Ehlers-Danlos syndrome, spondylodysplastic type, 2
Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene.
MONDO:0007526
Ehlers-Danlos syndrome, spondylodysplastic type
is_a
MONDO:0100586
B3GALT6-congenital disorder of glycosylation
is_a
B3GALT6 Ehlers-Danlos syndrome progeroid type
exact
B3GALT6-related spEDS
exact
B3GALT6-related spondylodysplastic EDS
exact
Beta3GalT6-deficient EDS
exact
EDSP2
exact
EDSSPD2
exact
Ehlers-Danlos syndrome progeroid type 2
exact
Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6
exact
Ehlers-Danlos syndrome, progeroid type, 2
exact
Ehlers-Danlos syndrome, spondylodysplastic type, 2
exact
spEDS-B3GALT6
exact
SPBC1921.06c