linkeropathy
Group of rare heritable connective tissue disorders, characterized by a variable degree of short stature, skeletal dysplasia, joint laxity, cutaneous anomalies, dysmorphism, heart malformation, and developmental delay. The LK genes encode for enzymes that add glycosaminoglycan chains onto proteoglycans via a common tetrasaccharide linker region.
MONDO:0002254
syndromic disease
is_a
MONDO:0005516
osteochondrodysplasia
is_a
MONDO:0023603
hereditary disorder of connective tissue
is_a