Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)
Synonyms:
ADAM-TS5,  9530092O11Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Adamts5 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 Adamts5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Syndactyly Type 1
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Syndactyly, Type Iii
Absent middle phalanx of 5th finger, 4-5 finger syndactyly, Syndactyly, Short 5th finger OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormality of finger OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Preaxial hand polydactyly, Syndactyly, Broad hallux OMIM:234280
Polydactyly, Postaxial, Type A5
Metacarpal synostosis, Cutaneous finger syndactyly, Postaxial hand polydactyly, Syndactyly OMIM:263450
Syndactyly Type 3
Camptodactyly of finger, Short toe, Finger syndactyly ORPHA:93404
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial hand polydactyly, Preaxial hand polydactyly, Duplication... OMIM:174500
Mental Retardation, Autosomal Recessive 33
Syndactyly, Short toe OMIM:614341
Split-Foot Malformation With Mesoaxial Polydactyly
Cutaneous syndactyly OMIM:616890
Synpolydactyly 1
6 metacarpals, 4-5 toe syndactyly, Y-shaped metacarpals, Finger syndactyly, 2nd-5th toe middle ph... OMIM:186000
Syndactyly Type 2
Camptodactyly of finger, Mesoaxial polydactyly, 2-3 toe syndactyly, Preaxial foot polydactyly, 3-... ORPHA:93403
Acropectoral Syndrome
Preaxial hand polydactyly, Finger syndactyly ORPHA:85203
Acrocephalopolysyndactyly Type Iv
Hand polydactyly, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Ulnar devi... OMIM:201020
Syndactyly, Type Iv
6 metacarpals, Polydactyly, 2-3 toe syndactyly, 1-5 finger syndactyly, Supernumerary metacarpal b... OMIM:186200
Polydactyly, Postaxial, Type A1
Postaxial hand polydactyly, Broad thumb, Preaxial polydactyly, Syndactyly, Triphalangeal thumb OMIM:174200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Abnormal hip bone morphology, Clin... ORPHA:1891
Syndactyly Type 5
Camptodactyly of finger, Metacarpal synostosis, 2-3 toe syndactyly, 3-4 finger syndactyly, Short ... ORPHA:93406
Symphalangism With Multiple Anomalies Of Hands And Feet
Small thenar eminence, Small hypothenar eminence, Reduced proximal interphalangeal joint space, T... OMIM:185750
Spinal Muscular Atrophy With Mental Retardation
Syndactyly OMIM:271109
Chromosome 2Q35 Duplication Syndrome
Cutaneous syndactyly, 2-3 toe syndactyly, 3-4 finger syndactyly, Distal symphalangism of hands OMIM:185900
Ectrodactyly-Polydactyly Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Finger syndactyly, Symphalangism affecting t... ORPHA:1892
Liebenberg Syndrome
2-3 finger syndactyly, Joint contracture of the 5th finger, Abnormality of the carpal bones, Meta... OMIM:186550
Wahab Syndrome
Camptodactyly, Short foot, Clinodactyly, Syndactyly, Short thumb, Short metacarpal, Adducted thum... OMIM:615170
Camptosynpolydactyly, Complex
Polydactyly, Camptodactyly, Syndactyly, Cutaneous syndactyly OMIM:607539
Brachydactyly-Syndactyly Syndrome
Oligodactyly, Short phalanx of finger, Finger syndactyly, Camptodactyly, Syndactyly, Short digit,... OMIM:610713
Split-Hand/Foot Malformation 6
Toe syndactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot, Hand oligodactyly OMIM:225300
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Short finger, Syndactyly, Split foot, Hypoplasia of the ulna OMIM:314360
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Hip dysplasia, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:71289
Banki Syndrome
Clinodactyly, Radial deviation of finger OMIM:109300
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Small hypothenar eminence, Small thenar eminence... ORPHA:3246
Split-Hand/Foot Malformation 4
Split hand, Aplasia/Hypoplasia involving the metacarpal bones, Aplasia/Hypoplasia of the phalange... OMIM:605289
Chromosome 2Q31.1 Duplication Syndrome
Cutaneous syndactyly, Talipes equinovarus OMIM:613681
Polydactyly, Preaxial Iv
Preaxial polydactyly, 3-4 finger syndactyly, Dysplastic distal thumb phalanges with a central hol... OMIM:174700
Split-Hand/Foot Malformation 2
Short phalanx of finger, Finger syndactyly, Split hand, Split foot, Short metacarpal OMIM:313350
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Brachydactyly, Type A2
Medially deviated second toe, Triangular shaped middle phalanx of the 5th finger, Short hallux, T... OMIM:112600
Triphalangeal Thumb, Nonopposable
Polydactyly, Triphalangeal thumb OMIM:190600
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Syndactyly, Type V
3-4 toe syndactyly, 4-5 toe syndactyly, Camptodactyly of finger, Fused fourth and fifth metacarpa... OMIM:186300
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Aplasia/Hypoplasia of the h... ORPHA:157801
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the hallux, Symphalangism affecting the phalanges of the hallux, 3-4 finger... OMIM:609432
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Syndactyly, 2-4 toe syndactyly OMIM:241000
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Brachydactyly Type A7
Medially deviated second toe, Aplasia/Hypoplasia of the middle phalanges of the hand, Short hallu... ORPHA:93397
Heart-Hand Syndrome, Slovenian Type
Clinodactyly, Syndactyly, Brachydactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Congenital Radioulnar Synostosis
Dislocated radial head, Abnormal morphology of the radius, Radioulnar synostosis, Congenital hip ... ORPHA:3269
Glycoprotein Storage Disease
Gout OMIM:232900
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short middle phalanx of the 2nd finger, Short 5th metacar... ORPHA:93409
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Broad toe, Preaxial foot polydactyly, 1-2... OMIM:186350
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Brachydactyly Type B2
Short toe, Finger syndactyly, Synostosis of carpal bones, Short distal phalanx of toe, Symphalang... ORPHA:140908
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Sugarman Brachydactyly
Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ... OMIM:272150
Brachydactyly Type B
Synostosis of carpal bones, 2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad ha... ORPHA:93383
Split-Hand/Foot Malformation 1
Triphalangeal thumb, Split hand, Foot oligodactyly, Clinodactyly, Syndactyly, Hand oligodactyly, ... OMIM:183600
Santos Syndrome
Oligodactyly, Genu valgum, Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Metatarsus a... OMIM:613005
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Cutaneous finger syndactyly, Syndactyly, Aplasia/Hypoplasia of toe, Duplication of metatarsal bones OMIM:600384
Crossed Polysyndactyly
Postaxial hand polydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:2935
Femur-Fibula-Ulna Complex
Humeroradial synostosis, Finger syndactyly, Split hand, Abnormality of the elbow, Short humerus, ... ORPHA:2019
Summitt Syndrome
Syndactyly OMIM:272350
Multiple Synostoses Syndrome 3
Cubitus valgus, Humeroradial synostosis, Cutaneous syndactyly of toes, Broad thumb, Hallux varus,... OMIM:612961
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Foot oligodactyly, Tibial bowing, Syndactyly, Hand oligodactyly, Short tibia, Fibular aplasia, Ab... OMIM:246570
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of carpal bones, Capitate-hamate fusio... OMIM:102510
Synpolydactyly 2
Toe syndactyly, Tarsal synostosis, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... OMIM:608180
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Enlarged joints, Synovitis ORPHA:50809
Fatco Syndrome
Absent hand, Abnormality of tibia morphology, Tarsal synostosis, Finger syndactyly, Split hand, A... ORPHA:2492
Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly
2-3 toe syndactyly, 2-4 finger syndactyly OMIM:227210
Bardet-Biedl Syndrome 5
Polydactyly, Syndactyly, Brachydactyly OMIM:615983
Camptobrachydactyly
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Ulna... ORPHA:1319
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Jawad Syndrome
4-5 toe syndactyly, Short middle phalanx of the 5th finger, Single interphalangeal crease of fift... OMIM:251255
Mental Retardation, Autosomal Dominant 4
Syndactyly, Short toe OMIM:612581
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Proximal Symphalangism
Camptodactyly of finger, Tarsal synostosis, Finger syndactyly, Synostosis of carpal bones, Elbow ... ORPHA:3250
Postaxial Tetramelic Oligodactyly
Oligodactyly, Abnormality of the metacarpal bones, Ectrodactyly, Abnormality of finger ORPHA:2730
Brachydactyly, Type B2
Aplasia/Hypoplasia of the middle phalanges of the hand, Cutaneous syndactyly of toes, Tarsal syno... OMIM:611377
Aphalangy-Syndactyly-Microcephaly Syndrome
Camptodactyly of finger, Toe syndactyly, Symphalangism affecting the phalanges of the hand, Short... ORPHA:1113
Bardet-Biedl Syndrome 6
Polydactyly, Syndactyly OMIM:605231
Split-Foot Deformity With Mandibulofacial Dysostosis
Split hand, Split foot, Toe syndactyly OMIM:183700
Triphalangeal Thumbs With Brachyectrodactyly
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Brachydactyly, Short 2nd finger OMIM:190680
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Congenital Absence Of Upper Arm And Forearm With Hand Present
Polydactyly, Syndactyly, Abnormal hip bone morphology, Upper limb phocomelia ORPHA:294975
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Hyperextensib... OMIM:105835
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Clubbing of fingers, Cutaneous finger syndactyly, Clubbing of toes, Swan neck-like deformities of... ORPHA:329252
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cutaneous finger syndactyly, Split foot DECIPHER:46
Camptobrachydactyly
Hand polydactyly, Congenital finger flexion contractures, Syndactyly, Short toe, Brachydactyly OMIM:114150
Laurin-Sandrow Syndrome
Absent tibia, Hand polydactyly, Fibular duplication, Short foot, Absent radius, Syndactyly, Patel... OMIM:135750
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Clinodactyly of the 5th finger, Radioulnar synostosis, Finger syndactyly ORPHA:3268
Kienbock Disease
Limitation of joint mobility, Osteochondritis Dissecans, Osteoarthritis, Abnormality of the wrist ORPHA:97332
Feingold Syndrome 2
3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Short thumb, Shor... OMIM:614326
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of the 5th finger, Congenital hip dislocation, Femoral bowing, Aplasia/Hypopla... OMIM:228930
Banki Syndrome
Abnormality of the metacarpal bones, Clinodactyly of the 5th finger, Brachydactyly, Synostosis of... ORPHA:1228
Ectrodactyly-Polydactyly
Split hand, Postaxial hand polydactyly, Split foot OMIM:225290
Polydactyly, Postaxial, Type A7
Postaxial polydactyly OMIM:617642
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Upper limb asymmetry, Aplasia/Hypoplasia of the radius, Aplasia/Hypoplasia of ... ORPHA:2141
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Split hand, Camptodactyly, Syndactyly, Joint contracture of the hand OMIM:225280
Acropectorovertebral Dysplasia
Camptodactyly of finger, Tarsal synostosis, Broad thumb, Finger syndactyly, Synostosis of carpal ... ORPHA:957
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydacty... ORPHA:3332
Tetramelic Monodactyly
Split hand, Hand monodactyly, Foot monodactyly, Split foot OMIM:187510
Feingold Syndrome Type 2
Short middle phalanx of finger, Brachydactyly, Toe syndactyly, Short thumb ORPHA:391646
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Oligodactyly, Split hand, Talipes equinovarus, Brachydactyly, Ectrodactyly OMIM:612576
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Gordon Syndrome
Camptodactyly of finger, Clinodactyly of the 5th finger, Finger syndactyly ORPHA:376
Jackson-Weiss Syndrome
Short metatarsal, Hallux varus, Broad metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, B... OMIM:123150
Sclerosteosis
Curved distal phalanges of the hand, 2-3 finger syndactyly, Diaphyseal thickening, Finger syndactyly ORPHA:3152
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Mesomelic Dysplasia, Nievergelt Type
Genu valgum, Camptodactyly of finger, Abnormality of tibia morphology, Tarsal synostosis, Radioul... ORPHA:2633
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Clinodactyly, Syndactyly, Brachydactyly OMIM:610023
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Toe syndactyly, Postaxial hand polydactyly, Broad thumb, Finger syndac... ORPHA:380
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Constrictive pericarditis, Congenital finger flexion contractures, Wrist flexion contracture, Gen... OMIM:208250
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short 3rd metacarpal, Short toe, Broad thumb, Short 5th metacarpal, 3-4 finger cutaneous syndacty... ORPHA:370010
Chromosome Xp11.23-P11.22 Duplication Syndrome
Syndactyly OMIM:300801
Brachydactyly, Type B1
Broad thumb, Short middle phalanx of finger, Aplasia/Hypoplasia of the distal phalanges of the ha... OMIM:113000
Adams-Oliver Syndrome 3
Absent toe, 2-3 toe syndactyly, Short metatarsal, Short distal phalanx of finger OMIM:614814
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Bardet-Biedl Syndrome 4
Polydactyly, Syndactyly, Brachydactyly OMIM:615982
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the radius, Syndactyly, Hypoplasia of the ulna OMIM:212780
Charlie M Syndrome
Finger syndactyly, Split hand, Abnormality of the metacarpal bones, Triphalangeal thumb, Brachyda... ORPHA:1406
Boomerang Dysplasia
Abnormality of tibia morphology, Abnormality of femur morphology, Finger syndactyly, Abnormality ... ORPHA:1263
Carpenter Syndrome
Genu valgum, Postaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Polydact... ORPHA:65759
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Joint dislocation, Osteoarthritis, Limitation of joint mobilit... ORPHA:1416
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Keratoconjunctivitis sicca, Tubulointerstitial nephritis OMIM:270150
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly ORPHA:1114
Terminal Osseous Dysplasia
Mesomelic arm shortening, Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly... OMIM:300244
Limb-Mammary Syndrome
Split hand, Camptodactyly, Syndactyly, Split foot, Joint contracture of the hand, Hallux valgus OMIM:603543
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Camptodactyly of finger, Palmoplantar keratoderma, Finger syndactyly, Short thumb, Triphalangeal ... ORPHA:2251
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity OMIM:178610
Summitt Syndrome
Genu valgum, Short 4th metacarpal, Camptodactyly of finger, Finger syndactyly, Clinodactyly of th... ORPHA:3210
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Isolated Cloverleaf Skull Syndrome
Finger syndactyly ORPHA:2343
Holt-Oram Syndrome
Small thenar eminence, Limited elbow extension, Hypoplasia of the radius, Finger clinodactyly, Ap... OMIM:142900
Grange Syndrome
Syndactyly, Short palm ORPHA:79094
Joubert Syndrome 17
Polydactyly, Syndactyly OMIM:614615
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Short metacarpal, C... OMIM:605282
Joubert Syndrome 20
Syndactyly, Postaxial polydactyly OMIM:614970
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Hypoplastic ischia, Syndactyly, Brachydactyly, Micro... OMIM:617866
Laurin-Sandrow Syndrome
Preaxial hand polydactyly, Tarsal synostosis, Absent tibia, Limb duplication, Toe syndactyly, Fin... ORPHA:2378
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Radial bowing, Ulnar bowing, Syndactyly, Proximal radio-ulnar synostosis, Hip dislocation, Clinod... OMIM:605432
Poland Syndrome
Unilateral oligodactyly, Syndactyly, Hypoplasia of deltoid muscle, Unilateral brachydactyly OMIM:173800
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Postaxial oligodactyly, Carpal synostosis OMIM:609428
Epidermolysis Bullosa, Lethal Acantholytic
Mitten deformity, Widely spaced toes, Sandal gap, Syndactyly, Tapered distal phalanges of finger,... OMIM:609638
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Finger syndactyly, Genu valgum, Clinodactyly, Abnormality of epiphysis morphology ORPHA:166024
Multiple Synostoses Syndrome 1
Fusion of midphalangeal joints, Tarsal synostosis, Lower limb undergrowth, Short lower limbs, Abs... OMIM:186500
Cleft Palate, Cardiac Defects, And Mental Retardation
Broad thumb, 2-3 toe syndactyly, Sandal gap, Cutaneous syndactyly, Broad hallux, Short 5th finger... OMIM:600987
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly OMIM:601163
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Hypomelanosis Of Ito
Clinodactyly, Syndactyly, Hand polydactyly, Radial deviation of finger OMIM:300337
Interstitial Granulomatous Dermatitis With Arthritis
Rheumatoid arthritis, Rheumatoid factor positive, Inflammatory abnormality of the skin ORPHA:79099
Pfeiffer Syndrome Type 1
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hallux phalanx,... ORPHA:93258
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Palmoplantar keratoderma OMIM:613576
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly OMIM:300484
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Proximal placement of thumb, Abnormal thumb morphology, Abnormality of the wrist, Finger syndactyly ORPHA:1825
Schizophrenia 1
Syndactyly, Short proximal phalanx of the 4th toe OMIM:181510
Bardet-Biedl Syndrome 9
Postaxial hand polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polyda... OMIM:615986
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus, Limitation of joint mobility ORPHA:399180
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Syndactyly, Hypoplasia of the ulna OMIM:228940
Silver-Russell Syndrome 3
Syndactyly, Finger clinodactyly OMIM:616489
Aminopterin Syndrome Sine Aminopterin
Rudimentary postaxial polydactyly of hands, Clinodactyly, Syndactyly, Joint contracture of the ha... OMIM:600325
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad thumb, Broad hallux OMIM:613684
Monosomy 5P
Small hand, Finger syndactyly ORPHA:281
Congenital Heart Defects And Ectodermal Dysplasia
Syndactyly, Broad thumb OMIM:617364
Greig Cephalopolysyndactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Broad thumb, 1-3 toe syndactyly, Camptodac... OMIM:175700
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Split hand, Cutaneous finger syndactyly, Split foot OMIM:183802
Filippi Syndrome
Cutaneous syndactyly, Single transverse palmar crease, 2-4 toe syndactyly, Finger clinodactyly OMIM:272440
Nevus Comedonicus Syndrome
Preaxial polydactyly, Toe syndactyly, Finger syndactyly ORPHA:64754
Klippel-Trenaunay-Weber Syndrome
Hand oligodactyly, Macrodactyly, Hand polydactyly, Syndactyly OMIM:149000
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Tibial Hemimelia
Radial club hand, Tarsal synostosis, Polydactyly, Split hand, Metatarsus adductus, Absent radius,... ORPHA:93322
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
2-3 finger syndactyly, Postaxial hand polydactyly, Broad hallux OMIM:217085
Fibular Hemimelia
