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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]
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