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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H00479 | Metaphyseal dysplasias | Metaphyseal dysplasias are very rare skeletal disorders with short limb/short stature phenotypes. Defects in metaphyseal development leads to enlarged metaphyses of long bones that tend to fracture in ... | Congenital malformation |
(MCDS) COL10A1 [HSA:1300] [KO:K19479] (CHH) RMRP [HSA:6023] [KO:K14576] (MCDJ) PTH1R [HSA:5745] [KO:K04585] (PYL) SFRP4 [HSA:6424] [KO:K02185] (MANDP1) MMP13 [HSA:4322] [KO:K07994] (MANDP2) MMP9 [HSA:4318] [KO:K01403] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |