spondyloepiphyseal dysplasia with metatarsal shortening
A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies.
MONDO:0022800
type 2 collagenopathy
is_a
MONDO:0100602
COL2A1-related spondyloepiphyseal dysplasia
is_a
Czech dysplasia
exact
Czech dysplasia metatarsal type
exact
Czech dysplasia, metatarsal type
exact
SED with metatarsal shortening
exact
pseudorheumatoid dysplasia progressive, with hypoplastic toes
related
pseudorheumatoid dysplasia, progressive, with hypoplastic toes
exact
spondyloepiphyseal dysplasia with precocious osteoarthritis
exact