Hip subluxation, Bowing of the legs, Abnormality of fibula morphology, Arthralgia of the hip, Ect... ORPHA:93323
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Verloove Vanhorick-Brubakk Syndrome
Tarsal synostosis, Finger syndactyly, Limb undergrowth, Abnormality of the metacarpal bones, Abno... ORPHA:3429
Oligoarticular Juvenile Idiopathic Arthritis
Joint hypermobility, Autoimmunity, Rheumatoid arthritis, Uveitis, Knee osteoarthritis, Oligoarthr... ORPHA:85410
Cranio-Osteoarthropathy
Abnormality of the knee, Joint swelling, Joint stiffness, Eczema, Osteoarthritis, Arthritis ORPHA:1525
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Pericarditis, Lupus nephritis, Malar rash, Antiphospholi... OMIM:152700
Curry-Jones Syndrome
Cutaneous syndactyly of toes, Preaxial hand polydactyly, Broad thumb, Cutaneous finger syndactyly... OMIM:601707
Eem Syndrome
Ectrodactyly, Finger syndactyly ORPHA:1897
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Pericarditis, Malar rash, Antinuclear antibody positivity, Arthritis OMIM:609939
Craniosynostosis And Dental Anomalies
Short phalanx of finger, 2-3 toe syndactyly, Clinodactyly, Syndactyly, Hallux valgus OMIM:614188
Ritscher-Schinzel Syndrome 2
Overlapping toe, Camptodactyly, Short distal phalanx of finger, Clinodactyly, Syndactyly, Broad h... OMIM:300963
Diverticulosis, Small-Intestinal
Thyroiditis, Rheumatoid arthritis, Ulcerative colitis OMIM:223320
Temtamy Preaxial Brachydactyly Syndrome
Short hallux, Tarsal synostosis, Complete duplication of proximal phalanx of the thumb, Partial d... ORPHA:363417
Moebius Syndrome
Short phalanx of finger, Split hand, Camptodactyly, Aplasia/Hypoplasia involving the metacarpal b... OMIM:157900
Weaver Syndrome
Camptodactyly of finger, Broad thumb, Finger syndactyly, Large hands, Sandal gap, Abnormality of ... ORPHA:3447
Cranioectodermal Dysplasia
Finger syndactyly, Rhizomelia, Short distal phalanx of finger, Abnormal diaphysis morphology, Abn... ORPHA:1515
Holt-Oram Syndrome
Broad thumb, Radioulnar synostosis, Finger syndactyly, Split hand, Down-sloping shoulders, Aplasi... ORPHA:392
Chromosome 8Q21.11 Deletion Syndrome
Camptodactyly, Syndactyly OMIM:614230
Vertical Talus, Congenital
Arthritis OMIM:192950
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Broad thumb, Finger syndactyly, Adducted thumb, Aplasia/Hypoplasia of the patell... ORPHA:3320
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Camptodactyly of finger, Finger syndactyly, Short distal phalanx of finger, Triphalangeal thumb, ... ORPHA:2994
Laurence-Moon Syndrome
Hand polydactyly, Brachydactyly, Bilateral single transverse palmar creases, Finger syndactyly ORPHA:2377
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Preaxial hand polydactyly, Syndactyly OMIM:263630
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Single transverse palmar crease, Sandal gap, Syndactyly, Brachydactyly, Micromelia OMIM:614800
Pfeiffer Syndrome
Hip dysplasia, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Symphalangism affectin... ORPHA:710
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Lower limb undergrowth, Syndactyly, Broad hallux OMIM:101120
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Aplasia of the proximal phalanges of the hand, Finger syndactyly, Hypoplasia of the ulna, Short l... ORPHA:2256
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Syndactyly, Congenital bilateral hip dislocation ORPHA:404451
6P22 Microdeletion Syndrome
Clinodactyly, Finger syndactyly ORPHA:251046
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Syndactyly OMIM:616589
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Brachydactyly, Cutaneous syndactyly, Talipes equinovarus, Clinodactyly of the... OMIM:236500
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly ORPHA:1338
Acrofacial Dysostosis, Rodríguez Type
Radioulnar synostosis, Finger syndactyly, Aplasia/Hypoplasia of the radius, Fibular hypoplasia, H... ORPHA:1788
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Clinodactyly, Syndactyly, Arachnodactyly OMIM:619092
Curry-Jones Syndrome
Preaxial hand polydactyly, Broad thumb, Toe syndactyly, Finger syndactyly, Foot polydactyly, Abno... ORPHA:1553
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Syndactyly, Brachydactyly OMIM:614701
Rheumatoid Arthritis
Joint swelling, Rheumatoid arthritis, Anti-citrullinated protein antibody positivity, Rheumatoid ... OMIM:180300
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly ORPHA:261272
Ring Chromosome 21 Syndrome
Clinodactyly, Syndactyly, Narrow palm, Small hand ORPHA:1445
Craniofrontonasal Dysplasia
Camptodactyly of finger, Hand polydactyly, Finger syndactyly, Broad hallux phalanx, Down-sloping ... ORPHA:1520
Mohr Syndrome
Partial duplication of the phalanges of the hallux, Preaxial hand polydactyly, Postaxial hand pol... OMIM:252100
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Syndactyly OMIM:616006
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Macrodactyly
Macrodactyly OMIM:155500
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Split hand, Brachydactyly, Micromelia ORPHA:2145
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:48377
Pfeiffer Syndrome
Humeroradial synostosis, Broad thumb, Finger syndactyly, Elbow ankylosis, Syndactyly, Shortening ... OMIM:101600
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Iridocyclitis, Hip osteoarthritis, Flexion contrac... ORPHA:85408
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Toe syndactyly, Finger syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:1112
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Brachydactyly, Mic... OMIM:617895
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Postaxial polydactyly, Short long bone, Syndactyly, Acetabular spurs, Brach... OMIM:615503
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly OMIM:602501
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly ORPHA:1514
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Cenani-Lenz Syndrome
Oligodactyly, Hypoplasia of the radius, Toe syndactyly, Radioulnar synostosis, Elbow dislocation,... ORPHA:3258
Spondyloarthropathy, Susceptibility To, 1
Inflammation of the large intestine, Hip osteoarthritis, Enthesitis, Psoriasiform dermatitis, Ant... OMIM:106300
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly OMIM:119580
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Bowing of the long bones, Postaxial polydactyly, Mesomelia, Sh... OMIM:614091
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Joint swelling, Pericarditis, Autoimmunity, Juvenile rheumatoid arthritis, Anterior uv... ORPHA:85414
Acrofrontofacionasal Dysostosis 2
Hand polydactyly, Syndactyly, Broad thumb, Broad hallux OMIM:239710
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Pelvis-Shoulder Dysplasia
Dislocated radial head, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Absent pro... ORPHA:2839
Desbuquois Dysplasia 2
Metaphyseal widening, Broad thumb, Short phalanx of finger, Short metacarpal, Coxa valga, Short l... OMIM:615777
Acrootoocular Syndrome
Small thenar eminence, Small hypothenar eminence, Prominent calcaneus, Short toe, Short finger, A... ORPHA:2980
Acromelic Frontonasal Dysostosis
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly OMIM:603671
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Timothy Syndrome
Cutaneous syndactyly, Syndactyly OMIM:601005
Grange Syndrome
Syndactyly, Brachydactyly, Finger clinodactyly OMIM:602531
Aarskog-Scott Syndrome
Camptodactyly of finger, Broad palm, Finger syndactyly, Small hand, Short foot, Clinodactyly of t... ORPHA:915
Silver-Russell Syndrome Due To A Point Mutation
Polydactyly, Syndactyly, Clinodactyly of the 5th finger, Short 5th finger, Ectrodactyly ORPHA:397590
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Pfeiffer Syndrome Type 2
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hallux phalanx,... ORPHA:93259
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly OMIM:618087
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Short hallux, Toe syndactyly, Finger syndactyly, Abnormality of the metacarpal bones ORPHA:3224
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping fingers, Overlapping toe, Long toe, Cutaneous syndactyly, Long fingers OMIM:618316
Microphthalmia With Limb Anomalies
Broad thumb, Tarsal synostosis, Elbow dislocation, Bilateral single transverse palmar creases, Ab... ORPHA:1106
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Abnormal pelvis bone... ORPHA:1505
Crane-Heise Syndrome
Toe syndactyly, Finger syndactyly, Hypoplastic scapulae, Short distal phalanx of finger, Talipes ... ORPHA:1512
Postaxial Acrofacial Dysostosis
Camptodactyly of finger, Hypoplasia of the radius, Hypoplasia of the ulna, Finger syndactyly ORPHA:246
Kbg Syndrome
Clinodactyly, Syndactyly, Single transverse palmar crease, Radial deviation of finger OMIM:148050
20P13 Microdeletion Syndrome
Polydactyly, Clinodactyly, Brachydactyly, Finger syndactyly ORPHA:313781
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Hashimoto thyroiditis, Juvenile rheumatoid art... ORPHA:275
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Synostosis of carpal bones ORPHA:1323
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Arachnodactyly, Toe syndactyly, Short palm, Finger syndactyly ORPHA:73246
Czeizel-Losonci Syndrome
2-3 finger syndactyly, 1-2 finger syndactyly, 3-4 finger syndactyly, Radial deviation of the thum... ORPHA:2437
Larsen Syndrome
Broad distal phalanx of finger, Broad thumb, Accessory carpal bones, Abnormality of epiphysis mor... ORPHA:503
Short Stature With Microcephaly And Distinctive Facies
Short distal phalanx of finger, Syndactyly, Talipes equinovarus, Short digit, Brachydactyly, Prox... OMIM:615789
Silver-Russell Syndrome 1
Short distal phalanx of the 5th finger, Clinodactyly of the 5th finger, Syndactyly, Short middle ... OMIM:180860
Bartsocas-Papas Syndrome
Absent thumb, Aplasia/Hypoplasia of the distal phalanges of the toes, Toe syndactyly, Finger synd... ORPHA:1234
Aarskog-Scott Syndrome
Short 5th finger, Broad palm, Radial deviation of finger, Clinodactyly, Syndactyly, Short foot, B... OMIM:305400
Endocrine-Cerebroosteodysplasia
Polydactyly, Preaxial polydactyly, Postaxial polydactyly, Sandal gap, Ulnar deviation of the hand... OMIM:612651
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Short phalanx of finger, Finger syndactyly, Short foot, Sandal gap, Short metacarpal OMIM:264475
Hamamy Syndrome
Hip dysplasia, Down-sloping shoulders, Clinodactyly, Syndactyly, Long toe, Tapered finger, Short ... OMIM:611174
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Abnormality of the... ORPHA:1005
Alkuraya-Kucinskas Syndrome
Overlapping fingers, Cutaneous syndactyly, Overlapping toe, Camptodactyly, Clinodactyly, Hand cle... OMIM:617822
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Camptodactyly, Tapered finger, Single transverse palmar crease, Finger syndactyly ORPHA:435938
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Toe syndactyly, Foot polydactyly, Hand polydactyly, Finger syndactyly ORPHA:60040
Acro-Renal-Ocular Syndrome
Short hallux, Radial club hand, Preaxial hand polydactyly, Abnormal thumb morphology, Toe syndact... ORPHA:959
Oliver Syndrome
Camptodactyly of finger, Postaxial hand polydactyly, Postaxial foot polydactyly, Clinodactyly of ... ORPHA:2920
Tarp Syndrome
Deep palmar crease, Hypoplasia of the radius, Short sternum, Postaxial polydactyly, Clinodactyly,... OMIM:311900
Fraser Syndrome 3
Cutaneous syndactyly, Short toe OMIM:617667
Duane-Radial Ray Syndrome
Small thenar eminence, Radial deviation of the hand, Hypoplasia of the radius, Preaxial polydacty... OMIM:607323
Filippi Syndrome
Finger syndactyly, Enlarged epiphyses, Bilateral single transverse palmar creases, Clinodactyly o... ORPHA:3255
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Adactyly, Upper limb phocomelia, Finger syndactyly, Split hand, Sh... ORPHA:989
Thrombocytopenia-Absent Radius Syndrome
Talipes equinovarus, Fibular aplasia, Broad thumb, Shoulder muscle hypoplasia, Short phalanx of f... OMIM:274000
Pfeiffer Syndrome Type 3
Short hallux, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Broad hallux phalanx,... ORPHA:93260
2Q37 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Short foot, Small ... ORPHA:1001
Kbg Syndrome
Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly ORPHA:2332
Acrocardiofacial Syndrome
Camptodactyly of finger, Toe syndactyly, Finger syndactyly, Split hand, Abnormality of the metaca... ORPHA:2008
Pyoderma Gangrenosum
Inflammation of the large intestine, Pustule, Rheumatoid arthritis, Myositis ORPHA:48104
Rubinstein-Taybi Syndrome
Hip dysplasia, Broad thumb, Finger syndactyly, Broad hallux phalanx, Clubbing of toes, Abnormal d... ORPHA:783
Lethal Acantholytic Erosive Disorder
2-3 finger syndactyly, 4-5 finger syndactyly, Camptodactyly of toe, 3-4 finger syndactyly, Clinod... ORPHA:158687
Pili Torti-Onychodysplasia Syndrome
Cutaneous syndactyly, Palmoplantar keratoderma ORPHA:2890
Selective Igm Deficiency
Cutaneous abscess, Bronchiectasis, Chronic sinusitis, Recurrent vulvovaginal candidiasis, Otitis ... ORPHA:331235
Moebius Syndrome
Absent hand, Finger syndactyly, Aplasia of the pectoralis major muscle, Aplasia/Hypoplasia involv... ORPHA:570
Roberts Syndrome
Mesomelic arm shortening, Hypoplasia of the radius, Radioulnar synostosis, Synostosis of carpal b... ORPHA:3103
Acrofacial Dysostosis, Catania Type
Finger syndactyly, Bilateral single transverse palmar creases, Small hand, Clinodactyly of the 5t... ORPHA:1786
Bohring-Opitz Syndrome
Dislocated radial head, Deep palmar crease, Overlapping toe, Broad palm, Mesomelic/rhizomelic lim... OMIM:605039
Gamma-Heavy Chain Disease
Skin rash, Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rh... ORPHA:100026
19Q13.11 Microdeletion Syndrome
Toe syndactyly, Congenital hip dislocation, Finger syndactyly, Toe clinodactyly, Clinodactyly of ... ORPHA:217346
Ring Chromosome 12 Syndrome
Symphalangism of the thumb, Clinodactyly, Abnormal 5th finger morphology, Syndactyly ORPHA:1439
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Cri-Du-Chat Syndrome
Short metatarsal, Metatarsus adductus, Syndactyly, Short metacarpal, Single transverse palmar cre... OMIM:123450
Microphthalmia With Brain And Digit Anomalies
Finger syndactyly, Proximal placement of thumb, Postaxial foot polydactyly ORPHA:139471
Adams-Oliver Syndrome
Absent hand, Finger syndactyly, Split hand, Short distal phalanx of finger, Abnormality of the me... ORPHA:974
Myasthenia Gravis
Systemic lupus erythematosus, Muscle specific kinase antibody positivity, Rheumatoid arthritis, H... ORPHA:589
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Hypoplasia of the radius, Finger syndactyly, Split hand, Hypoplastic scapulae... ORPHA:958
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Small hand, Finger syndactyly ORPHA:1787
Rhombencephalosynapsis
Polydactyly, Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly ORPHA:59315
X Small Rings
Upper limb undergrowth, Toe syndactyly, 2-3 toe syndactyly, Lower limb undergrowth, Cutaneous syn... ORPHA:96201
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Clinodactyly, Camptodactyly, Syndactyly, Abnormality of the hand ORPHA:369891
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly ORPHA:66629
Ritscher-Schinzel Syndrome 1
Syndactyly OMIM:220210
Oculocerebrocutaneous Syndrome
Hand polydactyly, Congenital hip dislocation, Finger syndactyly, Short distal phalanx of finger, ... ORPHA:1647
Postaxial Acrofacial Dysostosis
Hypoplasia of the radius, Congenital hip dislocation, Radioulnar synostosis, Hypoplasia of the ul... OMIM:263750
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Clinodactyly, Syndactyly, Proximal placement of thumb, Brachydactyly, Short palm OMIM:217980
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Abnormality of tibia morphology, Toe syndactyly, Abnormality of the ulna... ORPHA:251014
Bardet-Biedl Syndrome 1
Postaxial hand polydactyly, Radial deviation of finger, Syndactyly, Foot polydactyly, Short foot,... OMIM:209900
Fraser Syndrome 2
Cutaneous syndactyly OMIM:617666
8Q22.1 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Sandal gap ORPHA:178303
Multiple Pterygium-Malignant Hyperthermia Syndrome
Camptodactyly of finger, Finger syndactyly, Hemiatrophy, Long palm, Metatarsus adductus, Ulnar de... ORPHA:2215
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
19P13.12 Microdeletion Syndrome
Deep palmar crease, Finger syndactyly, Sandal gap, Toe clinodactyly, Clinodactyly of the 5th fing... ORPHA:254346
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Overlapping toe, Camptodactyly, Distally placed thumb, Single transverse p... OMIM:619148
Acrocallosal Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Duplica... OMIM:200990
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Finger syndactyly, Broad hallux phalanx, Short distal phalanx of finger, Abnormalit... ORPHA:1517
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Mesomelia, Micromelia ORPHA:1908
Autoimmune Polyendocrinopathy Type 4
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Rheumatoid arthritis, Chronic atrophic ... ORPHA:227990
Orofaciodigital Syndrome Type 6
Hand polydactyly, Central Y-shaped metacarpal, Mesoaxial polydactyly, Finger clinodactyly, Preaxi... ORPHA:2754
Adams-Oliver Syndrome 5
Syndactyly, Brachydactyly OMIM:616028
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5... ORPHA:794
Pallister-Hall Syndrome
Oligodactyly, Short 4th metacarpal, Postaxial hand polydactyly, Y-shaped metacarpals, Toe syndact... OMIM:146510
Oculodentodigital Dysplasia
Short hallux, Aplasia/Hypoplasia of the middle phalanges of the hand, Camptodactyly of finger, Pr... ORPHA:2710
Methylcobalamin Deficiency Type Cble
Clinodactyly, Syndactyly ORPHA:2169
Autoimmune Polyendocrinopathy Type 3
Iridocyclitis, Autoimmune thrombocytopenia, Autoimmunity, Rheumatoid arthritis, Hashimoto thyroid... ORPHA:227982
Cohen Syndrome
Genu valgum, Cubitus valgus, Finger syndactyly, Narrow palm, Sandal gap, Slender toe, Abnormal hi... ORPHA:193
Cranioectodermal Dysplasia 3
Syndactyly, Brachydactyly, Postaxial polydactyly, Sandal gap OMIM:614099
Opitz-Kaveggia Syndrome
Broad thumb, Split hand, Camptodactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Joi... OMIM:305450
Constricting Bands, Congenital
Talipes equinovarus, Syndactyly, Hand polydactyly OMIM:217100
Bloom Syndrome
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly OMIM:210900
Basel-Vanagaite-Smirin-Yosef Syndrome
Overlapping fingers, Overlapping toe, Finger syndactyly, 2-3 toe syndactyly, Deviation of the 2nd... ORPHA:464738
Teebi-Shaltout Syndrome
Rocker bottom foot, Camptodactyly, Ulnar deviation of the hand, Metatarsus adductus, Syndactyly, ... OMIM:272950
Orofaciodigital Syndrome Type 2
Postaxial hand polydactyly, Y-shaped metacarpals, Adactyly, Complete duplication of hallux phalan... ORPHA:2751
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly OMIM:614520
