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ONTOLOGY REPORT - ANNOTATIONS


Term:Keratosis Palmoplantaris with Periodontopathia and Onychogryposis
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Accession:DOID:9001957 term browser browse the term
Synonyms:exact_synonym: Cochin Jewish disorder;   HMS;   Haim-Munk syndrome
 primary_id: MESH:C537627;   RDO:0003499
 alt_id: OMIM:245010
For additional species annotation, visit the Alliance of Genome Resources.


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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 15553
    syndrome 5224
      ectodermal dysplasia 252
        Papillon-Lefevre disease 1
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          monogenic disease 4788
            autosomal genetic disease 3768
              autosomal dominant disease 2310
                ectodermal dysplasia 252
                  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.