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Gene: Adamts5 MGI:1346321

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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:
ADAM metallopeptidase with thrombospondin type 1 motif 5
Synonyms:
ADAM-TS5,  9530092O11Rik

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 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
2-3 toe syndactyly, Toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges ... ORPHA:93402
Digital Clubbing, Isolated Congenital
Clubbing OMIM:119900
Syndactyly, Type Iii
Short 5th finger, Toe syndactyly, Absent middle phalanx of 5th finger, 4-5 finger syndactyly, 3-4... OMIM:186100
Tendons, Extensor, Of Fingers, Anomalous Insertion Of
Abnormal finger morphology OMIM:187390
Trigger Thumb
Abnormal thumb morphology OMIM:190410
Hallux Varus And Preaxial Polysyndactyly
Hallux varus, Syndactyly, Broad hallux, Preaxial hand polydactyly OMIM:234280
Triphalangeal Thumb With Polysyndactyly
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Triphalangeal thumb, Postaxial hand po... OMIM:190605
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Syndactyly Type 3
Short toe, Finger syndactyly, Camptodactyly of finger ORPHA:93404
Intellectual Developmental Disorder, Autosomal Recessive 33
Short toe, Syndactyly OMIM:614341
Polydactyly, Postaxial, Type A5
Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis, Postaxial hand polydactyly OMIM:263450
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Acropectoral Syndrome
Finger syndactyly, Preaxial hand polydactyly ORPHA:85203
Polydactyly, Preaxial Iv
Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, Duplication of thumb... OMIM:174700
Syndactyly, Type Iv
Supernumerary metacarpal bones, 1-5 finger complete cutaneous syndactyly, Polydactyly, 2-3 toe sy... OMIM:186200
Intellectual Disability-Spasticity-Ectrodactyly Syndrome
Finger syndactyly, Abnormal hip bone morphology, Bilateral single transverse palmar creases, Clin... ORPHA:1891
Spinal Muscular Atrophy With Impaired Intellectual Development
Syndactyly OMIM:271109
Chromosome 2Q35 Duplication Syndrome
2-3 toe syndactyly, Cutaneous syndactyly, Distal symphalangism of hands, 3-4 finger syndactyly OMIM:185900
Syndactyly Type 5
Short distal phalanx of finger, Ulnar deviation of finger, Camptodactyly of finger, 2-3 toe synda... ORPHA:93406
Liebenberg Syndrome
Elbow flexion contracture, Joint contracture of the 5th finger, Radially deviated wrists, 2-3 fin... OMIM:186550
Wahab Syndrome
Short thumb, Clinodactyly, Adducted thumb, Camptodactyly, Short foot, Short metacarpal, Short pal... OMIM:615170
Brachydactyly, Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Broad hallux, Ulnar deviation of the ... OMIM:112600
Ectrodactyly-Polydactyly Syndrome
Finger syndactyly, Ectrodactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Brachyd... ORPHA:1892
Camptosynpolydactyly, Complex
Camptodactyly, Syndactyly, Cutaneous syndactyly, Polydactyly OMIM:607539
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Hip dysplasia ORPHA:71289
Split-Hand/Foot Malformation 6
Finger aplasia, Toe syndactyly, Finger syndactyly, Foot oligodactyly, Split hand, Split foot OMIM:225300
Symphalangism With Multiple Anomalies Of Hands And Feet
Abnormality of the distal phalanges of the toes, Absent distal interphalangeal creases, Toe synda... ORPHA:3246
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Aplasia/Hypoplasia of the hallux, Sym... OMIM:609432
Brachydactyly-Syndactyly Syndrome
Finger syndactyly, Oligodactyly, Short digit, Brachydactyly, Camptodactyly, Short phalanx of fing... OMIM:610713
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of the phalanges of the toes, Ectrodactyly, Aplasia/Hypoplasia involving the m... OMIM:605289
Brachydactyly Type A7
Broad distal phalanx of the thumb, Broad thumb, Broad phalanges of the 2nd toe, Sandal gap, Aplas... ORPHA:93397
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Polydactyly, Limited... ORPHA:3269
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short phalanx of finger, Short metacarpal, Split foot OMIM:313350
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Triphalangeal Thumb, Nonopposable
Triphalangeal thumb, Polydactyly OMIM:190600
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, Short 5th metacarpal, Clinodactyly of the 5th finger, 4-5 metacarpa... OMIM:309630
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction
Toe syndactyly, Synostosis of carpal bones, Short thumb, Finger syndactyly, Aplasia/Hypoplasia of... ORPHA:157801
Chromosome 2Q31.1 Duplication Syndrome
Absent thumb, Short thumb, Talipes equinovarus, Triphalangeal thumb, 3-4 finger cutaneous syndactyly OMIM:613681
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Syndactyly, Type V
Short distal phalanx of finger, Joint contracture of the hand, Carpal synostosis, 3-4 toe syndact... OMIM:186300
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
2-4 toe syndactyly, Syndactyly OMIM:241000
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Syndactyly-Polydactyly-Earlobe Syndrome
Bifid distal phalanx of toe, Preaxial hand polydactyly, Preaxial foot polydactyly, 1-2 toe comple... OMIM:186350
Heart-Hand Syndrome, Slovenian Type
Brachydactyly, Syndactyly, Clinodactyly, Aplasia of the middle phalanx of the hand OMIM:610140
Glycoprotein Storage Disease
Gout OMIM:232900
Cleft-Limb-Heart Malformation Syndrome
Syndactyly OMIM:215850
Craniosynostosis, Philadelphia Type
Finger syndactyly ORPHA:1527
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Split-Foot Malformation With Mesoaxial Polydactyly
Mesoaxial hand polydactyly, 1-2 toe syndactyly, 4-5 toe syndactyly, Split hand, Split foot OMIM:616890
Sugarman Brachydactyly
Proximal placement of hallux, Short proximal phalanx of finger, Brachydactyly, Symphalangism affe... OMIM:272150
Brachydactyly Type B2
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Short toe, Type B ... ORPHA:140908
Brachydactyly Type B
Short distal phalanx of finger, Synostosis of carpal bones, Finger syndactyly, Type B brachydacty... ORPHA:93383
Split-Hand/Foot Malformation 1
Finger aplasia, Broad hallux, Ectrodactyly, Clinodactyly, Foot oligodactyly, Triphalangeal thumb,... OMIM:183600
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Aplasia/Hypoplasia of the distal phalanx of t... ORPHA:488232
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Aplasia/Hypoplasia of toe, Cutaneous finger syndactyly, Duplication of metatarsal bones, Syndactyly OMIM:600384
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Santos Syndrome
Preaxial polydactyly, Oligodactyly, Genu valgum, Polydactyly, Postaxial polydactyly, Talipes equi... OMIM:613005
Crossed Polysyndactyly
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Postaxial hand polydactyly ORPHA:2935
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Syndactyly, Postaxial hand polydactyly OMIM:615938
Intellectual Developmental Disorder, Autosomal Dominant 4
Short toe, Syndactyly OMIM:612581
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Multiple Synostoses Syndrome 3
Broad thumb, Cutaneous syndactyly of toes, Broad hallux, Humeroradial synostosis, Cubitus valgus,... OMIM:612961
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... OMIM:246570
Acropectorovertebral Dysplasia
Broad thumb, Toe syndactyly, Short thumb, Synostosis of carpal bones, Finger syndactyly, Radial d... OMIM:102510
Polydactyly, Preaxial Iii
Triphalangeal thumb, Preaxial polydactyly OMIM:174600
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Camptobrachydactyly
Ulnar deviation of finger, Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Aplasia/Hy... ORPHA:1319
Bardet-Biedl Syndrome 5
Syndactyly, Brachydactyly, Polydactyly OMIM:615983
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Synpolydactyly 2
Toe syndactyly, Carpal synostosis, Polydactyly, Tarsal synostosis, Metatarsal synostosis, Metacar... OMIM:608180
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Cutaneous finger syndactyly, 2-3 toe syndactyly, Split hand, Split foot DECIPHER:46
Proximal Symphalangism
Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Finger clinodactyly, Camptodact... ORPHA:3250
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Triphalangeal Thumbs With Brachyectrodactyly
Triphalangeal thumb, Brachydactyly, Split hand, Short 3rd toe, Short 2nd finger, Split foot OMIM:190680
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly ORPHA:294975
Brachydactyly, Type B2
Short distal phalanx of finger, Cutaneous syndactyly of toes, Distal symphalangism of hands, Shor... OMIM:611377
Aphalangy-Syndactyly-Microcephaly Syndrome
Short distal phalanx of finger, Toe syndactyly, Postaxial foot polydactyly, Camptodactyly of fing... ORPHA:1113
15Q11Q13 Microduplication Syndrome
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:238446
Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome
Joint contracture of the hand, 1-4 finger syndactyly, 3-4 toe syndactyly, 2-4 finger syndactyly, ... OMIM:225280
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Aurocephalosyndactyly
4-5 toe syndactyly OMIM:109050
Isolated Split Hand-Split Foot Malformation
Oligodactyly, Absent hand, Split hand, Finger syndactyly ORPHA:2440
Camptobrachydactyly
Short toe, Hand polydactyly, Brachydactyly, Congenital finger flexion contractures, Syndactyly OMIM:114150
Postaxial Tetramelic Oligodactyly
Abnormal finger morphology, Abnormal metacarpal morphology, Oligodactyly, Ectrodactyly ORPHA:2730
Split-Foot Deformity With Mandibulofacial Dysostosis
Toe syndactyly, Split hand, Split foot OMIM:183700
Laurin-Sandrow Syndrome
Patellar aplasia, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius, Fibular dup... OMIM:135750
Feingold Syndrome 2
Short thumb, 3-4 toe syndactyly, Short middle phalanx of the 2nd finger, 2-3 toe syndactyly, Shor... OMIM:614326
Jawad Syndrome
Postaxial polydactyly, Hallux valgus, 4-5 toe syndactyly, Single interphalangeal crease of fifth ... OMIM:251255
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Radioulnar synostosis, Clinodactyly of the 5th finger, Finger syndactyly, Abnormality of the elbow ORPHA:3268
Feingold Syndrome Type 2
Short middle phalanx of finger, Toe syndactyly, Brachydactyly, Short thumb ORPHA:391646
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Clinodactyly of the 5th finger, Syndactyly, Tapered finger OMIM:618725
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Banki Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Synostosis of carpal bones, Brach... ORPHA:1228
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... ORPHA:2141
Ectrodactyly-Polydactyly
Split hand, Split foot, Postaxial hand polydactyly OMIM:225290
Acropectorovertebral Dysplasia
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... ORPHA:957
Hypotrichosis-Intellectual Disability, Lopes Type
1-5 finger complete cutaneous syndactyly ORPHA:2266
Adams-Oliver Syndrome 3
Short distal phalanx of finger, Short 5th toe, 2-3 toe syndactyly, Short metatarsal, Absent toe, ... OMIM:614814
Tetramelic Monodactyly
Hand monodactyly, Split hand, Split foot, Foot monodactyly OMIM:187510
Gordon Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Camptodactyly of finger ORPHA:376
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Brachydactyly, Clinodactyly, Syndactyly OMIM:610023
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Sclerosteosis
Curved distal phalanges of the hand, Finger syndactyly, Diaphyseal undertubulation, 2-3 finger sy... ORPHA:3152
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Genu valgum, Cutaneous syndactyly, Spindle-shaped ... ORPHA:166024
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Elbow dislocation, Camptodactyly of finger, ... ORPHA:2633
Bardet-Biedl Syndrome 4
Syndactyly, Brachydactyly, Polydactyly OMIM:615982
Tetramelic Monodactyly
Oligodactyly, Split hand ORPHA:2564
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Cutaneous finger syndactyly, Type B brachydactyly, Sh... OMIM:113000
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial foot polydactyly, Genu valgum, Polydacty... ORPHA:65759
Jackson-Weiss Syndrome
Broad hallux, Short first metatarsal, 2-3 toe syndactyly, Broad first metatarsal, Hallux varus, B... OMIM:123150
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Charlie M Syndrome
Finger syndactyly, Abnormal metacarpal morphology, Triphalangeal thumb, Split hand, Brachydactyly ORPHA:1406
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Limb-Mammary Syndrome
Joint contracture of the hand, Hallux valgus, Split hand, Camptodactyly, Split foot, Syndactyly OMIM:603543
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Boomerang Dysplasia
Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor... ORPHA:1263
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... ORPHA:3210
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Palmoplantar keratoderma, Short thumb, Finger syndactyly, Camptodactyly of finger, Triphalangeal ... ORPHA:2251
Grange Syndrome
Short palm, Syndactyly ORPHA:79094
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Cam... OMIM:300244
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Neuralgic Amyotrophy
Upper limb amyotrophy, Scapular winging, Syndactyly ORPHA:2901
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Y-shaped metatarsals, Bro... OMIM:175700
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina... OMIM:605432
Epidermolysis Bullosa, Lethal Acantholytic
Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tapered distal ... OMIM:609638
Pfeiffer Syndrome Type 1
Broad thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hallux varus, Sh... ORPHA:93258
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly, Carpal synostosis, Radioulnar synostosis, Brachydactyly, Short metatarsal, Hitchhik... OMIM:605282
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Postaxial polydactyly type A, Broad hallux, 2-3 toe syndactyly, 2-3 finger syndactyly, Postaxial ... OMIM:217085
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Brachydactyly, Osteolysis involving bones of the upper limbs, Camptodactyly, Osteol... ORPHA:88630
Hypomelanosis Of Ito
Radial deviation of finger, Hand polydactyly, Clinodactyly, Syndactyly OMIM:300337
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Abnormality of the wrist, Abnormal thumb morphology, Finger syndactyly, Proximal placement of thumb ORPHA:1825
Poland Syndrome
Unilateral oligodactyly, Unilateral brachydactyly, Hypoplasia of deltoid muscle, Syndactyly OMIM:173800
Tukel Syndrome
Carpal bone aplasia, Syndactyly, Carpal synostosis, Postaxial oligodactyly OMIM:609428
Ectodermal Dysplasia-Syndactyly Syndrome 2
Palmoplantar keratoderma, Syndactyly OMIM:613576
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Schizophrenia 1
Short proximal phalanx of the 4th toe, Syndactyly OMIM:181510
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Clinodactyly of the 5th finger, Toe syndactyly, Syndactyly OMIM:601163
Bardet-Biedl Syndrome 9
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Brachydactyly, Postaxial hand pol... OMIM:615986
Oligoarticular Juvenile Idiopathic Arthritis
Rheumatoid arthritis, Abnormality of the ankle, Autoimmunity, Joint hypermobility, Knee osteoarth... ORPHA:85410
Ectodermal Dysplasia With Impaired Intellectual Development And Syndactyly
2-3 toe syndactyly, 3-4 finger syndactyly OMIM:600906
Aplasia Cutis Congenita
Toe syndactyly, Finger syndactyly ORPHA:1114
Monosomy 5P
Small hand, Finger syndactyly ORPHA:281
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Aminopterin Syndrome Sine Aminopterin
Joint contracture of the hand, Clinodactyly, Short thumb, Arachnodactyly, Brachydactyly, Rudiment... OMIM:600325
Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities
Clinodactyly, Syndactyly OMIM:619091
Joubert Syndrome 33
Syndactyly OMIM:617767
Joubert Syndrome 17
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly OMIM:614615
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Klippel-Trenaunay-Weber Syndrome
Macrodactyly, Hand polydactyly, Finger aplasia, Syndactyly OMIM:149000
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Abnormality of thumb p... ORPHA:1553
Periventricular Nodular Heterotopia 1
Syndactyly, Clinodactyly, Short finger OMIM:300049
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Nevus Comedonicus Syndrome
Toe syndactyly, Finger syndactyly, Preaxial polydactyly ORPHA:64754
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... ORPHA:93323
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antiphospholipid antibody positivity, Antinu... OMIM:152700
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Long Qt Syndrome 8
Syndactyly OMIM:618447
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Down-sloping shou... ORPHA:392
Ectodermal Dysplasia-Syndactyly Syndrome 1
2-3 toe cutaneous syndactyly, Cutaneous finger syndactyly, 2-4 finger syndactyly, 4-5 toe syndact... OMIM:613573
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal femur morphology, Abnormal me... ORPHA:3429
Bardet-Biedl Syndrome 6
Postaxial polydactyly, Syndactyly OMIM:605231
Temtamy Preaxial Brachydactyly Syndrome
Tibial deviation of the 2nd toe, Clinodactyly of the 2nd finger, Radial deviation of finger, Cuta... ORPHA:363417
Eem Syndrome
Finger syndactyly, Ectrodactyly ORPHA:1897
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Weaver Syndrome
Broad thumb, Finger syndactyly, Sandal gap, Camptodactyly of finger, Talipes equinovarus, Large h... ORPHA:3447
Cranioectodermal Dysplasia
Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abnormal diaphysis morphology, Bra... ORPHA:1515
Cutis Laxa, Autosomal Recessive, Type Iie
Deep palmar crease, Brachydactyly, Genu varum, Clinodactyly of the 5th finger, Hip dislocation, S... OMIM:619451
Vertical Talus, Congenital
Arthritis OMIM:192950
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:1788
Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome
2-3 finger syndactyly ORPHA:1338
Laurence-Moon Syndrome
Hand polydactyly, Brachydactyly, Finger syndactyly, Bilateral single transverse palmar creases ORPHA:2377
Pfeiffer Syndrome
Broad thumb, Synostosis of carpal bones, Finger syndactyly, Brachydactyly, Hip dysplasia, Clinoda... ORPHA:710
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Arachnodactyly, Triph... ORPHA:2994
Epidermolysis Bullosa, Junctional 1B, Severe
Syndactyly OMIM:226700
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Congenital bilateral hip dislocation, Syndactyly ORPHA:404451
Pfeiffer Syndrome
Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneous syndactyly, Fin... OMIM:101600
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ... ORPHA:85414
Polysyndactyly With Cardiac Malformation
Duplication of phalanx of hallux, Syndactyly, Preaxial hand polydactyly OMIM:263630
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Aplasia/hypoplasia of the humeru... ORPHA:3320
Rubinstein-Taybi Syndrome 2
Broad thumb, Prominent fingertip pads, Short 5th toe, Broad hallux, Short first metatarsal, Synda... OMIM:613684
6P22 Microdeletion Syndrome
Finger syndactyly, Clinodactyly ORPHA:251046
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna, Metacarpal... OMIM:212780
Craniofrontonasal Dysplasia
Finger syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Hand polydactyly,... ORPHA:1520
Adams-Oliver Syndrome 6
Foot oligodactyly, Brachydactyly, Syndactyly OMIM:616589
Hoxha-Aliu Syndrome
Short fifth metatarsal, Short distal phalanx of finger, Abnormal epiphysis morphology, Short 4th ... OMIM:620662
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Arachnodactyly, Clinodactyly, Syndactyly OMIM:619092
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Hypoplasia of the ulna, Short l... ORPHA:2256
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Abnormal pelvis bone ossification, Abnormal... ORPHA:166119
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... OMIM:106300
Charcot-Marie-Tooth Disease, Type 4B3
Syndactyly OMIM:615284
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
17Q12 Microduplication Syndrome
Toe syndactyly, Finger syndactyly ORPHA:261272
Blepharocheilodontic Syndrome 2
Cutaneous syndactyly OMIM:617681
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Finger aplasia, Absent toe, Clinodactyly of the 2nd finger, Clinodactyly of the 3rd finger, Clino... OMIM:620663
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Ring Chromosome 21 Syndrome
Small hand, Syndactyly, Clinodactyly, Narrow palm ORPHA:1445
Subcorneal Pustular Dermatosis
Pustule, Rheumatoid arthritis, Autoimmunity, Systemic lupus erythematosus ORPHA:48377
Filippi Syndrome
2-4 toe syndactyly, Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly OMIM:272440
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Postaxial polydactyly, Brachydactyly, Sho... OMIM:615503
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Polydactyly, Syndactyly OMIM:602501
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Brachydactyly, Split hand, Finger syndactyly ORPHA:2145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Postaxial polydactyly, Brachydactyly, Hypoplasia of the radius, Syn... OMIM:617895
Cenani-Lenz Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Short thumb, Ol... ORPHA:3258
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Craniodigital-Intellectual Disability Syndrome
Finger syndactyly ORPHA:1514
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Short 5th finger, Broad thumb, Sandal gap, Broad hallux, 2-3 toe syndactyly, Cutaneous syndactyly... OMIM:600987
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Camptodactyly, Syndactyly OMIM:616006
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Aplasia/Hypoplasia of the phalanges of the toes, Abnormal pelvic girdle bone morphology, Toe synd... ORPHA:1112
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... OMIM:614091
Macrodactyly
Macrodactyly OMIM:155500
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Mesomelic/rhizomelic limb shor... ORPHA:2839
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Toe clinodactyly, Broad thumb, Monkey wrench femoral neck, Single transvers... OMIM:615777
Acrofrontofacionasal Dysostosis 2
Hand polydactyly, Broad thumb, Broad hallux, Syndactyly OMIM:239710
Anemia, Congenital Dyserythropoietic, Type Ib
Syndactyly OMIM:615631
Teebi Hypertelorism Syndrome 2
Clinodactyly of the 5th finger, Syndactyly OMIM:619736
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Single transverse palmar crease, 2-3 toe syndactyly, Talipes equinovarus, Cutaneous syndactyly, B... OMIM:236500
Acrootoocular Syndrome
Small hypothenar eminence, Short toe, Sandal gap, Short finger, Decreased palmar creases, Abnorma... ORPHA:2980
Ritscher-Schinzel Syndrome 2
Short distal phalanx of finger, Prominent fingertip pads, Broad hallux, Camptodactyly of finger, ... OMIM:300963
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot polydactyly, Elbow disloc... ORPHA:1106
Blepharo-Cheilo-Odontic Syndrome
Finger syndactyly ORPHA:1997
Pfeiffer Syndrome Type 2
Deviation of the thumb, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus,... ORPHA:93259
Silver-Russell Syndrome 1
Clinodactyly of the 5th finger, Short distal phalanx of the 5th finger, Short middle phalanx of t... OMIM:180860
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Abnormal metacarpal morphology, Toe syndactyly, Short hallux, Finger syndactyly ORPHA:3224
20P13 Microdeletion Syndrome
Brachydactyly, Finger syndactyly, Clinodactyly, Polydactyly ORPHA:313781
White Forelock With Malformations
Clinodactyly of the 5th finger, Finger syndactyly ORPHA:2475
Grange Syndrome
Brachydactyly, Finger clinodactyly, Syndactyly OMIM:602531
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Camptodactyly of finger, Single transverse palmar crease, Broad pa... ORPHA:915
ERI1-related disease
Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow extension, Taper... OMIM:608739
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Ectrodactyly, Polydactyly, Clinodactyly of the 5th finger, Syndactyly ORPHA:397590
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Arachnodactyly, Toe syndactyly, Finger syndactyly, Short palm ORPHA:73246
Silver-Russell Syndrome 3
Clinodactyly of the 5th finger, Small hand, Syndactyly OMIM:616489
Blepharocheilodontic Syndrome 1
Cutaneous syndactyly, Clinodactyly OMIM:119580
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger ORPHA:246
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Single transverse palmar crease, 2-3 finge... ORPHA:2437
Aarskog-Scott Syndrome
Short 5th finger, Clinodactyly, Radial deviation of finger, Single transverse palmar crease, Synd... OMIM:305400
Kury-Isidor Syndrome
Finger syndactyly, Talipes equinovarus, Brachydactyly, Hip dysplasia, Rocker bottom foot, Proxima... OMIM:619762
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent aphthous stomatitis, Autoimmunity, Skin rash, Otitis media, Hashimoto thyroiditis, Juve... ORPHA:275
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the distal phalanges of the toes, Toe syndactyly, Absent thumb, Finger synd... ORPHA:1234
Larsen Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Abnormal epiphysis m... ORPHA:503
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Synostosis of carpal bones, Finger syndactyly, Camptodactyly of finger ORPHA:1323
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Brachydactyly, Syndactyly OMIM:614800
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Camptodactyly, Finger syndactyly, Single transverse palmar crease, Tapered finger ORPHA:435938
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Clinodactyly, Syndactyly OMIM:618087
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Hypoplastic scapulae, Finger syndactyly, Aplasia of the distal phalan... OMIM:308050
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... ORPHA:251014
Rothmund-Thomson Syndrome, Type 3
Short distal phalanx of finger, Talipes equinovarus, Short digit, Brachydactyly, Proximal placeme... OMIM:615789
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Choroidal Atrophy-Alopecia Syndrome
Finger syndactyly ORPHA:1433
Pfeiffer Syndrome Type 3
Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Hallux varus, Short hallux, Short foo... ORPHA:93260
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Finger syndactyly, Short middle phalanx of finger, Brachydactyly, Cli... ORPHA:1005
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Foot polydactyly, Hand polydactyly, Toe syndactyly, Finger syndactyly ORPHA:60040
Hypoglossia-Hypodactyly Syndrome
Aplasia/Hypoplasia of fingers, Short distal phalanx of finger, Finger syndactyly, Adactyly, Upper... ORPHA:989
Endocrine-Cerebroosteodysplasia
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Tibial bowing, Single transverse pa... OMIM:612651
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Bilateral single transverse palmar creases, Brachy... ORPHA:1001
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Ulnar deviation of thumb, ... OMIM:142900
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Single transverse palmar crease, 2-3 toe syndactyly, Radioulnar synostosis, Brachydactyly, Coxa v... OMIM:614701
Rubinstein-Taybi Syndrome
Clubbing of toes, Broad thumb, Finger syndactyly, Abnormal distal phalanx morphology of finger, B... ORPHA:783
Filippi Syndrome
Finger syndactyly, Bilateral single transverse palmar creases, Clinodactyly of the 5th toe, Enlar... ORPHA:3255
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Camptodactyly, Abnormality of the hand, Clinodactyly, Syndactyly ORPHA:369891
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Skin rash, Autoimmune hemolytic anemia, Autoimmune thrombocyt... ORPHA:100026
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Y-shaped metatarsals, Preaxial hand polydactyly, Dist... OMIM:146510
Kbg Syndrome
Cutaneous syndactyly, Single transverse palmar crease, Finger clinodactyly ORPHA:2332
Alkuraya-Kucinskas Syndrome
Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, Talipes equinovarus, Cutaneou... OMIM:617822
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Hallu... ORPHA:2008
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Long toe, Cutaneous syndactyly, Long fingers OMIM:618316
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Clinodactyly of the 5th finge... ORPHA:158687
Pyoderma Gangrenosum
Myositis, Inflammation of the large intestine, Rheumatoid arthritis, Pustule ORPHA:48104
Acrofacial Dysostosis, Catania Type
Small hand, Finger syndactyly, Bilateral single transverse palmar creases, Brachydactyly, Clinoda... ORPHA:1786
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... ORPHA:331235
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... OMIM:274000
Pili Torti-Onychodysplasia Syndrome
Cutaneous syndactyly, Palmoplantar keratoderma ORPHA:2890
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Sandal gap, Radial deviation of finger, Proximal p... ORPHA:3103
Blepharonasofacial Malformation Syndrome
Finger syndactyly ORPHA:1252
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Split ... ORPHA:958
Microphthalmia With Brain And Digit Anomalies
Postaxial foot polydactyly, Proximal placement of thumb, Finger syndactyly ORPHA:139471
19Q13.11 Microdeletion Syndrome
Toe clinodactyly, Congenital hip dislocation, Toe syndactyly, Finger syndactyly, Clinodactyly of ... ORPHA:217346
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent hand, Aplasia/Hypoplasia involving th... ORPHA:570
X Small Rings
Toe syndactyly, Upper limb undergrowth, Lower limb undergrowth, 2-3 toe syndactyly, Cutaneous syn... ORPHA:96201
Ring Chromosome 12 Syndrome
Abnormal 5th finger morphology, Symphalangism of the thumb, Clinodactyly, Syndactyly ORPHA:1439
Apert Syndrome
Delayed epiphyseal ossification, Broad distal phalanx of the thumb, Broad thumb, Synostosis of ca... OMIM:101200
Cri-Du-Chat Syndrome
Single transverse palmar crease, Metatarsus adductus, Short metatarsal, Short metacarpal, High ax... OMIM:123450
Adams-Oliver Syndrome
Short distal phalanx of finger, Finger syndactyly, Absent hand, Abnormal metacarpal morphology, B... ORPHA:974
Tarp Syndrome
Clinodactyly, Single transverse palmar crease, Postaxial polydactyly, Talipes equinovarus, Short ... OMIM:311900
