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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      chromosomal deletion syndrome 1493
        Axenfeld-Rieger syndrome type 2 0
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            mouth disease 1012
              tooth disease 443
                Tooth Abnormalities 282
                  anodontia 73
                    Axenfeld-Rieger syndrome type 2 0
paths to the root