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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Papillon-Lefevre disease
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Accession:DOID:3389 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Haim Monk Syndrome;   PALS;   PLS;   Papillon Lefevre syndrome;   Papillon-Lefvre syndrome;   Papillon-Lefèvre syndrome;   keratosis palmoplantar periodontopathies;   keratosis palmoplantar periodontopathy;   keratosis palmoplantaris with periodontopathia;   palmoplantar keratoderma with periodontitis
 primary_id: MESH:D010214
 alt_id: OMIM:245000
 xref: GARD:3100;   NCI:C84992;   ORDO:678
For additional species annotation, visit the Alliance of Genome Resources.


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Papillon-Lefevre disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... RGD:1599638 NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Haim-Munk syndrome		 OMIM
CTD
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      ectodermal dysplasia 542
        Papillon-Lefevre disease 3
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 3
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            mouth disease 1019
              tooth disease 446
                periodontal disease 135
                  Papillon-Lefevre disease 3
                    Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 3
paths to the root