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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00442 | Campomelic dysplasia | ... congenital skeletal dysplasia characterized by bowing of the long bones (campomelia). It is often associated with male-to-female autosomal sex reversal. Haploinsufficiency of SOX9 gene has been reported. | Congenital malformation | SOX9 [HSA:6662] [KO:K18435] | |
| H00607 | 46,XY gonadal dysgenesis | ... undervirilized male. Mutations involving the testis-determining gene SRY, and other genes involved in sex determination, such as the genes WT1, DHH, NR5A1, SOX9, FOG2/ZFPM2 and MAP3K1 have been identified. | Reproductive system disease |
(SRXY1) SRY [HSA:6736] [KO:K09266] (SRXY2) NR0B1 [HSA:190] [KO:K08562] (SRXY3) NR5A1 [HSA:2516] [KO:K08560] (SRXY5) CBX2 [HSA:84733] [KO:K11451] (SRXY6) MAP3K1 [HSA:4214] [KO:K04416] (SRXY7) DHH [HSA:50846] [KO:K11990] (SRXY8) AKR1C2 [HSA:1646] [KO:K00089] (SRXY8) AKR1C4 [HSA:1109] [KO:K00037] (SRXY9) ZFPM2 [HSA:23414] [KO:K17442] (SRXY11) DHX37 [HSA:57647] [KO:K14780] (FS/DDS) WT1 [HSA:7490] [KO:K09234] |
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