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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00607 | 46,XY gonadal dysgenesis | Gonadal dysgenesis (GD) is a disorder of sex development. Formerly, 46,XY GD was also known as 46,XY sex reversal (SRXY). In 46,XY GD, the gonadal histology can range from fibrous streak gonads to partial ... | 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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| H01598 |
Addison disease Primary adrenal insufficiency Hypoadrenocorticism |
Primary adrenocortical insufficiency, also known as Addison disease, is a rare but fatal endocrine disorder characterized by the progressive destruction of the adrenal cortex, resulting in insufficient ... | Endocrine and metabolic disease | NR0B1 [HSA:190] [KO:K08562] | |
| H01772 |
Adrenal hypoplasia, congenital X-linked addison disease |
... association with hypogonadotropic hypogonadism (HHG). Affected males typically have delayed puberty or arrested puberty caused by HHG. Mutations in the DAX-1 (NR0B1) gene are responsible for X-linked AHC. | Endocrine and metabolic disease | NR0B1 [HSA:190] [KO:K08562] |
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