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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:Trichoepithelioma, Multiple Familial, 2
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Accession:DOID:9008454 term browser browse the term
Synonyms:exact_synonym: MFT2
 primary_id: MESH:C567418;   RDO:0015492
 alt_id: OMIM:612099


show annotations for term's descendants           Sort by:
Trichoepithelioma, Multiple Familial, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Trichoepithelioma, multiple familial, 2 ClinVar PMID:25741868 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      skin disease 3960
        Skin Neoplasms 399
          Trichoepithelioma, Multiple Familial, 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Skin Neoplasms 399
                Trichoepithelioma, Multiple Familial, 2 1
paths to the root