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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: OMIM:615225
For additional species annotation, visit the Alliance of Genome Resources.


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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: Corneal intraepithelial dyskeratosis and ectodermal dysplasia
ClinVar Annotator: match by term: Palmoplantar carcinoma, multiple self-healing
OMIM
ClinVar
PMID:17377159 PMID:23349227 PMID:25050600 PMID:25741868 PMID:27662089 NCBI chr10:57,692,474...57,747,608
Ensembl chr10:57,692,474...57,822,498
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    sensory system disease 5335
      skin disease 2746
        Skin Abnormalities 633
          Multiple Self-healing Palmoplantar Carcinoma 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        sensory system disease 5335
          skin disease 2746
            Skin Neoplasms 248
              skin cancer 116
                skin carcinoma 53
                  skin squamous cell carcinoma 5
                    keratoacanthoma 2
                      Multiple Self-healing Palmoplantar Carcinoma 1
paths to the root