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Entry Name Description Category Pathway Gene
H00482 Brachydactyly Brachydactyly (BD) comprises hereditary limb malformations characterized by apparent shortening of digits. Bone dysostosis is seen in middle phalanges in type A; distal phalanges in type B; distal phalanx ... Congenital malformation hsa04340 Hedgehog signaling pathway
hsa04350 TGF-beta signaling pathway
(BDA1) IHH [HSA:3549] [KO:K11989]
(BDA1C, BDA2, BDC) GDF5 [HSA:8200] [KO:K04664]
(BDA2) BMPR1B [HSA:658] [KO:K13578]
(BDA2) BMP2 [HSA:650] [KO:K21283]
(BDB1) ROR2 [HSA:4920] [KO:K05123]
(BDB2) NOG [HSA:9241] [KO:K04658]
(BDD, BDE1) HOXD13 [HSA:3239] [KO:K09298]
(BDE2) PTHLH [HSA:5744] [KO:K22608]
(with hypertension) PDE3A [HSA:5139] [KO:K19021]
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