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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00598 | 46,XX testicular disorder of sex development | 46,XX disorder of sex development (46,XX DSD) is a condition in which the individual shows ambiguous genitalia with a 46,XX karyotype. Formerly, 46,XX DSD was also known as XX sex reversal (SRXX) or female ... | Reproductive system disease |
(SRXX1) SRY [HSA:6736] [KO:K09266] (SRXX3) SOX3 [HSA:6658] [KO:K09267] (SRXX4) NR5A1 [HSA:2516] [KO:K08560] (SRXX5) NR2F2 [HSA:7026] [KO:K08548] |
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| H02199 | Congenital heart defects, multiple type | Congenital heart defects (CHTD) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. It is generally understood ... | Congenital malformation |
(CHTD1) ZIC3 [HSA:7547] [KO:K18487] (CHTD2) TAB2 [HSA:23118] [KO:K04404] (CHTD4) NR2F2 [HSA:7026] [KO:K08548] (CHTD5) GATA5 [HSA:140628] [KO:K17896] (CHTD6) GDF1 [HSA:2657] [KO:K05495] (CHTD7) FLT4 [HSA:2324] [KO:K05097] (CHTD8) SMAD2 [HSA:4087] [KO:K04500] (CHTD9) PLXND1 [HSA:23129] [KO:K06822] |
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