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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:Ferguson-Smith tumor
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Accession:DOID:5585 term browser browse the term
Synonyms:exact_synonym: ESS1;   Epithelioma, self-healing squamous, 1;   Ferguson-Smith Type epithelioma;   Keratoacanthoma Familial;   MSSE;   multiple self-healing epithelioma of Ferguson-Smith;   multiple self-healing squamous epithelioma;   multiple self-healing squamous epithelioma, susceptibility to
 primary_id: MESH:C536150
 alt_id: DOID:9003571;   OMIM:132800;   RDO:0001611
 xref: NCI:C4461
For additional species annotation, visit the Alliance of Genome Resources.


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Ferguson-Smith tumor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbr1 transforming growth factor, beta receptor 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ferguson-Smith type epithelioma | ClinVar Annotator: match by term: Multiple self-healing squamous epithelioma		 CTD
ClinVar
OMIM		 PMID:2511639 PMID:2647812 PMID:5173258 PMID:8499949 PMID:16596670 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		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
          skin cancer 157
            skin carcinoma 63
              skin squamous cell carcinoma 11
                keratoacanthoma 5
                  Ferguson-Smith tumor 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
                skin cancer 157
                  skin carcinoma 63
                    skin squamous cell carcinoma 11
                      keratoacanthoma 5
                        Ferguson-Smith tumor 1
paths to the root