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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00639 |
Ectodermal dysplasia, ectrodactyly, and macular dystrophy EEM syndrome |
... macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis with sparse and short scalp hair, eyebrows ... | Congenital malformation | CDH3 [HSA:1001] [KO:K06796] | |
| H00785 | Congenital hypotrichosis with juvenile macular dystrophy | ... scalp hair from birth and resulting hair loss associated with progressive macular degeneration leading to blindness not later than the third decade of life. The causative gene is CDH3 encoding P-cadherin. | Congenital malformation | CDH3 [HSA:1001] [KO:K06796] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |