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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| 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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| H02172 | Nanophthalmos | Nanophthalmos is a disorder characterized by phenotypically small but structurally normal eyes. Nanophthalmos may present as a sporadic or familial disorder, with autosomal-dominant or recessive inheritance ... | Congenital malformation |
(NNO2) MFRP [HSA:83552] [KO:K24359] (NNO4) TMEM98 [HSA:26022] [KO:K25292] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |