Spondylometaphyseal dysplasia

Disease Term Disease ID Gene Symbol References
Spondylometaphyseal dysplasia, axial C1865695 CFAP410 28422394, 27548899, 23105016, 26974433, 26167768
Spondylometaphyseal dysplasia, `corner fracture` type C0432221, 93315 COL2A1 17163530
FN1 29100092, 30599297
Spondylometaphyseal dysplasia, Algerian type C1866688 COL2A1 23653587
Spondylometaphyseal dysplasia, Sedaghatian type C1855229, 93317 GPX4 24706940
Spastic paraplegia 13, autosomal dominant C1854467 HSPD1 11898127, 1189812, 27604308, 18571143
Spastic paraplegia 10, autosomal dominant C1858712 KIF5A 29566793, 15452312, 12355402, 21623771, 18245137, 16476820, 16489470, 25352184, 18203753, 21107874, 18853458, 29903433
SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE C1849011 DDR2 20223752, 26463668, 8434618, 19110212
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder) C1858106 RTN2 22232211, 28362824
PPM1N
Spastic paraplegia 15, autosomal recessive C1849128 ZFYVE26 27217339, 26633545, 18394578, 19805727, 23733235, 24833714, 25497598, 25525159, 19917823, 25842392, 24357685, 27544497, 17661097
SPASTIC PARAPLEGIA 23 (disorder) C0796019 DSTYK 28157540
Spondylometaphyseal dysplasia, Kozlowski type C0265280, 93314 TRPV4 20577006, 19232556, 22702953
Autosomal recessive spondylometaphyseal dysplasia, M garban type 401979 PAM16
Spondylometaphyseal dysplasia, Schmidt type 93316 COL2A1