| 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/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 tooth disease is_a ectodermal dysplasia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance disease has location some calcareous tooth |