Symbol Name ID |
Gdf5
growth differentiation factor 5 MGI:95688 |
Darker colors indicate more annotations |
Human Phenotypes | Bowing of the long bones |
Radial bowing |
Distal femoral bowing |
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 |
Pseudoepiphysis 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 |
Radial deviation of the 3rd finger |
Ulnar deviation of the 3rd finger |
Short middle phalanx of the 4th finger |
Proximal/middle symphalangism of 4th finger |
Radial deviation of the 4th finger |
Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
Short middle phalanx of the 5th finger |
Proximal/middle symphalangism of 5th finger |
Triangular shaped middle phalanx of the 5th finger |
Clinodactyly of the 5th finger |
Postaxial hand polydactyly |
Abnormal finger flexion crease |
Absent distal interphalangeal creases |
Absent proximal finger flexion creases |
Stippling of the epiphysis of the distal phalanx of the thumb |
Absent distal phalanges |
Short distal phalanx of finger |
Distal symphalangism of hands |
Complete duplication of distal phalanx of the thumb |
Cone-shaped epiphyses of the middle phalanges of the hand |
Thin proximal phalanges with broad epiphyses of the hand |
Aplasia/Hypoplasia of the middle phalanges of the hand |
Short middle phalanx of finger |
Short proximal phalanx of thumb |
Shortening of all middle phalanges of the fingers |
Shortening of all proximal phalanges of the fingers |
Angel-shaped phalanx |
Aplasia/Hypoplasia of the 1st metacarpal |
Short 1st metacarpal |
Short phalanx of finger |
Symphalangism affecting the phalanges of the hand |
Abnormal thumb morphology |
Aplasia/Hypoplasia of the thumb |
Short thumb |
Proportionate shortening of all digits |
Deviation of finger |
Radial deviation of finger |
Ulnar deviation of finger |
Short middle phalanx of the 5th toe |
Proximal/middle symphalangism of 5th toe |
Proximal/middle symphalangism of 4th toe |
Clinodactyly of the 4th toe |
Short proximal phalanx of hallux |
Short hallux |
Broad hallux |
Hallux valgus |
Medially deviated second toe |
Aplasia/Hypoplasia of the middle phalanges of the toes |
Aplasia of the middle phalanges of the toes |
Absent toe |
Short toe |
2-3 toe syndactyly |
Short digit |
Brachydactyly |
Type A2 brachydactyly |
Type C brachydactyly |
Cutaneous finger syndactyly |
Broad metacarpal epiphyses |
Short femur |
Aplasia/Hypoplasia of the fibula |
Fibular aplasia |
Fibular hypoplasia |
Distal tibiofibular synostosis |
Aplasia/Hypoplasia of metatarsal bones |
Short metatarsal |
Flattened metatarsal heads |
Metatarsus valgus |
Abnormal tibia morphology |
Short tibia |
Deformed tarsal bones |
Tarsal synostosis |
Short foot |
Aplasia/Hypoplasia of the patella |
Lower limb undergrowth |
Short lower limbs |
Abnormal morphology of the radius |
Dislocated radial head |
Hypoplasia of the radius |
Humeroradial synostosis |
Abnormal morphology of ulna |
Hypoplasia of the ulna |
Short 2nd metacarpal |
Aplasia/Hypoplasia involving the metacarpal bones |
Short metacarpal |
Cuboidal metacarpal |
Broad metacarpals |
Slender metacarpals |
Short humerus |
Short palm |
Pes planus |
Pes valgus |
Talipes equinovalgus |
Talipes equinovarus |
Bilateral talipes equinovarus |
Acetabular dysplasia |
Hip dislocation |
Congenital hip dislocation |
Abnormality of the ankle |
Patellar dislocation |
Abnormally shaped carpal bones |
Carpal synostosis |
Synostosis of carpal bones |
Malaligned carpal bone |
Finger symphalangism |
Valgus hand deformity |
Single transverse palmar crease |
Bilateral single transverse palmar creases |
Broad palm |
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 A1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
brachydactyly type A1C | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
brachydactyly type A2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
brachydactyly type C | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
developmental dysplasia of the hip 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
fibular hypoplasia and complex brachydactyly | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
multiple synostoses syndrome 1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
multiple synostoses syndrome 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
proximal symphalangism 2 |
Mouse Phenotypes | abnormal limb mesenchyme morphology |
abnormal limb morphology |
abnormal autopod morphology |
brachypodia |
abnormal carpal bone morphology |
fused carpal bones |
abnormal digit morphology |
abnormal phalanx morphology |
brachyphalangia |
fused phalanges |
brachydactyly |
abnormal tarsal bone morphology |
abnormal forelimb morphology |
short humerus |
short radius |
short ulna |
abnormal hindlimb morphology |
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 |
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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 | |||||||||||||||||||||||||||||||||||
Gdf5em1(IMPC)H/Gdf5em1(IMPC)H | |||||||||||||||||||||||||||||||||||
Gdf5Rgsc451/Gdf5Rgsc451 | |||||||||||||||||||||||||||||||||||
Gdf5Bp-5J/Gdf5+ | |||||||||||||||||||||||||||||||||||
Gdf5bp-J/Gdf5+ | |||||||||||||||||||||||||||||||||||
Gdf5Rgsc451/Gdf5+ |
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 05/14/2024 MGI 6.23 |
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