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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

GARD:3100

MESH:D010214

NCI:C84992

OMIM:245000

ORDO:678

SNOMEDCT_US_2020_09_01:40158001

UMLS_CUI:C0030360

Subsets

NCIthesaurus

Synonyms

Papillon Lefevre syndrome [EXACT]

Papillon-Lefvre syndrome [EXACT]

Parent Relationships

is_a ectodermal dysplasia

is_a tooth disease

is_a autosomal recessive disease

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