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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: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 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 PMID:11180012 PMID:11180601 PMID:11886537 PMID:12112662 PMID:14974080 PMID:17576681 PMID:18809751 PMID:18945301 PMID:23311634 PMID:24033266 PMID:24936511 PMID:25741868 PMID:28242153 PMID:28492532 PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    syndrome 7656
      ectodermal dysplasia 255
        Papillon-Lefevre disease 1
          Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
Path 2
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      musculoskeletal system disease 6245
        connective tissue disease 4357
          bone disease 3042
            bone remodeling disease 432
              bone resorption disease 351
                Osteolysis 24
                  Acro-Osteolysis 8
                    Keratosis Palmoplantaris with Periodontopathia and Onychogryposis 1
paths to the root