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Entry Name Description Category Pathway Gene
H00122 Multiple exostoses Hereditary multiple exostoses syndrome is the most frequent glycosylation defect, which is characterized by benign osteochondromas on the ends of long bones. Inherited metabolic disorder (EXT1) EXT1 [HSA:2131] [KO:K02366]
(EXT2) EXT2 [HSA:2132] [KO:K02367]
H00493 Heparan sulfate proteoglycan gene defects Defects in heparan sulfate proteoglycans (HSPGs), which present in cartilage, are associated with skeletal growth disorders. Mutations in either HS biosynthetic enzymes or HS proteoglycan core proteins ... Congenital malformation (DDSH/SJS1) HSPG2 [HSA:3339] [KO:K06255]
(SGBS1) GPC3 [HSA:2719] [KO:K08109]
(OMOD1) GPC6 [HSA:10082] [KO:K08112]
(EXT1) EXT1 [HSA:2131] [KO:K02366]
(EXT2) EXT2 [HSA:2132] [KO:K02367]
H00977 Trichorhinophalangeal syndrome Trichorhinophalangeal syndromes (TRPS) is a rare peripheral dysostosis with mainly autosomal dominant inheritance. Three different forms of TRPS are known: type I (TRPS1), type II (TRPS2) and type III ... Congenital malformation (TRPS1_2_3) TRPS1 [HSA:7227] [KO:K22040]
(TRPS2) EXT1 [HSA:2131] [KO:K02366]
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