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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:hypotrichosis 3
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Accession:DOID:0110700 term browser browse the term
Definition:A hypotrichosis that has_material_basis_in a autosomal dominant mutation of KRT74 on chromosome 12q13.13. (DO)
Synonyms:exact_synonym: HTSS2;   HYPOTRICHOSIS SIMPLEX OF THE SCALP 2;   HYPT3
 primary_id: OMIM:613981
 alt_id: RDO:9000471
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    sensory system disease 5599
      skin disease 2948
        hair disease 245
          hypotrichosis 120
            hypotrichosis 3 0
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                hypotrichosis 3 0
paths to the root