| Metadata | |
|---|---|
| ID | DOID:0111342 |
| Name | dermatopathia pigmentosa reticularis |
| Definition | An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. https://www.ncbi.nlm.nih.gov/pubmed/1303619, https://www.ncbi.nlm.nih.gov/pubmed/16960809 |
| Xrefs |
SNOMEDCT_US_2023_03_01:239088003 |
| Subsets |
DO_rare_slim |
| Synonyms |
DPR [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |