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ONTOLOGY REPORT - ANNOTATIONS


Term:Papillon-Lefevre disease
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Accession:DOID:3389 term browser browse the term
Definition:Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.
Synonyms:exact_synonym: Haim Monk Syndrome;   Keratosis Palmoplantar Periodontopathies;   Keratosis Palmoplantar Periodontopathy;   Keratosis Palmoplantaris with Periodontopathia;   PALS;   PLS;   Papillon Lefevre Syndrome;   Papillon-Lefvre syndrome
 primary_id: MESH:D010214
 alt_id: OMIM:245000;   RDO:0001616
 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 JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:1599638
RGD:8554872
RGD:11554173
RGD:7240710
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsc cathepsin C JBrowse link 1 151,918,514 151,949,979 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    syndrome 5218
      ectodermal dysplasia 251
        Papillon-Lefevre disease 1
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        sensory system disease 4697
          skin disease 2472
            keratosis 127
              palmoplantar keratosis 28
                Papillon-Lefevre disease 1
                  Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.