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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:Tufted Angioma
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Accession:DOID:9004090 term browser browse the term
Synonyms:primary_id: MESH:C536924
 alt_id: MIM:607859

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show annotations for term's descendants           Sort by:
Tufted Angioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 NCBI chrNW_004624811:4,904,428...5,108,713
Ensembl chrNW_004624811:4,909,324...5,108,322 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Tufted angioma ClinVar PMID:25741868 PMID:26422291 PMID:28492532 NCBI chrNW_004624761:14,330,224...14,380,680
Ensembl chrNW_004624761:14,330,489...14,379,051 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    sensory system disease 6503
      skin disease 3813
        Skin Neoplasms 482
          Tufted Angioma 2
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        Neurologic Manifestations 9152
          sensory system disease 6503
            skin disease 3813
              Skin Neoplasms 482
                Tufted Angioma 2
paths to the root