5 Parents
| Identifier | Name | Description |
|---|---|---|
| DOID:4 | disease | A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. |
| DOID:225 | syndrome | A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. |
| DOID:0080015 | physical disorder | A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. |
| DOID:2121 | ectodermal dysplasia | A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. |
| DOID:0111244 | palmoplantar keratoderma and congenital alopecia 1 | An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. |
4 Relations
| Relationship |
Parent Term . Identifier |
Child Term . Identifier |
|---|---|---|
| is_a | DOID:0080015 | DOID:0111244 |
| is_a | DOID:2121 | DOID:0111244 |
| is_a | DOID:225 | DOID:0111244 |
| is_a | DOID:4 | DOID:0111244 |
7 Synonyms
| Name | Type |
|---|---|
| PPKCA1 | synonym |
| autosomal dominant palmoplantar hyperkeratosis and congenital alopecia | synonym |
| autosomal dominant palmoplantar keratoderma and congenital alopecia | synonym |
| keratoderma-hypotrichosis-leukonychia totalis syndrome | synonym |
| palmoplantar keratoderma and congenital alopecia, Stevanovic type | synonym |
| PPK-CA, Stevanovic type | synonym |
| PPKCA Stevanovic type | synonym |
