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



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      palmoplantar keratoderma and congenital alopecia 2 0
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      Immune & Inflammatory Diseases 5045
        immune system disease 4371
          primary immunodeficiency disease 3717
            autoimmune disease 2283
              autoimmune disease of musculoskeletal system 961
                rheumatic disease 752
                  scleroderma 118
                    localized scleroderma 11
                      palmoplantar keratoderma and congenital alopecia 2 0
paths to the root