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ONTOLOGY REPORT - ANNOTATIONS


Term:neurodegeneration with brain iron accumulation 6
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Accession:DOID:0110740 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: CoPAN;   NBIA6;   Neurodegeneration with brain iron accumulation due to COASY mutation
 primary_id: OMIM:615643;   RDO:9001024
 xref: ORDO:397725
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neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Coasy Coenzyme A synthase JBrowse link 10 88,992,413 88,996,677 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14924
    Developmental Diseases 7770
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7092
        genetic disease 6457
          neurodegeneration with brain iron accumulation 6 1
Path 2
Term Annotations click to browse term
  disease 14924
    disease of anatomical entity 14094
      nervous system disease 9141
        central nervous system disease 6931
          brain disease 6435
            cerebral degeneration 194
              neuroaxonal dystrophy 21
                neurodegeneration with brain iron accumulation 12
                  neurodegeneration with brain iron accumulation 6 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.