphosphatasia-Intellectual Disability Syndrome
Shortening of all distal phalanges of the fingers, Hydronephrosis, Clinodactyly, Hip dysplasia ORPHA:247262
Igg4-Related Kidney Disease
Acute kidney injury, Enlarged kidney, Urethritis, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Joubert Syndrome 39
Postaxial polydactyly, Polycystic kidney dysplasia, Joint contracture of the 5th finger OMIM:619562
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Micropenis ORPHA:364028
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Contracture of the proximal interphalangeal joint of the 5th finger, Clinodactyly of the 5th fing... OMIM:280000
Orofaciodigital Syndrome V
Sandal gap, Postaxial hand polydactyly, Postaxial polydactyly, Hamartoma of tongue, Horseshoe kid... OMIM:174300
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic leg shortening, Hypospadias, Early ossification of capital femoral epiphyses, Renal co... ORPHA:397715
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Pelvic kidney, Short foot, Renal cyst, Hydronephrosis, Sh... ORPHA:464311
Johanson-Blizzard Syndrome
Hydronephrosis, Anemia, Hypospadias, Hypoplasia of penis ORPHA:2315
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Split hand, Ectrodactyly, Split... OMIM:604292
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis, Splenomegaly, Adducted thumb, Overlapping fingers OMIM:608779
Robinow Syndrome, Autosomal Dominant 1
Radial deviation of finger, Rhizomelia, Duplication of the distal phalanx of hand, Dislocated rad... OMIM:180700
Jacobsen Syndrome
Finger syndactyly, Toe clinodactyly, Bone marrow hypocellularity, Hand polydactyly, Toe syndactyl... ORPHA:2308
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Proximal placement of thumb, Hypospadias, Unilateral renal agenesis, Tapered finger, Camptodactyl... ORPHA:487796
Floating-Harbor Syndrome
Ivory epiphyses of the distal phalanges of the hand, Clinodactyly of the 5th finger, Hypospadias,... OMIM:136140
Focal Dermal Hypoplasia
Ureteral duplication, Short metacarpal, Split foot, Midclavicular hypoplasia, Short 4th metacarpa... OMIM:305600
Fryns Syndrome
Clinodactyly of the 5th finger, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Short distal ... ORPHA:2059
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Dislocated radial head, Hypoplastic iliac wing, Prominent fingert... OMIM:180849
3Mc Syndrome 3
Preaxial polydactyly, Penoscrotal hypospadias, Clinodactyly, Radioulnar synostosis, Micropenis, H... OMIM:248340
Trisomy 18
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Abnormality of the uppe... ORPHA:3380
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Genu valgum, Micropenis, Hydronephrosis OMIM:617798
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Short m... ORPHA:2322
Developmental Delay With Or Without Dysmorphic Facies And Autism
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Vesicoureteral reflux, Renal cyst, ... OMIM:618454
Floating-Harbor Syndrome
Hypospadias, Dislocated radial head, Short clavicles, Polycystic kidney dysplasia, Short metacarp... ORPHA:2044
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... ORPHA:2658
Fryns Syndrome
Rocker bottom foot, Ureteral duplication, Proximal placement of thumb, Hypospadias, Single transv... OMIM:229850
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Radial deviation of finger, Postaxial hand polydactyly, Foot polydacty... OMIM:209900
Cardiofaciocutaneous Syndrome 1
Clinodactyly of the 5th finger, Deep palmar crease, Cubitus valgus, Hyperextensibility of the fin... OMIM:115150
Meckel Syndrome 14
Polycystic kidney dysplasia, Postaxial hand polydactyly, Bowing of the long bones, Postaxial poly... OMIM:619879
Bardet-Biedl Syndrome 20
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial polydactyly, Proteinuria, Micropenis, P... OMIM:619471
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow greater sciatic notch, Enlarged kidney, Short greater sciatic notch, Flared iliac wing, Br... OMIM:312870
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Microphthalmia, Syndromic 9
Multilobulated spleen, Pelvic kidney, Renal hypoplasia, Hydronephrosis, Hypoplastic spleen, Renal... OMIM:601186
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Proportionate shortening of all digits, Flexion cont... ORPHA:280633
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, 2-3 toe syndactyly, Broad distal phalanx of finger, Postaxial foot polydac... ORPHA:404440
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Osteopetrosis, Decreased osteoclast count OMIM:259720
Pseudoaminopterin Syndrome
Clinodactyly of the 5th toe, Limited elbow movement, Short 4th metacarpal, Hip subluxation, Clubb... ORPHA:221120
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Thin bony cortex, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis OMIM:309583
Erdheim-Chester Disease
Abnormal metaphysis morphology, Anemia, Dysuria, Hydronephrosis, Abnormal epiphysis morphology, R... ORPHA:35687
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis ORPHA:2510
Alg9-Cdg
Narrow greater sciatic notch, Enlarged kidney, Rhizomelia, Hitchhiker thumb, Flared metaphysis, S... ORPHA:79328
Mitochondrial Complex Iii Deficiency, Nuclear Type 7
Postaxial polydactyly, Proximal renal tubular acidosis OMIM:615824
3Mc Syndrome 1
Caudal appendage, Clinodactyly of the 5th finger, Single interphalangeal crease of fifth finger, ... OMIM:257920
Raine Syndrome
Hydroureter, Bowing of the long bones, Micromelia, Long hallux, Hydronephrosis, Brachydactyly OMIM:259775
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Deep palmar crease, Genu valgum, Cubitus valgus, Abnormal morphology of... ORPHA:1340
Desmosterolosis
Increased bone mineral density, Osteopetrosis ORPHA:35107
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Split hand, Split foot, Uretero... OMIM:129900
Oculodentodigital Dysplasia
Hyperostosis, Cranial hyperostosis, Abnormal cortical bone morphology, Camptodactyly of finger ORPHA:2710
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Genu valgum, Abnormal tibia morphology, Spinal neurofibroma, Renal hypoplasia/aplasia, Abnormal r... ORPHA:363700
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Absent radius, Horseshoe kidney OMIM:115470
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Cong... OMIM:258040
Baraitser-Winter Cerebrofrontofacial Syndrome
Duplication of thumb phalanx, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract ORPHA:2995
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Short finger, Urinary incontinence, Clinodactyly of the 5th finger, Hypospadias, Abnormality of t... OMIM:619522
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Preaxial polydactyly, Polycystic kidney dysplasia, Micromelia, Postaxial polydactyly, Hamartoma o... OMIM:616546
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... ORPHA:2237
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Congenital Sialidosis Type 2
Polydactyly, Abnormality of the kidney, Hepatosplenomegaly ORPHA:93400
Cerebellar-Facial-Dental Syndrome
Slender long bone, Single transverse palmar crease, Hydronephrosis, Ureteropelvic junction obstru... ORPHA:444072
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Abnormal circulating interleukin concentration, Incr... ORPHA:542323
Robinow Syndrome
Webbed penis, Mesomelic arm shortening, Multicystic kidney dysplasia, Mesomelia, Bifid distal pha... ORPHA:97360
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Orofaciodigital Syndrome I
Polydactyly, Radial deviation of finger, Polycystic kidney dysplasia, Hypothalamic hamartoma, Sho... OMIM:311200
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Abnormal thumb morphology, Finger syndactyly, Vesicoureteral reflux, Ab... ORPHA:2363
Intellectual Developmental Disorder, Autosomal Dominant 42
Limited elbow extension, Neurogenic bladder, Narrow palm, Hand clenching, Hydronephrosis, Uretero... OMIM:616973
Miller-Dieker Lissencephaly Syndrome
Polydactyly, Clinodactyly of the 5th finger, Deep palmar crease, Single transverse palmar crease,... OMIM:247200
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Testicular neoplasm, Recurrent urinary tract infections, Prominent fingertip pads, V... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Testicular neoplasm, Recurrent urinary tract infections, Prominent fingertip pads, V... ORPHA:363958
Weill-Marchesani Syndrome 1
Joint stiffness, Thin bony cortex OMIM:277600
Adnp Syndrome
Polydactyly, Urinary incontinence, Sandal gap, Single transverse palmar crease, Abnormal finger m... ORPHA:404448
Macrophage Activation Syndrome
Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent... ORPHA:158061
Kinsship Syndrome
Polydactyly, Fibular hypoplasia, Dislocated radial head, Single transverse palmar crease, Renal h... OMIM:619297
Mend Syndrome
Polydactyly, 2-3 toe syndactyly, Long fingers, Broad hallux, Crossed fused renal ectopia, Overlap... OMIM:300960
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Short clavicles, Short long bone, Postaxial hand polydactyly, Postaxial polydac... OMIM:617088
Spondyloocular Syndrome
Osteopenia, Femur fracture, Thin bony cortex OMIM:605822
7Q11.23 Microduplication Syndrome
Cubitus valgus, Hypospadias, Unilateral renal agenesis, Single transverse palmar crease, Enuresis... ORPHA:96121
Osteopetrosis With Renal Tubular Acidosis
Anemia, Renal tubular acidosis, Pancytopenia, Nephrolithiasis, Bone marrow hypocellularity, Ellip... ORPHA:2785
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polydactyly, Widened distal phalanges, Abnormality of the kidney, Deviation of the hallux, Broad ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polydactyly, Widened distal phalanges, Abnormality of the kidney, Deviation of the hallux, Broad ... ORPHA:353277
Doors Syndrome
Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia, Clinodactyly of the 5th finger, ... ORPHA:79500
Degcags Syndrome
Abnormal spleen morphology, Leukopenia, Syndactyly, Congenital hypoplastic anemia, Polydactyly, H... OMIM:619488
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Spinal cord tumor, Broad distal phalanx of finger, Hypospadias, Abnormal proximal phalanx morphol... ORPHA:353281
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Single transverse palmar crease, B lymphocytopenia, Arachnodactyly, Severe B lymphocytopenia, Hyd... ORPHA:83617
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Crumpled long bones, Femoral retroversion, Micromelia, Coxa vara, Protrusio acetabuli... OMIM:610682
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Bifid first metacarpal, Femoral bowing, Short metacarpal, Short humerus, Hip... OMIM:210710
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Sandal gap, Accessory spleen, Single transverse palmar crease, Hypo... OMIM:613177
Coffin-Siris Syndrome 1
Clinodactyly of the 5th finger, Hydroureter, Sandal gap, Hypospadias, Dislocated radial head, Sin... OMIM:135900
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis, Hip dysplasia ORPHA:453499
Arboleda-Tham Syndrome
Enlarged proximal interphalangeal joints, Genu valgum, Deviation of the hallux, Hammertoe, Sandal... OMIM:616268
1P36 Deletion Syndrome
Abnormality of the kidney, Clinodactyly of the 5th finger, Hypospadias, Hypoplasia of penis, Rena... ORPHA:1606
Joubert Syndrome 14
Postaxial polydactyly, Renal cyst OMIM:614424
Meckel Syndrome, Type 1
Radial deviation of finger, Cystic renal dysplasia, Accessory spleen, Polycystic kidney dysplasia... OMIM:249000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abnormal metaphysis morphology, Hypoplasia of penis, Abnormal pelvis bone ossification, Postaxial... ORPHA:93271
Opsoclonus-Myoclonus Syndrome
Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas... ORPHA:1183
Hydrolethalus Syndrome 1
Hypospadias, Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of... OMIM:236680
Culler-Jones Syndrome
Postaxial polydactyly, Micropenis OMIM:615849
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration ORPHA:85435
Bardet-Biedl Syndrome
Hypoplasia of penis, Finger syndactyly, Neurogenic bladder, Vesicoureteral reflux, Postaxial poly... ORPHA:110
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Choanal Atresia
Polydactyly ORPHA:137914
Pallister-Hall Syndrome
Ectopic kidney, Mesoaxial polydactyly, Hypothalamic hamartoma, Oligodactyly, Broad thumb, Polydac... ORPHA:672
Ileal Neuroendocrine Tumor
Hydronephrosis, Zollinger-Ellison syndrome, Iron deficiency anemia, Small intestine carcinoid ORPHA:100078
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S... OMIM:617925
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Short foot, Slender finger, Congenital hip dislocation, Postaxial polydactyly, Hydronephrosis, Hi... ORPHA:480880
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal hypoplasia, Hydronephrosis, Spl... ORPHA:90324
Helsmoortel-Van Der Aa Syndrome
Polydactyly, Enlarged kidney, Genu valgum, Clinodactyly of the 5th finger, Sandal gap, Recurrent ... OMIM:615873
Tetrasomy 9P
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Recurrent urinary tra... ORPHA:3310
Cranioectodermal Dysplasia 2
Polydactyly, Rhizomelia, Postaxial hand polydactyly, Renal cyst, Mesomelia, Syndactyly, Brachydac... OMIM:613610
Frank-Ter Haar Syndrome
Osteopenia, Camptodactyly, Cortical irregularity, Osteoporosis OMIM:249420
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Postaxial polydactyly OMIM:603387
Oligoarticular Juvenile Idiopathic Arthritis
Increased circulating interferon-gamma concentration, Abnormal circulating interleukin concentration ORPHA:85410
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration ORPHA:319552
White-Kernohan Syndrome
Hydronephrosis, Hydroureter, Horseshoe kidney, Hip dysplasia OMIM:619426
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Postaxial polydactyly, Hydronephrosis, Hip dysplasia, Talipes equinovarus ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Postaxial polydactyly, Hydronephrosis, Hip dysplasia, Talipes equinovarus ORPHA:352665
Osteogenesis Imperfecta
Osteopenia, Reduced bone mineral density, Abnormal cortical bone morphology, Fractures of the lon... ORPHA:666
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Polydactyly, 3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadia... ORPHA:17
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis OMIM:614921
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Peters-Plus Syndrome
Limited elbow movement, Square pelvis bone, Ureteral duplication, Rhizomelia, Short metatarsal, P... OMIM:261540
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Asplenia ORPHA:210122
Weill-Marchesani Syndrome 2
Joint stiffness, Elbow flexion contracture, Flexion contracture of toe, Thin bony cortex OMIM:608328
Gabriele-De Vries Syndrome
Sandal gap, Sydney crease, Neuroblastoma, Hydronephrosis, Ureteropelvic junction obstruction, Hal... ORPHA:506358
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Hypospadias, Unilateral renal agenesis,... ORPHA:268261
Autosomal Recessive Malignant Osteopetrosis
Craniosynostosis, Osteopetrosis, Reduced bone mineral density, Recurrent fractures ORPHA:667
Granulomatosis With Polyangiitis
Glomerulopathy, Hematuria, Ureteral stenosis, Hydronephrosis, Proteinuria, Renal insufficiency, G... ORPHA:900
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Polydactyly ORPHA:314655
Partial Androgen Insensitivity Syndrome
Hypospadias, Germ cell neoplasia, Urogenital sinus anomaly, Perineal hypospadias, Micropenis ORPHA:90797
Complete Androgen Insensitivity Syndrome
Testicular neoplasm, Germ cell neoplasia ORPHA:99429
Peters Plus Syndrome
Ureteral duplication, Clinodactyly of the 5th finger, Rhizomelia, Renal hypoplasia/aplasia, Hypos... ORPHA:709
Monosomy 22Q13.3
Clinodactyly of the 5th finger, Vesicoureteral reflux, Large hands, Hydronephrosis, Recurrent pye... ORPHA:48652
Rajab Interstitial Lung Disease With Brain Calcifications 1
Rickets, Osteopenia, Reduced bone mineral density, Joint hypermobility, Thin bony cortex OMIM:613658
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Palmopl... OMIM:617527
Genitopatellar Syndrome
Multicystic kidney dysplasia, Inferior pubic ramus hypoplasia, Congenital hip dislocation, Hypopl... OMIM:606170
Lacrimoauriculodentodigital Syndrome 1
Hypoplasia of the ulna, Hypoplasia of the radius, Preaxial polydactyly, Clinodactyly of the 5th f... OMIM:149730
Hardikar Syndrome
Hydroureter, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hepatospl... OMIM:301068
Carpenter Syndrome 2
Preaxial polydactyly, Bilateral postaxial polydactyly, Clinodactyly of the 5th finger, Hitchhiker... OMIM:614976
Charge Syndrome
Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Vesicoureteral reflux, Hy... ORPHA:138
Kabuki Syndrome 1
Prominent fingertip pads, Congenital hip dislocation, Hydronephrosis, Ureteropelvic junction obst... OMIM:147920
Charge Syndrome
Hypoplasia of the ulna, Horseshoe kidney, Lymphopenia, Absent tibia, Hand monodactyly, Bilateral ... OMIM:214800
Craniotubular Dysplasia, Ikegawa Type
Sclerosis of skull base, Thin bony cortex OMIM:619727
Opitz Gbbb Syndrome
Hydronephrosis, Abnormality of the urinary system, Hypospadias, Vesicoureteral reflux ORPHA:2745
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Clinodactyly of the 5th finger, Unilateral renal agenesis, Postaxial polydactyly, Broad hallux, H... ORPHA:457284
Okamoto Syndrome
Polydactyly, Urinary incontinence, Hydronephrosis, Ureteropelvic junction obstruction, Splenomega... ORPHA:2729
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Arachnodactyly, Hydronephrosis, Adducted thumb, Talipes equinovarus OMIM:601776
Rabson-Mendenhall Syndrome
Polydactyly, Nephrocalcinosis, Long penis ORPHA:769
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Alstrom Syndrome
Polydactyly, Nephritis, Elevated hemoglobin A1c, Renal insufficiency, Tubulointerstitial nephritis OMIM:203800
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the hand, Abnormality of the kidney, Hydroureter, Oligodactyly, Ectrodactyly, Abno... ORPHA:2273
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Recurrent urinary tract infections, 2-3 toe syndactyly, Dilatation of renal calices,... ORPHA:3455
Aspartylglucosaminuria
Joint stiffness, Arthritis, Abnormal cortical bone morphology ORPHA:93
Cntnap2-Related Developmental And Epileptic Encephalopathy
Preaxial polydactyly ORPHA:163681
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Arachnodactyly, Syndactyly, Adducted thumb, Long toe, Hypospadias, Pelvic k... ORPHA:261537
Biliary, Renal, Neurologic, And Skeletal Syndrome
Polydactyly, Medullary nephrocalcinosis, Broad thumb, Postaxial polydactyly, Hydronephrosis, Broa... OMIM:619534
Knobloch Syndrome 1
Renal duplication, Hydronephrosis, Bifid ureter, Duplicated collecting system OMIM:267750
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Sandal gap, Toe clinodactyly, Long fingers, Hydronephrosis, Cutaneous syndactyly OMIM:620330
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the bladder, Asplenia, Hydronephrosis, Dilatation of the ... OMIM:265380
Liver Disease, Severe Congenital
Anemia, Hypospadias, Lymphocytosis, Recurrent urinary tract infections, Alpha-aminobutyric acidur... OMIM:619991
Neurocardiofaciodigital Syndrome
Polydactyly, Vesicoureteral reflux, Syndactyly OMIM:619869
Mowat-Wilson Syndrome
Urinary incontinence, Syndactyly, Adducted thumb, Long toe, Abnormality of the kidney, Hypospadia... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Arachnodactyly, Syndactyly, Duplication of renal pelvis, Adducted thumb, Lo... ORPHA:261552
Microphthalmia, Syndromic 6
Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Single t... OMIM:607932
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Sweet Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:3243
Viss Syndrome
Rocker bottom foot, Genu valgum, Exostosis of the external auditory canal, Contracture of the pro... OMIM:619472
Orofaciodigital Syndrome Xiv
Epispadias, Preaxial polydactyly, Postaxial hand polydactyly, Broad hallux, Hamartoma of tongue, ... OMIM:615948
Digeorge Syndrome
Anemia, Unilateral renal agenesis, Hypoplasia of the thymus, Hydronephrosis, Thrombocytopenia, Sp... OMIM:188400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis, Hip dysplasia ORPHA:438213
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Incr... ORPHA:3261
Cerebrooculonasal Syndrome
Postaxial polydactyly, Postaxial hand polydactyly OMIM:605627
Nmda Receptor Encephalitis
Testicular teratoma, Neoplasm of the lung, Ovarian teratoma, Neoplasm of the thymus, Neuroblastom... ORPHA:217253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Acrofacial Dysostosis, Cincinnati Type
Clinodactyly of the 5th finger, Flared lower limb metaphysis, Single transverse palmar crease, Fe... OMIM:616462
Loeys-Dietz Syndrome 2
Absent distal phalanges, Camptodactyly, Postaxial polydactyly, Arachnodactyly, Protrusio acetabul... OMIM:610168
Mullegama-Klein-Martinez Syndrome
Polydactyly, Clinodactyly of the 5th finger OMIM:301022
Loeys-Dietz Syndrome 1
Self-healing squamous epithelioma, Postaxial hand polydactyly, Camptodactyly, Postaxial polydacty... OMIM:609192
Johanson-Blizzard Syndrome
Clinodactyly of the 5th finger, Hypospadias, Single transverse palmar crease, Urethrovaginal fist... OMIM:243800
Combined Pituitary Hormone Deficiencies, Genetic Forms
Polydactyly, Abnormal digit morphology ORPHA:95494

Histopathology

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

There is no histopathology data for Hivep3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hivep3.

No publications found that use IMPC mice or data for Hivep3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Hivep3tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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