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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:Basaran Yilmaz Syndrome
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Accession:DOID:9005856 term browser browse the term
Synonyms:exact_synonym: Keratoderma, hypotrichosis and leukonychia totalis
 primary_id: MESH:C537660
 alt_id: RDO:0003537
For additional species annotation, visit the Alliance of Genome Resources.



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Basaran Yilmaz Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD 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 18256
    syndrome 9802
      Basaran Yilmaz Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            skin disease 3880
              keratosis 152
                palmoplantar keratosis 36
                  Basaran Yilmaz Syndrome 1
paths to the root