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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:thyroid gland medullary carcinoma
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Accession:DOID:3973 term browser browse the term
Definition:A thyroid gland carcinoma that has_material_basis_in parafollicular cells. (DO)
Synonyms:exact_synonym: medullary carcinoma of the thyroid gland;   medullary thyroid cancer (MTC);   thyroid medullary cancer;   thyroid medullary carcinoma;   ultimobranchial thyroid tumor;   ultimobranchial thyroid tumour
 primary_id: MESH:C536914
 xref: NCI:C161006;   NCI:C24170;   NCI:C3879
For additional species annotation, visit the Alliance of Genome Resources.


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thyroid gland medullary carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Medullary thyroid gland carcinoma ClinVar PMID:12460918 PMID:15696205 PMID:16361624 PMID:16618717 PMID:17062680 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G RET ret proto-oncogene EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Medullary thyroid carcinoma
ClinVar Annotator: match by term: Medullary thyroid gland carcinoma		 CTD
ClinVar		 PMID:2008030 PMID:2660074 PMID:2904651 PMID:3078962 PMID:7536460 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
familial medullary thyroid carcinoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G INSRR insulin receptor related receptor IAGP ClinVar Annotator: match by term: Familial medullary thyroid carcinoma ClinVar NCBI chr 1:156,840,063...156,859,117
Ensembl chr 1:156,840,063...156,859,117 		JBrowse link
G LOC106736614 RET 5' regulatory region IAGP ClinVar Annotator: match by term: Thyroid cancer, familial medullary ClinVar PMID:24033266 PMID:25741868 NCBI chr10:43,072,914...43,077,291 JBrowse link
G NTRK1 neurotrophic receptor tyrosine kinase 1 IAGP ClinVar Annotator: match by term: Thyroid cancer, familial medullary
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 chr 1:156,815,750...156,881,850
Ensembl chr 1:156,815,636...156,881,850 		JBrowse link
G PRLR prolactin receptor ISS OMIM:155240 MouseDO NCBI chr 5:35,048,756...35,230,487
Ensembl chr 5:35,048,756...35,230,487 		JBrowse link
G RET ret proto-oncogene IAGP
EXP		 ClinVar Annotator: match by term: Familial medullary thyroid carcinoma
ClinVar Annotator: match by term: Thyroid cancer, familial medullary
ClinVar Annotator: match by term: Familial medullary thyroid carcinoma | ClinVar Annotator: match by term: Thyroid cancer, familial medullary
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:2660074 PMID:3078962 PMID:3697657 PMID:7536460 PMID:7595170 More... NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    disease of cellular proliferation 9921
      Neoplasms by Histologic Type 6606
        Glandular and Epithelial Neoplasms 4775
          carcinoma 3614
            thyroid gland carcinoma 117
              thyroid gland medullary carcinoma 6
                familial medullary thyroid carcinoma 5
Path 2
Term Annotations click to browse term
  disease 35773
    disease of cellular proliferation 9921
      Neoplasms by Site 9097
        Nervous System Neoplasms 2331
          nervous system cancer 1595
            neuroectodermal tumor 1067
              neuroendocrine tumor 237
                neuroendocrine carcinoma 101
                  Medullary Carcinomas 7
                    thyroid gland medullary carcinoma 6
                      familial medullary thyroid carcinoma 5
paths to the root