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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 21121
    physical disorder 4936
      palmoplantar keratoderma and congenital alopecia 2 0
Path 2
Term Annotations click to browse term
  disease 21121
    disease of anatomical entity 18204
      Immune & Inflammatory Diseases 5560
        immune system disease 4768
          primary immunodeficiency disease 4141
            autoimmune disease 2317
              autoimmune disease of musculoskeletal system 994
                rheumatic disease 782
                  scleroderma 123
                    localized scleroderma 12
                      palmoplantar keratoderma and congenital alopecia 2 0
paths to the root