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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:Axenfeld-Rieger syndrome type 2
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Accession:DOID:0110121 term browser browse the term
Definition:An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14. (DO)
Synonyms:exact_synonym: RIEG2;   Rieger syndrome 2;   Rieger syndrome type 2
 primary_id: MESH:C535680
 alt_id: OMIM:601499
 xref: ICD10CM:Q13.8
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 13084
    syndrome 7020
      Axenfeld-Rieger syndrome 25
        Axenfeld-Rieger syndrome type 2 0
Path 2
Term Annotations click to browse term
  disease 13084
    Pathological Conditions, Signs and Symptoms 8602
      Pathologic Processes 5908
        Chromosome Aberrations 1870
          Aneuploidy 1216
            Monosomy 977
              Chromosome Deletion 977
                chromosomal deletion syndrome 938
                  Axenfeld-Rieger syndrome type 2 0
paths to the root