Ehlers-Danlos syndrome progeroid type

Ehlers-Danlos syndrome progeroid type (disorder)

active

Code	`720861000`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20170131

Synonyms

B4GALT7-related spondylodysplastic EDS (Ehlers-Danlos syndrome)
Defective biosynthesis of proteodermatan sulfate
Defective biosynthesis of proteodermatan sulphate
Galactosyltransferase I deficiency
Xylosylprotein 4-beta-galactosyltransferase deficiency

Parents (4)

85995004Autosomal recessive hereditary disorder disorder
254120004Dysplasia with increased bone density disorder
399959003Premature ageing syndrome disorder
1251488008Spondylodysplastic Ehlers-Danlos syndrome disorder

Children (0)

None (leaf concept).