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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:smooth muscle hamartoma
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Accession:DOID:9006221 term browser browse the term
Definition:This neoplasm is a benign proliferation of mature smooth muscle. It can arise from the arrector pili muscle attached to hair follicles, the dartos muscle in the scrotum, the vascular smooth muscle, or the muscularis mammillae of the areolae. It is a sporadic condition that usually presents as a solitary lesion.
Synonyms:narrow_synonym: CONGENITAL SMOOTH MUSCLE HAMARTOMA;   acquired smooth muscle hamartoma


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smooth muscle hamartoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: Congenital smooth muscle hamartoma ClinVar PMID:28347698 PMID:32170967 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actb actin, beta ISO ClinVar Annotator: match by term: CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC | ClinVar Annotator: match by term: CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC ClinVar PMID:25741868 PMID:28347698 PMID:32170967 NCBI chr12:11,663,112...11,666,697
Ensembl chr12:11,663,109...11,672,877 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      Hamartoma 228
        smooth muscle hamartoma 1
          CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY 1
paths to the root