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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:familial medullary thyroid carcinoma
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Accession:DOID:0050547 term browser browse the term
Definition:A thyroid gland medullary carcinoma that has_material_basis_in autosomal dominant inheritance. (DO)
Synonyms:exact_synonym: FMTC;   MEN2A and FMTC;   MTC;   MTC1;   familial medullary thyroid cancer
 primary_id: MESH:C536911
 alt_id: OMIM:155240
 xref: EFO:1001957;   MONDO:0007958

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familial medullary thyroid carcinoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Insrr insulin receptor related receptor ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar NCBI chrNW_004955545:2,911,691...2,928,335
Ensembl chrNW_004955545:2,911,691...2,928,326 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar PMID:10330344 PMID:10443680 PMID:10861667 PMID:11139246 PMID:11159935 More... NCBI chrNW_004955545:2,929,704...2,947,579
Ensembl chrNW_004955545:2,929,704...2,947,579 		JBrowse link
G Prlr prolactin receptor ISO OMIM:155240 MouseDO NCBI chrNW_004955426:20,161,406...20,326,688
Ensembl chrNW_004955426:20,168,830...20,326,840 		JBrowse link
G Ret ret proto-oncogene susceptibility ISO ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar
OMIM		 PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chrNW_004955546:1,221,995...1,252,147
Ensembl chrNW_004955546:1,221,995...1,253,946 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      Multiple Primary Neoplasms 223
        multiple endocrine neoplasia 18
          multiple endocrine neoplasia type 2A 7
            familial medullary thyroid carcinoma 4
Path 2
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      Neoplasms by Site 6188
        organ system cancer 4626
          nervous system cancer 849
            neuroectodermal tumor 399
              neuroendocrine tumor 194
                neuroendocrine carcinoma 98
                  Medullary Carcinomas 6
                    thyroid gland medullary carcinoma 5
                      familial medullary thyroid carcinoma 4
paths to the root