Symbol
Name
ID

Gdf5
growth differentiation factor 5
MGI:95688

Phenotype annotations related to limbs/digits/tail

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

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

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

Availability

Mouse Genotype

Gdf5^bp-3J/Gdf5^bp-3J

Gdf5^bp-4J/Gdf5^bp-4J

Gdf5^bp-6J/Gdf5^bp-6J

Gdf5^bp-H/Gdf5^bp-H

Gdf5^bp-J/Gdf5^bp-J

Gdf5^bp/Gdf5^bp

Gdf5^brp/Gdf5^brp

Gdf5^em1(IMPC)H/Gdf5^em1(IMPC)H

Gdf5^Rgsc451/Gdf5^Rgsc451

Gdf5^Bp-5J/Gdf5⁺

Gdf5^bp-J/Gdf5⁺

Gdf5^Rgsc451/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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