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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01734 | Rothmund-Thomson syndrome | ... short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts. Mutations in ANAPC1, encoding a subunit of the anaphase-promoting complex, cause RTS1. RTS type 2, which is defined ... | Congenital malformation |
(RTS1) ANAPC1 [HSA:64682] [KO:K03348] (RTS2) RECQL4 [HSA:9401] [KO:K10730] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |