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Papillon-Lefevre disease - Ontology Report - Rat Genome Database

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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: MIM:245000
 xref: GARD:3100;   NCI:C84992;   ORDO:678
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

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Papillon-Lefevre disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ctsc cathepsin C ISO 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 OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chrNW_004624845:1,783,807...1,816,471
Ensembl chrNW_004624845:1,783,918...1,815,981 		JBrowse link
G G CTSC cathepsin C ISO 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 OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chr 1:79,426,556...79,468,464
Ensembl chr 1:79,426,549...79,468,340 		JBrowse link
G P CTSC cathepsin C ISO 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 OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516 		JBrowse link
G S Ctsc cathepsin C ISO 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 OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chrNW_004936736:1,201,343...1,240,311 JBrowse link
G D CTSC cathepsin C ISO 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 OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816 		JBrowse link
G B CTSC cathepsin C ISO 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 OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847 		JBrowse link
G C Ctsc cathepsin C ISO 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 OMIM
ClinVar		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... NCBI chrNW_004955414:5,062,355...5,092,631
Ensembl chrNW_004955414:5,062,355...5,092,154 		JBrowse link
G R 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 1:151,440,860...151,472,430
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
G M 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 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
G H CTSC cathepsin C IAGP
EXP		 DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
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 chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G H LOC130006572 ATAC-STARR-seq lymphoblastoid active region 5382 IAGP ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome		 ClinVar PMID:10662808 PMID:11106356 PMID:11180012 PMID:11886537 PMID:12112662 More... NCBI chr11:88,337,452...88,337,731 JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chrNW_004624845:1,783,807...1,816,471
Ensembl chrNW_004624845:1,783,918...1,815,981 		JBrowse link
G G CTSC cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 1:79,426,556...79,468,464
Ensembl chr 1:79,426,549...79,468,340 		JBrowse link
G P CTSC cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 9:21,726,628...21,761,796
Ensembl chr 9:21,722,036...21,761,516 		JBrowse link
G S Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chrNW_004936736:1,201,343...1,240,311 JBrowse link
G D CTSC cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr21:11,659,296...11,692,957
Ensembl chr21:11,659,292...11,692,816 		JBrowse link
G B CTSC cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr11:83,299,827...83,345,383
Ensembl chr11:86,890,010...86,933,847 		JBrowse link
G C Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome OMIM
ClinVar		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chrNW_004955414:5,062,355...5,092,631
Ensembl chrNW_004955414:5,062,355...5,092,154 		JBrowse link
G R Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 1:151,440,860...151,472,430
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
G M Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 7:87,927,233...87,960,083
Ensembl chr 7:87,927,293...87,960,096 		JBrowse link
G H CTSC cathepsin C IAGP
EXP		 ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684 		JBrowse link
G N Grm5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004624845:1,064,866...1,631,722
Ensembl chrNW_004624845:1,079,564...1,627,880 		JBrowse link
G G GRM5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:79,636,636...80,206,471 JBrowse link
G P GRM5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 9:21,914,422...22,438,200
Ensembl chr 9:21,917,735...22,436,063 		JBrowse link
G S Grm5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004936736:623,118...1,060,273
Ensembl chrNW_004936736:623,013...1,064,054 		JBrowse link
G D GRM5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr21:10,980,186...11,496,539
Ensembl chr21:10,996,075...11,493,290 		JBrowse link
G B GRM5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:83,514,978...84,077,650
Ensembl chr11:87,107,788...87,868,953 		JBrowse link
G C Grm5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004955414:4,424,245...4,919,399 JBrowse link
G R Grm5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:150,722,711...151,297,585
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G M Grm5 glutamate receptor, metabotropic 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 7:87,233,212...87,784,271
Ensembl chr 7:87,233,376...87,784,115 		JBrowse link
G H GRM5 glutamate metabotropic receptor 5 IAGP ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:88,504,642...89,065,982
Ensembl chr11:88,504,576...89,065,982 		JBrowse link
G H LOC130006572 ATAC-STARR-seq lymphoblastoid active region 5382 IAGP ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:10662808 PMID:11106356 PMID:11180012 PMID:11886537 PMID:12112662 More... NCBI chr11:88,337,452...88,337,731 JBrowse link
G N Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004624845:844,492...933,098
Ensembl chrNW_004624845:844,293...933,098 		JBrowse link
G G TYR tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:80,330,051...80,444,646 JBrowse link
G P TYR tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
G S Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004936736:421,623...519,085
Ensembl chrNW_004936736:421,598...519,253 		JBrowse link
G D TYR tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr21:10,799,940...10,894,187
Ensembl chr21:10,799,940...10,894,191 		JBrowse link
G B TYR tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
G C Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chrNW_004955414:4,244,035...4,314,001
Ensembl chrNW_004955414:4,244,035...4,314,001 		JBrowse link
G R Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:150,527,687...150,622,857
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
G M Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 7:87,073,979...87,142,637
Ensembl chr 7:87,073,979...87,142,720 		JBrowse link
G H TYR tyrosinase IAGP ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr11:89,177,875...89,295,759
Ensembl chr11:89,177,875...89,295,759 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      ectodermal dysplasia 5563
        Papillon-Lefevre disease 31
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 31
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            mouth disease 12160
              tooth disease 5361
                periodontal disease 1515
                  Papillon-Lefevre disease 31
                    Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 31
paths to the root