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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;   RDO:0002810
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 chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Pathological Conditions, Signs and Symptoms 11300
      Anatomical Pathological Conditions 2253
        alopecia 91
          Alopecia Congenita Keratosis Palmoplantaris 1
            palmoplantar keratoderma and congenital alopecia 1 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      nervous system disease 13193
        sensory system disease 6410
          skin disease 3782
            hair disease 257
              hypotrichosis 128
                alopecia 91
                  Alopecia Congenita Keratosis Palmoplantaris 1
                    palmoplantar keratoderma and congenital alopecia 1 1
paths to the root