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Facial Hypertrichosis - Ontology Report - Rat Genome Database

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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:Facial Hypertrichosis
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Accession:DOID:9008689 term browser browse the term
Synonyms:primary_id: MESH:C565029
 alt_id: MIM:134000

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Facial Hypertrichosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Facial hypertrichosis ClinVar PMID:32581362 NCBI chrNW_004936809:902,938...967,771
Ensembl chrNW_004936809:911,764...966,839 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    sensory system disease 6685
      skin disease 3910
        hair disease 301
          hypertrichosis 30
            Facial Hypertrichosis 1
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        Neurologic Manifestations 9431
          sensory system disease 6685
            skin disease 3910
              hair disease 301
                hypertrichosis 30
                  Facial Hypertrichosis 1
paths to the root