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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00852 | Klippel-Feil syndrome | ... anomalies are often associated. It has been reported that KFS is caused by mutations in the GDF6 or GDF3 genes in an autosomal dominant manner. KFS is also inherited in an autosomal recessive manner. Recently ... | Congenital malformation |
(KFS1) GDF6 [HSA:392255] [KO:K20012] (KFS2) MEOX1 [HSA:4222] [KO:K09322] (KFS3) GDF3 [HSA:9573] [KO:K22672] (KFS4) MYO18B [HSA:84700] [KO:K10362] |
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| H01027 | Microphthalmia | Anophthalmia and/or microphthalmia (A/M) can be defined as an absence or reduced size of the globe in the orbit. Anophthalmia refers to complete absence of the globe in the presence of ocular adnexae. ... | Congenital malformation |
(MCOP2/MCOPCB3) VSX2 [HSA:338917] [KO:K09336] (MCOP4/MCOPCB6) GDF6 [HSA:392255] [KO:K20012] (MCOP5) MFRP [HSA:83552] [KO:K24359] (MCOP6) PRSS56 [HSA:646960] [KO:K23440] (MCOP7/MCOPCB6) GDF3 [HSA:9573] [KO:K22672] (MCOP8) ALDH1A3 [HSA:220] [KO:K07249] (MCOPCB5) SHH [HSA:6469] [KO:K11988] (MCOPCB7) ABCB6 [HSA:10058] [KO:K05661] (MCOPCB8) STRA6 [HSA:64220] [KO:K23088] (MCOPCB9) TENM3 [HSA:55714] [KO:K24473] (MCOPCB10) RBP4 [HSA:5950] [KO:K18271] (MCOPCB11) FZD5 [HSA:7855] [KO:K02375] |
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