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Small hand, Finger syndactyly ORPHA:1787
Rhombencephalosynapsis
Complete duplication of thumb phalanx, Short phalanx of finger, Finger syndactyly, Polydactyly ORPHA:59315
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Broad toe, Dis... OMIM:268310
Complex Regional Pain Syndrome
Allodynia ORPHA:83452
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... ORPHA:183675
Orofaciodigital Syndrome Type 6
Finger clinodactyly, Preaxial polydactyly, Hand polydactyly, Mesoaxial polydactyly, Brachydactyly... ORPHA:2754
19P13.12 Microdeletion Syndrome
Toe clinodactyly, Sandal gap, Finger syndactyly, Deep palmar crease, Clinodactyly of the 5th fing... ORPHA:254346
Adams-Oliver Syndrome 5
Brachydactyly, Syndactyly OMIM:616028
Bohring-Opitz Syndrome
Short toe, Overlapping toe, Mesomelic/rhizomelic limb shortening, Tapered finger, Deep palmar cre... OMIM:605039
Neurotrophic Keratopathy
Anterior uveitis, Allodynia ORPHA:137596
8Q22.1 Microdeletion Syndrome
Sandal gap, Finger syndactyly, Camptodactyly of finger ORPHA:178303
Oculocerebrocutaneous Syndrome
Short distal phalanx of finger, Congenital hip dislocation, Finger syndactyly, Hand polydactyly, ... ORPHA:1647
Curry-Jones Syndrome
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Preaxial foot polydactyly, Duplicatio... OMIM:601707
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Clinodactyly, Brachydactyly, Proximal placement of thumb, Short palm, Syndactyly OMIM:217980
Goldberg-Shprintzen Megacolon Syndrome
Finger syndactyly ORPHA:66629
Myoclonic-Astatic Epilepsy
Syndactyly ORPHA:1942
Sclerosteosis 1
Abnormal pelvic girdle bone morphology, Deviation of finger, 2-3 finger syndactyly, Cortically de... OMIM:269500
Multiple Pterygium-Malignant Hyperthermia Syndrome
Ulnar deviation of finger, Finger syndactyly, Camptodactyly of finger, Hemiatrophy, Long palm, Ar... ORPHA:2215
Ritscher-Schinzel Syndrome 1
Syndactyly OMIM:220210
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... ORPHA:206572
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Radioulnar synostosis, Hypoplasia of the radius, Hypopla... OMIM:263750
Methylcobalamin Deficiency Type Cble
Clinodactyly, Syndactyly ORPHA:2169
Oculodentodigital Dysplasia
Toe syndactyly, Palmoplantar keratoderma, Finger syndactyly, Clinodactyly, Preaxial hand polydact... ORPHA:2710
Hamamy Syndrome
Down-sloping shoulders, Long toe, Tapered finger, Long fingers, Hip dysplasia, Short 2nd finger, ... OMIM:611174
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the thumb, Micromelia, Finger syndactyly, Mesomelia ORPHA:1908
Cohen Syndrome
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Narrow palm, Arachnodac... ORPHA:193
Orofaciodigital Syndrome Type 2
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... ORPHA:2751
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Coxa valga, Short hallux, Abnormal metaphysis ... ORPHA:1517
Stolerman Neurodevelopmental Syndrome
Clinodactyly of the 5th finger, Broad palm, Syndactyly OMIM:618505
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Antiphospholipid a... ORPHA:227990
Basel-Vanagaite-Smirin-Yosef Syndrome
Deviation of the 2nd finger, Finger syndactyly, Clinodactyly, Overlapping toe, Contracture of the... ORPHA:464738
Trigeminal Neuralgia
Allodynia ORPHA:221091
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Syndactyly OMIM:614520
Teebi-Shaltout Syndrome
Caudal appendage, Single transverse palmar crease, Talipes equinovarus, Ulnar deviation of the ha... OMIM:272950
Meckel Syndrome 14
Postaxial foot polydactyly, Bowing of the long bones, Postaxial polydactyly, Postaxial hand polyd... OMIM:619879
Chromosome 13Q33-Q34 Deletion Syndrome
Short thumb, Overlapping toe, Distally placed thumb, Single transverse palmar crease, Talipes equ... OMIM:619148
Constricting Bands, Congenital
Talipes equinovarus, Hand polydactyly, Syndactyly OMIM:217100
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Radial deviat... OMIM:305450
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Bilateral single transverse palmar creases, Triphalangeal thumb, ... ORPHA:794
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Osteopenia, Rheumatoid arthritis, Hepatitis, Autoimmunity, Hashimoto thyroidi... ORPHA:227982
Mckusick-Kaufman Syndrome
Postaxial foot polydactyly, Finger syndactyly, Abnormal metacarpal morphology, Brachydactyly, Pos... ORPHA:2473
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Radial deviation of finger, Postaxial polydactyly, Brachydactyly, Pos... OMIM:209900
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... OMIM:607944
Thymoma
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Timothy Syndrome
Cutaneous syndactyly OMIM:601005
Pudendal Neuralgia
Allodynia ORPHA:60039
Multiple Pterygium Syndrome, Escobar Variant
Ulnar deviation of finger, Patellar aplasia, Acetabular dysplasia, Down-sloping shoulders, Arachn... OMIM:265000
Neu-Laxova Syndrome 2
Rocker bottom foot, Toe syndactyly, Finger syndactyly OMIM:616038
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Split hand, Finger syndactyly ORPHA:1300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Congenital hip dislocation, Cubitus valgus, Syndactyly OMIM:104350
Kbg Syndrome
Radial deviation of finger, Ulnar deviation of the 2nd finger, Single transverse palmar crease, C... OMIM:148050
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... ORPHA:79128
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Abnormal shoulder morphology, Clinodactyly of the 5th... ORPHA:568
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Poland Syndrome
Small hand, Aplasia/Hypoplasia of the radius, Cone-shaped epiphysis, Finger syndactyly, Absent ha... ORPHA:2911
Anterior Cutaneous Nerve Entrapment Syndrome
Allodynia ORPHA:51890
Prader-Willi Syndrome
Small hand, Radial deviation of finger, Clinodactyly, Genu valgum, Narrow palm, Hip dysplasia, Ac... OMIM:176270
Adult Syndrome
Toe syndactyly, Finger syndactyly, Split foot ORPHA:978
3C Syndrome
Hand polydactyly, Brachydactyly, Finger syndactyly, Abnormal hip bone morphology ORPHA:7
