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Symbol
Name
ID
Gdf5
growth differentiation factor 5
MGI:95688
Phenotype annotations related to limbs/digits/tail
Darker colors indicate more annotations
Human Phenotypes
Enlarged epiphysis of the middle phalanx of the 2nd finger
Triangular epiphysis of the middle phalanx of the 2nd finger
Enlarged epiphysis of the proximal phalanx of the 2nd finger
Triangular epiphysis of the proximal phalanx of the 2nd finger
Pseudoepiphyses of the 2nd finger
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger
Triangular shaped middle phalanx of the 2nd finger
Hypersegmentation of proximal phalanx of second finger
Triangular shaped proximal phalanx of the 2nd finger
Short 2nd finger
Radial deviation of the 2nd finger
Ulnar deviation of the 2nd finger
Enlarged epiphysis of the middle phalanx of the 3rd finger
Triangular epiphysis of the middle phalanx of the 3rd finger
Short middle phalanx of the 3rd finger
Triangular shaped middle phalanx of the 3rd finger
Enlarged epiphysis of the proximal phalanx of the 3rd finger
Triangular epiphysis of the proximal phalanx of the 3rd finger
Hypersegmentation of proximal phalanx of third finger
Triangular shaped proximal phalanx of the 3rd finger
Pseudoepiphyses of the 3rd finger
Short 3rd finger
Ulnar deviation of the 3rd finger
Short middle phalanx of the 4th finger
Aplasia/Hypoplasia of the middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
Triangular shaped middle phalanx of the 5th finger
Clinodactyly of the 5th finger
Postaxial hand polydactyly
Absent distal interphalangeal creases
Stippling of the epiphysis of the distal phalanx of the thumb
Absent distal phalanges
Short distal phalanx of finger
Complete duplication of distal phalanx of the thumb
Cone-shaped epiphyses of the middle phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand
Short middle phalanx of finger
Shortening of all middle phalanges of the fingers
Limited interphalangeal movement
Shortening of all proximal phalanges of the fingers
Aplasia/Hypoplasia of the 1st metacarpal
Short 1st metacarpal
Short phalanx of finger
Broad thumb
Symphalangism affecting the phalanges of the hand
Fusion of midphalangeal joints
Proximal symphalangism of hands
Abnormal thumb morphology
Aplasia/Hypoplasia of the thumb
Short thumb
Deviation of finger
Radial deviation of finger
Ulnar deviation of finger
Medially deviated second toe
Short hallux
Broad hallux
Hallux valgus
Hallux varus
Aplasia of the middle phalanges of the toes
Absent toe
Short toe
2-3 toe syndactyly
Cutaneous syndactyly of toes
Clinodactyly
Polydactyly
Short digit
Brachydactyly
Type A2 brachydactyly
Type C brachydactyly
Cutaneous finger syndactyly
Aplasia/Hypoplasia of metatarsal bones
Short metatarsal
Metatarsal synostosis
Metatarsus valgus
Short femur
Distal femoral bowing
Aplasia/Hypoplasia of the fibula
Fibular aplasia
Fibular hypoplasia
Deformed tarsal bones
Tarsal synostosis
Abnormality of tibia morphology
Short tibia
Short foot
Aplasia/Hypoplasia of the patella
Lower limb undergrowth
Short lower limbs
Radial bowing
Hypoplasia of the radius
Hypoplasia of the ulna
Abnormality of the radius
Dislocated radial head
Humeroradial synostosis
Abnormality of the ulna
Short humerus
Aplasia/Hypoplasia involving the metacarpal bones
Short 2nd metacarpal
Short metacarpal
Cuboidal metacarpal
Metacarpal synostosis
Bowing of the long bones
Abnormality of the ankles
Hip dislocation
Patellar dislocation
Pes valgus
Talipes equinovalgus
Talipes equinovarus
Bilateral talipes equinovarus
Valgus hand deformity
Abnormally shaped carpal bones
Carpal synostosis
Synostosis of carpal bones
Malaligned carpal bone
Single transverse palmar crease
Bilateral single transverse palmar creases
Finger symphalangism
Cubitus valgus
Elbow dislocation
Madelung deformity
Acromesomelia
Micromelia
Rhizomelia
Disease(s) Associated with GDF5
acromesomelic dysplasia, Grebe type
acromesomelic dysplasia, Hunter-Thompson type
brachydactyly type A1C
brachydactyly type A2
brachydactyly type C
fibular hypoplasia and complex brachydactyly
multiple synostoses syndrome

Mouse Phenotypes
abnormal limb mesenchyme morphology
abnormal limb morphology
abnormal autopod morphology
abnormal carpal bone morphology
fused carpal bones
abnormal digit morphology
abnormal phalanx morphology
brachyphalangia
fused phalanges
brachydactyly
abnormal tarsal bone morphology
brachypodia
short humerus
short radius
short ulna
abnormal femur morphology
short femur
abnormal fibula morphology
short fibula
abnormal tibia morphology
short tibia
abnormal patella morphology
abnormal limb bone morphology
abnormal limb long bone morphology
abnormal metacarpal bone morphology
short metacarpal bones
abnormal metatarsal bone morphology
short metatarsal bones
abnormal limb development
abnormal digit development
short limbs
micromelia
Availability Mouse Genotype
Gdf5bp-3J/Gdf5bp-3J
Gdf5bp-4J/Gdf5bp-4J
Gdf5bp-6J/Gdf5bp-6J
Gdf5bp-H/Gdf5bp-H
Gdf5bp-J/Gdf5bp-J
Gdf5bp/Gdf5bp
Gdf5brp/Gdf5brp
Gdf5Rgsc451/Gdf5Rgsc451
Gdf5Bp-5J/Gdf5+
Gdf5bp-J/Gdf5+
Gdf5Rgsc451/Gdf5+

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
02/11/2020
MGI 6.14
The Jackson Laboratory