| Metadata | |
|---|---|
| ID | DOID:0111244 |
| Name | palmoplantar keratoderma and congenital alopecia 1 |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/20635335, https://www.ncbi.nlm.nih.gov/pubmed/25168385 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant palmoplantar hyperkeratosis and congenital alopecia [EXACT] autosomal dominant palmoplantar keratoderma and congenital alopecia [EXACT] keratoderma-hypotrichosis-leukonychia totalis syndrome [EXACT] palmoplantar keratoderma and congenital alopecia, Stevanovic type [EXACT] PPK-CA, Stevanovic type [EXACT] PPKCA Stevanovic type [EXACT] PPKCA1 [EXACT] |
| Parent Relationships |
is_a ectodermal dysplasia is_a physical disorder |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |