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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:Hemifacial Myohyperplasia
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Accession:DOID:9008475 term browser browse the term
Synonyms:exact_synonym: Hypertrophy and asymmetry of the facial muscles
 primary_id: MESH:C535862
 alt_id: MIM:606773


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Hemifacial Myohyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO OMIM NCBI chr 2:115,175,275...115,249,034
Ensembl chr 2:115,174,984...115,249,032 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Pathological Conditions, Signs and Symptoms 13604
      Anatomical Pathological Conditions 2750
        Facial Asymmetry 8
          Hemifacial Myohyperplasia 1
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