Papillon-Lefevre disease

Papillon-Lefevre disease

http://purl.obolibrary.org/obo/DOID_3389

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. [ http://purl.obolibrary.org/obo/ECO_0007638 url:https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome url:https://www.ncbi.nlm.nih.gov/articles/PMC4507741/ http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: Papillon Lefevre syndrome Papillon-Lefvre syndrome

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This is just here as a test because I lose it

Term information

database cross reference

ORDO:678
MESH:D010214
NCI:C84992
MIM:245000
UMLS_CUI:C0030360
GARD:3100
SNOMEDCT_US_2023_03_01:40158001

Subsets

DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

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disease_ontology

DOID:3389

Term relations

Subclass of:

tooth disease
autosomal recessive disease
ectodermal dysplasia
has material basis in some autosomal recessive inheritance
disease has location some calcareous tooth