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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:Preauricular Tag, Isolated, Autosomal Dominant, 1
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Accession:DOID:9000629 term browser browse the term
Definition:A preauricular tag is a small excrescence of skin that contains elastic cartilage most commonly located anterior to the tragus, although it can be located on different regions of the ear helix and/or face.
Synonyms:exact_synonym: PREAURICULAR SKIN TAG;   accessory auricle;   accessory tragus;   preauricular appendage
 primary_id: MESH:C566904
 alt_id: DOID:9002696;   MIM:610420


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Preauricular Tag, Isolated, Autosomal Dominant, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pcsk7 proprotein convertase subtilisin/kexin type 7 ISO ClinVar Annotator: match by term: Preauricular skin tag ClinVar PMID:25741868 NCBI chr 8:46,202,079...46,224,699
Ensembl chr 8:46,202,131...46,224,705 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    sensory system disease 7235
      auditory system disease 1047
        Preauricular Tag, Isolated, Autosomal Dominant, 1 1
Path 2
Term Annotations click to browse term
  disease 19065
    Pathological Conditions, Signs and Symptoms 13511
      Signs and Symptoms 11070
        Neurologic Manifestations 10322
          sensory system disease 7235
            skin disease 4183
              reactive cutaneous fibrous lesion 1
                skin tag 1
                  Preauricular Tag, Isolated, Autosomal Dominant, 1 1
paths to the root