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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| 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] |
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| H02154 | Omodysplasia | ... craniofacial dysmorphism, and variable developmental delay. It is caused by mutations in glypican 6 (GPC6). An autosomal dominant form (OMOD2) involving only the upper limbs was later recognized as a separate ... | Congenital malformation |
(OMOD1) GPC6 [HSA:10082] [KO:K08112] (OMOD2) FZD2 [HSA:2535] [KO:K02235] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |