Metadata | |
---|---|
ID | DOID:3389 |
Name | Papillon-Lefevre disease |
Definition | An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507741/ |
Xrefs |
SNOMEDCT_US_2023_03_01:40158001 |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Papillon Lefevre syndrome [EXACT] Papillon-Lefvre syndrome [EXACT] |
Parent Relationships |
is_a ectodermal dysplasia is_a tooth disease |