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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: Papillon-Lefèvre syndrome
ClinVar Annotator: match by term: Papillon-Lefevre Disease
ClinVar Annotator: match by OMIM:245000
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
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 ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Haim-Munk syndrome
OMIM
ClinVar
CTD
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      ectodermal dysplasia 385
        Papillon-Lefevre disease 1
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        sensory system disease 5611
          skin disease 2954
            keratosis 141
              palmoplantar keratosis 32
                Papillon-Lefevre disease 1
                  Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
paths to the root