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Entry Name Description Category Pathway Gene
H00485 Robinow syndrome Robinow syndrome (RS) is a rare genetically heterogeneous condition characterized by hypertelorism, nasal features (large nasal bridge, short upturned nose, and anteverted nares), midface hypoplasia, mesomelic ... Congenital malformation hsa04310 Wnt signaling pathway (RRS) ROR2 [HSA:4920] [KO:K05123]
(DRS1) WNT5A [HSA:7474] [KO:K00444]
(DRS2) DVL1 [HSA:1855] [KO:K02353]
(DRS3) DVL3 [HSA:1857] [KO:K02353]
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