Hidrotic Ectodermal Dysplasia
Hand polydactyly, Clubbing of toes, Palmoplantar keratoderma, Finger syndactyly ORPHA:189
Multiple Pterygium Syndrome, Escobar Variant
Rocker bottom foot, Dislocated radial head, Camptodactyly of toe, Bilateral camptodactyly, Syndac... OMIM:265000
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Cubitus valgus, Syndactyly, Congenital hip dislocation OMIM:104350
Prader-Willi Syndrome
Hip dysplasia, Genu valgum, Acromicria, Narrow palm, Radial deviation of finger, Clinodactyly, Sy... OMIM:176270
Lenz-Majewski Hyperostotic Dwarfism
Aplasia/Hypoplasia of the middle phalanges of the hand, Humeroradial synostosis, Proximal symphal... OMIM:151050
Mckusick-Kaufman Syndrome
Postaxial hand polydactyly, Tarsal synostosis, Finger syndactyly, Abnormality of the metacarpal b... ORPHA:2473
Autosomal Dominant Popliteal Pterygium Syndrome
Split hand, Toe syndactyly, Finger syndactyly ORPHA:1300
Spondyloenchondrodysplasia With Immune Dysregulation
Systemic lupus erythematosus, Joint swelling, Autoimmune thrombocytopenia, Autoimmunity, Recurren... OMIM:607944
Bardet-Biedl Syndrome
Postaxial hand polydactyly, Finger syndactyly ORPHA:110
3C Syndrome
Hand polydactyly, Brachydactyly, Abnormal hip bone morphology, Finger syndactyly ORPHA:7
Poland Syndrome
Absent hand, Hand polydactyly, Finger syndactyly, Split hand, Aplasia of the pectoralis major mus... ORPHA:2911
Adult Syndrome
Toe syndactyly, Split foot, Finger syndactyly ORPHA:978
Sweeney-Cox Syndrome
Cutaneous syndactyly, Short clavicles, Long fingers OMIM:617746
Faciodigitogenital Syndrome, Autosomal Recessive
Broad palm, Camptodactyly, Down-sloping shoulders, Metatarsus adductus, Syndactyly, Short foot, C... OMIM:227330
14Q22Q23 Microdeletion Syndrome
Short 4th metacarpal, Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single t... ORPHA:264200
Focal Dermal Hypoplasia
Abnormal palmar dermatoglyphics, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, Hypop... ORPHA:2092
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Short phalanx of finger, Camptodactyly, Mesomelia, Clinodactyly, Syndactyly, Brachyd... OMIM:616894
Trigeminal Neuralgia
Allodynia ORPHA:221091
Orofaciodigital Syndrome I
Polydactyly, Radial deviation of finger, Clinodactyly, Syndactyly, Brachydactyly, Abnormality of toe OMIM:311200
Hereditary Xanthinuria
Gout, Rheumatoid arthritis, Arthropathy ORPHA:3467
Mckusick-Kaufman Syndrome
Syndactyly, Postaxial hand polydactyly, Mesoaxial hand polydactyly, Congenital hip dislocation OMIM:236700
Igg4-Related Retroperitoneal Fibrosis
Anti-thyroid peroxidase antibody positivity, Systemic lupus erythematosus, Antineutrophil antibod... ORPHA:49041
Cerebrofacioarticular Syndrome
Talipes equinovarus, Camptodactyly, Syndactyly, Caudal appendage ORPHA:314679
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Finger syndactyly, Toe syndactyly, Bilateral single transverse palmar creases, Palmoplantar hyper... ORPHA:3253
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Trichorhinophalangeal Syndrome, Type Ii
Cone-shaped epiphyses of the phalanges of the hand, Syndactyly, Avascular necrosis of the capital... OMIM:150230
Apert Syndrome
Toe syndactyly, Broad thumb, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Micromelia ORPHA:87
Fg Syndrome Type 1
Abnormal thumb morphology, Broad toe, Finger syndactyly, Limited elbow extension and supination, ... ORPHA:93932
Yunis-Varon Syndrome
Rocker bottom foot, Aplasia of the 1st metacarpal, Aplasia of the distal phalanges of the hand, S... ORPHA:3472
Bartsocas-Papas Syndrome 1
Oligodactyly, Talipes equinovarus, Short phalanx of finger, Hypoplastic scapulae, Hypoplastic ili... OMIM:263650
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 2nd finger, Toe syndactyly, Radioulnar synostosi... OMIM:101400
8Q21.11 Microdeletion Syndrome
Finger syndactyly, Camptodactyly of finger, Absent palmar crease, Abnormality of the metacarpal b... ORPHA:284160
Townes-Brocks Syndrome 1
3-4 toe syndactyly, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Pseudoepiphyses of ... OMIM:107480
Tarp Syndrome
Rocker bottom foot, Hand polydactyly, Finger syndactyly, Short sternum, Postaxial polydactyly, Cl... ORPHA:2886
Trisomy 20P
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Abnormal hip bone morpholo... ORPHA:261318
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Narrow joint spaces of the elbow, Clinodactyly, Syndactyly, Clinodactyly of the 5th finger, Brach... ORPHA:96182
Triploidy
Finger syndactyly ORPHA:3376
Limb-Mammary Syndrome
Oligodactyly, Toe syndactyly, 3-4 finger cutaneous syndactyly, Syndactyly, Clinodactyly of the 5t... ORPHA:69085
Mosaic Trisomy 16
Short forearm, Clinodactyly, Syndactyly, Short thumb, Short femoral neck, Single transverse palma... ORPHA:1708
Orofaciodigital Syndrome Type 1
Preaxial hand polydactyly, Postaxial hand polydactyly, Tarsal synostosis, Hand polydactyly, Finge... ORPHA:2750
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Syndactyly, Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly ORPHA:1521
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Broad thumb, Toe syndactyly, Elbow dislocation, Synostosis of carpal bon... ORPHA:1507
Rapp-Hodgkin Syndrome
Syndactyly OMIM:129400
Eec Syndrome
Toe syndactyly, Finger syndactyly, Split hand, Aplasia/Hypoplasia of the thumb, Split foot, Proxi... ORPHA:1896
Vacterl/Vater Association
Preaxial hand polydactyly, Aplasia/Hypoplasia of the radius, Finger syndactyly ORPHA:887
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad hallux phalanx, Preaxial hand polydactyly, Broad thumb, Finger syndactyly ORPHA:2211
Autosomal Recessive Spondylocostal Dysostosis
Camptodactyly of finger, Finger syndactyly ORPHA:2311
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Short foot, Clinodactyly of the 5th finger, Brachydactyly ORPHA:1974
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Genu varum, Finger syndactyly ORPHA:1969
Lenz-Majewski Hyperostotic Dwarfism
Abnormality of finger, Finger syndactyly, Elbow ankylosis, Symphalangism affecting the phalanges ... ORPHA:2658
Microphthalmia, Lenz Type
Camptodactyly of finger, Finger syndactyly, Abnormal shoulder morphology, Complete duplication of... ORPHA:568
Monosomy 13Q14
Clinodactyly of the 5th finger, Brachydactyly, Aplasia/Hypoplasia of the thumb, Finger syndactyly ORPHA:1587
Lacrimoauriculodentodigital Syndrome
Hypoplasia of the radius, Abnormal thumb morphology, Toe syndactyly, Finger syndactyly, Clinodact... ORPHA:2363
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Rheumatoid arthritis, Granulomatous coronary arteritis, Iritis OMIM:108050
Monosomy 22
Clubbing, Clinodactyly of the 5th finger, Single transverse palmar crease, Finger syndactyly ORPHA:96123
Neu-Laxova Syndrome 1
Rocker bottom foot, Toe syndactyly, Finger syndactyly, Camptodactyly, Limb undergrowth, Radial de... OMIM:256520
Benign Schwannoma
Allodynia ORPHA:252164
Autosomal Dominant Robinow Syndrome
Hip dysplasia, Camptodactyly of finger, Elbow dislocation, Finger syndactyly, Avascular necrosis ... ORPHA:3107
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Abnormality of the upper limb, Finger syndactyly, Short lower limbs ORPHA:1556
Angioosteohypertrophic Syndrome
Hand polydactyly, Finger syndactyly, Macrodactyly, Hemihypertrophy of upper limb, Hand oligodactyly ORPHA:2346
Autosomal Recessive Multiple Pterygium Syndrome
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Finger syndactyly ORPHA:2990
Cranioectodermal Dysplasia 2
Postaxial hand polydactyly, Polydactyly, Rhizomelia, Mesomelia, Clinodactyly, Syndactyly, Brachyd... OMIM:613610
Jacobsen Syndrome
Hand polydactyly, Toe syndactyly, Finger syndactyly, Broad hallux phalanx, Toe clinodactyly, Shor... ORPHA:2308
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Abnormality of femur morphology, Toe syndactyly, Abnormal thumb mo... ORPHA:84
Meckel Syndrome, Type 1
Postaxial hand polydactyly, Bowing of the long bones, Radial deviation of finger, Clinodactyly, S... OMIM:249000
Hartsfield Syndrome
Syndactyly, Ectrodactyly OMIM:615465
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Broad thumb, Congenital hip dislo... ORPHA:373
Robinow Syndrome
Mesomelic arm shortening, Radioulnar dislocation, Mesomelia, Short distal phalanx of finger, Synd... ORPHA:97360
Smith-Lemli-Opitz Syndrome
Postaxial hand polydactyly, Finger syndactyly, Split hand, Rhizomelia, 2-3 toe syndactyly, Mesome... ORPHA:818
Aarskog Syndrome, Autosomal Dominant
Radial deviation of finger, Clinodactyly, Syndactyly, Brachydactyly, Single transverse palmar cre... OMIM:100050
Dubowitz Syndrome
Clinodactyly of the 5th finger, Syndactyly OMIM:223370
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Finger syndactyly, Abnormality of the metacarpal bones, Abnormal hip bon... ORPHA:2907
Incontinentia Pigmenti
Absent hand, Camptodactyly of finger, Finger syndactyly, Abnormal hand morphology, Deviation of f... ORPHA:464
Loeys-Dietz Syndrome 2
Protrusio acetabuli, Camptodactyly, Postaxial polydactyly, Syndactyly, Joint contracture of the h... OMIM:610168
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hip dysplasia, Clinodactyly of the 5th finger, Syndactyly OMIM:616975
Vater/Vacterl Association
Hypoplasia of the radius, Radioulnar synostosis, Preaxial polydactyly, Absent radius, Syndactyly,... OMIM:192350
Lacrimoauriculodentodigital Syndrome
Small thenar eminence, 2-3 finger syndactyly, Hypoplasia of the radius, Absent proximal phalanx o... OMIM:149730
Rubinstein-Taybi Syndrome 1
Dislocated radial head, Broad thumb, Flared iliac wing, Polydactyly, Duplication of phalanx of ha... OMIM:180849
Peters-Plus Syndrome
Short toe, Short metatarsal, Broad palm, Square pelvis bone, Rhizomelia, Short foot, Short metaca... OMIM:261540
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly ORPHA:1071
Orofaciodigital Syndrome Type 4
Camptodactyly of finger, Postaxial hand polydactyly, Preaxial hand polydactyly, Finger syndactyly... ORPHA:2753
Kindler Epidermolysis Bullosa
Short 4th metacarpal, Camptodactyly of finger, Palmoplantar keratoderma, Finger syndactyly, Short... ORPHA:2908
Specc1L-Related Hypertelorism Syndrome
Finger syndactyly, Clinodactyly of the 5th finger, Brachydactyly, Short toe ORPHA:1519
Roberts-Sc Phocomelia Syndrome
Abnormality of the metacarpal bones, Radial deviation of finger, Clinodactyly, Syndactyly, Wrist ... OMIM:268300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hip dysplasia, Broad distal phalanx of finger, Deviation of the hallux, Broad thumb, Abnormal pro... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hip dysplasia, Broad distal phalanx of finger, Deviation of the hallux, Broad thumb, Abnormal pro... ORPHA:353277
Doors Syndrome
Short 5th finger, Abnormality of finger, Sirenomelia, Aplasia/Hypoplasia of the phalanges of the ... ORPHA:79500
Microphthalmia, Syndromic 6
Flexion contracture of thumb, Preaxial hand polydactyly, Toe syndactyly, Finger syndactyly, Polyd... OMIM:607932
Proteus Syndrome
Abnormality of finger, Finger syndactyly, Sirenomelia, Upper limb asymmetry, Macrodactyly, Abnorm... ORPHA:744
Fontaine Progeroid Syndrome
Absent distal phalanges, Deep palmar crease, Syndactyly, Short distal phalanx of finger OMIM:612289
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly OMIM:618820
Hennekam Syndrome
Camptodactyly of finger, Finger syndactyly ORPHA:2136
Coffin-Siris Syndrome 12
Hip subluxation, Broad thumb, Radioulnar synostosis, Slender finger, Short thumb, Cutaneous synda... OMIM:619325
Elsahy-Waters Syndrome
Cutaneous syndactyly, Brachydactyly OMIM:211380
Microphthalmia, Syndromic 1
Abnormal palmar dermatoglyphics, Camptodactyly, Down-sloping shoulders, Radial deviation of finge... OMIM:309800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Genu valgum, Camptodactyly, Adducted thumb, Broad hallux, Ulnar deviation of the hand, Syndactyly... ORPHA:261537
Fraser Syndrome
Toe syndactyly, Wide pubic symphysis, Finger syndactyly ORPHA:2052
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Genu valgum, Camptodactyly, Adducted thumb, Broad hallux, Ulnar deviation of the hand, Syndactyly... ORPHA:261552
Mowat-Wilson Syndrome
Genu valgum, Camptodactyly, Broad hallux, Ulnar deviation of the hand, Syndactyly, Long toe, Calc... ORPHA:2152

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 Adamts5

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 Adamts5.

No publications found that use IMPC mice or data for Adamts5.

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MGI Allele Allele Type Produced
Adamts5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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