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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 |
(BDA1) IHH [HSA:3549] [KO:K11989] (BDA1C, BDA2, BDC) GDF5 [HSA:8200] [KO:K04664] (BDA1D, 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] (HTNB) PDE3A [HSA:5139] [KO:K19021] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |