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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:Fibrous Sheath Dysplasia
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Accession:DOID:9004821 term browser browse the term
Synonyms:primary_id: RDO:9000727


show annotations for term's descendants           Sort by:
Fibrous Sheath Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc39 coiled-coil domain 39 molecular ruler complex subunit ISO ClinVar Annotator: match by term: Fibrous Sheath Dysplasia ClinVar NCBI chr 2:116,665,651...116,703,354
Ensembl chr 2:116,665,261...116,703,350 		JBrowse link
G Ttc14 tetratricopeptide repeat domain 14 ISO ClinVar Annotator: match by term: Fibrous Sheath Dysplasia ClinVar NCBI chr 2:116,653,543...116,665,072
Ensembl chr 2:116,653,595...116,664,158 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      reproductive system disease 3191
        male reproductive system disease 2044
          Fibrous Sheath Dysplasia 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5391
        reproductive system disease 3191
          male reproductive system disease 2044
            Fibrous Sheath Dysplasia 2
paths to the root