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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:Bartter disease type 5
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Accession:DOID:0110147 term browser browse the term
Definition:A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11. (DO)
Synonyms:exact_synonym: BARTS5;   Bartter syndrome, type 5, antenatal, transient;   transient antenatal Bartter syndrome-5
 primary_id: OMIM:300971


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    syndrome 9894
      Bartter disease 6
        Bartter disease type 5 0
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      endocrine system disease 5955
        adrenal gland disease 266
          adrenal cortex disease 91
            adrenal gland hyperfunction 30
              primary hyperaldosteronism 24
                Bartter disease 6
                  Bartter disease type 5 0
paths to the root