Faciodigitogenital Syndrome, Autosomal Recessive
Down-sloping shoulders, Broad palm, Metatarsus adductus, Camptodactyly, Clinodactyly of the 5th f... OMIM:227330
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Short 5th metacarpal, Bilateral single transverse palmar creas... ORPHA:264200
Chromosome 8Q21.11 Deletion Syndrome
Camptodactyly, Short metacarpal, Absent palmar crease, Syndactyly OMIM:614230
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Brachydactyly, Camptodactyly, Short phalanx of finger, Mesomelia, Synd... OMIM:616894
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
2-3 toe cutaneous syndactyly, Talipes equinovarus, Cutaneous syndactyly, Camptodactyly, 3-4 finge... OMIM:620029
Autosomal Recessive Robinow Syndrome
Short distal phalanx of finger, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, El... ORPHA:1507
Lenz-Majewski Hyperostotic Dwarfism
Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Elbow flexion contract... OMIM:151050
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Finger syndactyly, Abnormal thumb morphology, Single transverse p... ORPHA:93932
Combined Oxidative Phosphorylation Deficiency 25
Syndactyly OMIM:616430
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Toe syndactyly, Palmoplantar hyperkeratosis, Finger syndactyly, Bilateral single transverse palma... ORPHA:3253
Mckusick-Kaufman Syndrome
Congenital hip dislocation, Syndactyly, Mesoaxial hand polydactyly, Postaxial hand polydactyly OMIM:236700
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Spinal Cord Injury
Allodynia ORPHA:90058
Igg4-Related Retroperitoneal Fibrosis
Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif... ORPHA:49041
Cerebrofacioarticular Syndrome
Camptodactyly, Talipes equinovarus, Caudal appendage, Syndactyly ORPHA:314679
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Absent thumb, Short thumb, Oligodactyly, Hypoplastic iliac wing, Ulnar bowi... OMIM:263650
Apert Syndrome
Broad thumb, Toe syndactyly, Micromelia, Finger syndactyly, Aplasia/Hypoplasia of the thumb ORPHA:87
8Q21.11 Microdeletion Syndrome
Abnormal metacarpal morphology, Finger syndactyly, Camptodactyly of finger, Absent palmar crease ORPHA:284160
Yunis-Varon Syndrome
Hip dislocation, Absent thumb, Short toe, Aplasia of the distal phalanx of the hallux, Shortening... ORPHA:3472
Limb-Mammary Syndrome
Toe syndactyly, Oligodactyly, Clinodactyly of the 5th finger, 3-4 finger cutaneous syndactyly, Sy... ORPHA:69085
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydactyly, Preaxia... OMIM:200990
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Single transverse palmar crease, ... ORPHA:2886
Mosaic Trisomy 16
Short forearm, Short thumb, Clinodactyly, Single transverse palmar crease, Short femoral neck, Sy... ORPHA:1708
Femoral-Facial Syndrome
Short fifth metatarsal, Toe syndactyly, Hypoplastic acetabulae, Preaxial hand polydactyly, Campto... OMIM:134780
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Clinodactyly, Syndactyly, Brachydactyly, Clinodactyly of the 5th finger, Narrow joint spaces of t... ORPHA:96182
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Camptodactyly of finger ORPHA:2311
Anemia, Congenital Dyserythropoietic, Type Ia
Syndactyly OMIM:224120
Triploidy
Finger syndactyly ORPHA:3376
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Preaxial hand polydactyly, Abnormal hip bone morpholo... ORPHA:261318
Saethre-Chotzen Syndrome
Partial duplication of the distal phalanx of the 3rd finger, Absent first metatarsal, Abnormal pe... OMIM:101400
Orofaciodigital Syndrome Type 1
Cone-shaped epiphysis, Deviation of finger, Finger syndactyly, Short toe, Preaxial hand polydacty... ORPHA:2750
Rapp-Hodgkin Syndrome
2-3 toe cutaneous syndactyly, Palmoplantar keratoderma, Syndactyly OMIM:129400
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Broad thumb, Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly ORPHA:2211
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly ORPHA:887
Autosomal Recessive Faciodigitogenital Syndrome
Finger syndactyly, Down-sloping shoulders, Brachydactyly, Clinodactyly of the 5th finger, Short foot ORPHA:1974
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Aplasia/Hypoplasia involving the shoulder musculature, Unilateral brachydactyly, Syndactyly ORPHA:1521
Lenz-Majewski Hyperostotic Dwarfism
Aplastic clavicle, Finger syndactyly, Abnormal metacarpal morphology, Elbow ankylosis, Brachydact... ORPHA:2658
Eec Syndrome
Toe syndactyly, Finger syndactyly, Ectrodactyly, Aplasia/Hypoplasia of the thumb, Split hand, Pro... ORPHA:1896
Orofaciodigital Syndrome I
Clinodactyly, Radial deviation of finger, Polydactyly, Brachydactyly, Short 2nd toe, Syndactyly OMIM:311200
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Hip dysplasia, Brachydactyly, Syndactyly OMIM:620654
Benign Schwannoma
Allodynia ORPHA:252164
Townes-Brocks Syndrome 1
Broad thumb, Preaxial hand polydactyly, 3-4 toe syndactyly, Pseudoepiphyses of second metacarpal,... OMIM:107480
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Genu varum ORPHA:1969
Monosomy 22
Single transverse palmar crease, Clinodactyly of the 5th finger, Finger syndactyly, Clubbing ORPHA:96123
Bloom Syndrome
Clinodactyly of the 5th finger, Hand polydactyly, Syndactyly OMIM:210900
Fraser Syndrome 3
Cutaneous syndactyly, Short toe OMIM:617667
Cutis Marmorata Telangiectatica Congenita
Toe syndactyly, Short lower limbs, Finger syndactyly, Abnormality of the upper limb ORPHA:1556
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Absent thumb, Finger syndactyly, Clinodactyly, Short thumb, Abnormal thumb morpho... ORPHA:2363
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Ulnar deviation of finger, Clinodactyly, Sandal gap, Radial deviation of finger, Long hallux, Ove... OMIM:618164
Monosomy 13Q14
Aplasia/Hypoplasia of the thumb, Brachydactyly, Finger syndactyly, Clinodactyly of the 5th finger ORPHA:1587
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Symphalangism affecting the phalanges of the hand, Camptodactyly of finger ORPHA:2990
Rubinstein-Taybi Syndrome 1
Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th... OMIM:180849
Acromelic Frontonasal Dysostosis
Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foot polydactyly, Mesomelic... OMIM:603671
Autosomal Dominant Robinow Syndrome
Finger syndactyly, Elbow dislocation, Camptodactyly of finger, Micromelia, Avascular necrosis of ... ORPHA:3107
Smith-Lemli-Opitz Syndrome
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... ORPHA:818
Incontinentia Pigmenti
Deviation of finger, Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent... ORPHA:464
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly... ORPHA:84
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Clinodactyly, Radial deviation of finger, Camptodactyly of finger, Bo... OMIM:249000
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Abnormal hip bone morphology, Abnormal metacarpal mor... ORPHA:2907
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Broad thumb, Toe syndactyly, Finger syndactyly, Short toe, Camptodact... ORPHA:373
Jacobsen Syndrome
Toe clinodactyly, Toe syndactyly, Finger syndactyly, Short toe, Long hallux, Hand polydactyly, Hi... ORPHA:2308
Cranioectodermal Dysplasia 2
Rhizomelia, Clinodactyly, Polydactyly, Brachydactyly, Postaxial hand polydactyly, Mesomelia, Synd... OMIM:613610
Robinow Syndrome
Short distal phalanx of finger, Radioulnar dislocation, Bifid distal phalanx of the thumb, Brachy... ORPHA:97360
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia... OMIM:256520
Vater/Vacterl Association
Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb, Hypoplasia of the ... OMIM:192350
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Bilateral single transverse palmar creases, F... OMIM:216340
Diaphragmatic Hernia 4, With Cardiovascular Defects
2-3 toe syndactyly, Talipes equinovarus, Clinodactyly of the 5th finger, Finger syndactyly OMIM:620025
Dubowitz Syndrome
Clinodactyly of the 5th finger, Single transverse palmar crease, Syndactyly OMIM:223370
Scalp-Ear-Nipple Syndrome
Broad thumb, Finger syndactyly, 2-3 toe syndactyly, Clinodactyly of the 5th finger, 3-4 finger cu... OMIM:181270
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Allodynia OMIM:603041
Orofaciodigital Syndrome Type 4
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micromelia, Preaxial hand polydactyly, Campto... ORPHA:2753
Neurocardiofaciodigital Syndrome
Polydactyly, Syndactyly OMIM:619869
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Clinodactyly of the 5th finger, Palmoplantar keratoderma, Finger syndactyly ORPHA:1071
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Absent distal phalanges, Arachnodactyly, Talipes equinovarus, Post... OMIM:610168
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Broad hallux, Preaxial polydactyly, Radial deviation... OMIM:149730
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Clinodactyly of the 5th finger, Hip dysplasia, Syndactyly OMIM:616975
Kindler Epidermolysis Bullosa
Palmoplantar keratoderma, Finger syndactyly, Camptodactyly of finger, Short 5th metacarpal, Short... ORPHA:2908
Roberts-Sc Phocomelia Syndrome
Finger aplasia, Absent thumb, Clinodactyly, Radial deviation of finger, Elbow flexion contracture... OMIM:268300
Hartsfield Syndrome
Ectrodactyly, Syndactyly OMIM:615465
Degcags Syndrome
Toe syndactyly, Short thumb, Preaxial hand polydactyly, Genu valgum, Polydactyly, Talipes equinov... OMIM:619488
Peters-Plus Syndrome
Rhizomelia, Abnormal pelvic girdle bone morphology, Square pelvis bone, Short toe, Single transve... OMIM:261540
Specc1L-Related Hypertelorism Syndrome
Clinodactyly of the 5th finger, Short toe, Brachydactyly, Finger syndactyly ORPHA:1519
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Broad distal phalanx of finger, Broad thumb, Broad hallux, Abnormal proximal phalanx morphology o... ORPHA:353277
Trichorhinophalangeal Syndrome, Type Ii
2-4 toe syndactyly, Cone-shaped epiphyses of the phalanges of the hand, Avascular necrosis of the... OMIM:150230
Microphthalmia, Syndromic 6
Toe syndactyly, Finger syndactyly, Thumb contracture, Single transverse palmar crease, Polydactyl... OMIM:607932
Fraser Syndrome 2
Cutaneous syndactyly OMIM:617666
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Finger syndactyly, Postaxial polydactyly, Talipes equin... ORPHA:110
Doors Syndrome
Short 5th finger, Short distal phalanx of finger, Sirenomelia, Aplasia/Hypoplasia of the phalange... ORPHA:79500
Hennekam Syndrome
Finger syndactyly, Camptodactyly of finger ORPHA:2136
Fontaine Progeroid Syndrome
Short distal phalanx of finger, Deep palmar crease, Absent distal phalanges, Syndactyly OMIM:612289
Genitourinary And/Or Brain Malformation Syndrome
Syndactyly OMIM:618820
Coffin-Siris Syndrome 12
Slender finger, Broad thumb, Short thumb, Radioulnar synostosis, Cutaneous syndactyly, Hip sublux... OMIM:619325
Proteus Syndrome
Macrodactyly, Finger syndactyly, Abnormality of the wrist, Sirenomelia, Metatarsus valgus, Hallux... ORPHA:744
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Toe clinodactyly, Cutaneous syndactyly, Sandal gap, Long fingers OMIM:620330
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Limb undergrowth, Cutaneous syndactyly ORPHA:2052
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad hallux, Long hallux, Genu valgum, Arachnodactyly, Long toe, Hallux valgus, Adducted thumb, ... ORPHA:261537
Microphthalmia, Syndromic 1
Joint contracture of the hand, Prominent fingertip pads, Clinodactyly, Radial deviation of finger... OMIM:309800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Broad thumb, Polydactyly, Broad first metatarsal, Postaxial polydactyly, Syndactyly OMIM:619534
Mowat-Wilson Syndrome
Broad hallux, Genu valgum, Long toe, Hallux valgus, Syndactyly, Adducted thumb, Ulnar deviation o... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad hallux, Long hallux, Genu valgum, Arachnodactyly, Long toe, Hallux valgus, Adducted thumb, ... ORPHA:261552

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, ES Cells

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