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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00599 |
Ovarian dysgenesis 46,XX gonadal dysgenesis |
Ovarian dysgenesis (ODG), also known as 46,XX gonadal dysgenesis, is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia ... | Reproductive system disease |
(ODG1) FSHR [HSA:2492] [KO:K04247] (ODG2) BMP15 [HSA:9210] [KO:K05498] (ODG3) PSMC3IP [HSA:29893] [KO:K06695] (ODG4) MCM9 [HSA:254394] [KO:K10738] (ODG5) SOHLH1 [HSA:402381] [KO:K22495] (ODG6) NUP107 [HSA:57122] [KO:K14301] (ODG7) MRPS22 [HSA:56945] [KO:K17401] (ODG8) ESR2 [HSA:2100] [KO:K08551] (ODG9) SPIDR [HSA:23514] [KO:K22806] (ODG10) ZSWIM7 [HSA:125150] [KO:K25770] |
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| H02634 | Deafness, cataract, impaired intellectual development, and polyneuropathy | ... recessive syndrome with varying degrees of neurosensorial dysfunctions. DCIDP is caused by mutations in PSMC3 gene, encoding the proteasome ATPase subunit Rpt5. The proteasome is a multiprotein complex involved ... | Nervous system disease | PSMC3 [HSA:5702] [KO:K03065] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |