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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:Alopecia Congenita Keratosis Palmoplantaris
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Accession:DOID:9007076 term browser browse the term
Synonyms:exact_synonym: Alopecia Congenita With Keratosis Palmoplantaris;   Alopecia congenita with hyperkeratosis of the palms and soles
 primary_id: MESH:C537050


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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:25168385 PMID:25327171 PMID:25741868 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Anatomical Pathological Conditions 2665
        alopecia 94
          Alopecia Congenita Keratosis Palmoplantaris 1
            palmoplantar keratoderma and congenital alopecia 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            skin disease 3968
              hair disease 328
                hypotrichosis 148
                  alopecia 94
                    Alopecia Congenita Keratosis Palmoplantaris 1
                      palmoplantar keratoderma and congenital alopecia 1 1
paths to the root