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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:CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY
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Accession:DOID:9006720 term browser browse the term
Definition:This disease is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy.
Synonyms:exact_synonym: CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC;   CSMH
 narrow_synonym: CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC
 primary_id: OMIM:620470


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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 chr 6:12,421,006...12,424,449
Ensembl chr 6:12,418,932...12,462,845 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      Hamartoma 227
        smooth muscle hamartoma 1
          CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY 1
paths to the root