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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00886 |
Donnai-Barrow syndrome Faciooculoacousticorenal syndrome |
... ophthalmological abnormalities (high myopia, iris stromal hypoplasia), severe sensorineural deafness, congenital diaphragmatic hernia, and proteinuria. The diagnosis is confirmed by detection of mutations in LRP2. | Congenital malformation | LRP2 [HSA:4036] [KO:K06233] | |
| H01241 | Congenital diaphragmatic hernia | Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially ... | Congenital malformation |
(DIH3) ZFPM2 [HSA:23414] [KO:K17442] (DIH4) ALDH1A2 [HSA:8854] [KO:K07249] (DIH5) PLS3 [HSA:5358] [KO:K17336] |
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| H02488 | Cardiac-urogenital syndrome | Cardiac-urogenital syndrome (CUGS) is characterized by congenital diaphragmatic hernia, congenital heart disease and genitourinary abnormalities. Mutations in MYRF have been identified in patients. MYRF ... | Congenital malformation | MYRF [HSA:745] [KO:K24768] |
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