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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:Multiple Self-healing Palmoplantar Carcinoma
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Accession:DOID:9007939 term browser browse the term
Synonyms:exact_synonym: CIDED;   MSPC;   corneal intraepithelial dyskeratosis and ectodermal dysplasia
 primary_id: MIM:615225


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Multiple Self-healing Palmoplantar Carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nlrp1a NLR family, pyrin domain containing 1A ISO ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing ClinVar
OMIM		 PMID:16199547 PMID:17377159 PMID:23349227 PMID:24033266 PMID:25050600 More... NCBI chr10:56,277,134...56,332,229
Ensembl chr10:55,778,560...55,825,180 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      skin disease 4322
        Skin Abnormalities 1321
          Multiple Self-healing Palmoplantar Carcinoma 1
Path 2
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13625
      Signs and Symptoms 11221
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              Skin Neoplasms 491
                skin cancer 254
                  skin carcinoma 174
                    skin squamous cell carcinoma 12
                      keratoacanthoma 5
                        Multiple Self-healing Palmoplantar Carcinoma 1
paths to the root