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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 1
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Accession:DOID:0111244 term browser browse the term
Definition:An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (DO)
Synonyms:exact_synonym: PPK-CA, Stevanovic type;   PPKCA, Stevanovic type;   PPKCA1;   autosomal dominant palmoplantar hyperkeratosis and congenital alopecia;   autosomal dominant palmoplantar keratoderma and congenital alopecia;   keratoderma-hypotrichosis-leukonychia totalis syndrome;   palmoplantar keratoderma and congenital alopecia, Stevanovic type
 primary_id: OMIM:104100
 xref: GARD:604;   ORDO:1010
For additional species annotation, visit the Alliance of Genome Resources.


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palmoplantar keratoderma and congenital alopecia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: autosomal dominant palmoplantar keratoderma and congenital alopecia OMIM
ClinVar
PMID:25168385 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    physical disorder 2917
      palmoplantar keratoderma and congenital alopecia 1 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          skin disease 2741
            hair disease 242
              hypotrichosis 117
                alopecia 81
                  Alopecia Congenita Keratosis Palmoplantaris 1
                    palmoplantar keratoderma and congenital alopecia 1 1
paths to the root