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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: MIM:104100
 xref: GARD:604;   ORDO:1010


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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:12457340 PMID:15879313 PMID:19338053 PMID:25168385 PMID:25327171 More... NCBI chr20:36,302,490...36,315,010
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    physical disorder 5203
      palmoplantar keratoderma and congenital alopecia 1 1
Path 2
Term Annotations click to browse term
  disease 19145
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11219
        Neurologic Manifestations 10461
          sensory system disease 7372
            skin disease 4308
              hair disease 332
                hypotrichosis 150
                  alopecia 95
                    Alopecia Congenita Keratosis Palmoplantaris 1
                      palmoplantar keratoderma and congenital alopecia 1 1
paths to the root