Ehlers-Danlos syndrome, spondylodysplastic type, 1
MONDO:0007526
Ehlers-Danlos syndrome, spondylodysplastic type
is_a
MONDO:0800064
osteogenesis imperfecta and a reduction of bone mineral density.
is_a
EDSSPD1
exact
Ehlers-Danlos syndrome with Short stature and Limb anomalies
exact
Ehlers-Danlos syndrome, progeroid type 1
exact
Ehlers-Danlos syndrome, progeroid type, 1
exact
Ehlers-Danlos syndrome, spondylodysplastic type, 1
exact
PDS, defective biosynthesis of
exact
XGPT deficiency
exact
dermatan sulfate proteoglycan
exact
dermatan sulphate proteoglycan
exact
galactosyltransferase 1 deficiency
exact
proteodermatan sulfate, defective biosynthesis of
exact
xylosylprotein 4-Beta-galactosyltransferase deficiency
exact