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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:palmoplantar keratoderma and congenital alopecia 2
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Accession:DOID:0111245 term browser browse the term
Definition:An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. (DO)
Synonyms:exact_synonym: CASS;   PPK-CA, Wallis type;   PPKCA Wallis type;   PPKCA2;   autosomal recessive palmoplantar hyperkeratosis and congenital alopecia;   autosomal recessive palmoplantar keratoderma and congenital alopecia;   cataract, alopecia, sclerodactyly;   cataract-alopecia-sclerodactyly syndrome;   palmoplantar keratoderma and congenital alopecia, Wallis type
 primary_id: MESH:C535336
 alt_id: OMIM:212360
 xref: ORDO:1366



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    physical disorder 4989
      palmoplantar keratoderma and congenital alopecia 2 0
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Immune & Inflammatory Diseases 5164
        immune system disease 4459
          primary immunodeficiency disease 3851
            autoimmune disease 2062
              autoimmune disease of musculoskeletal system 930
                rheumatic disease 716
                  scleroderma 123
                    localized scleroderma 13
                      palmoplantar keratoderma and congenital alopecia 2 0
paths to the root