ONTOLOGY REPORT - ANNOTATIONS


Term:neurodegeneration with brain iron accumulation 2B
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Accession:DOID:0110736 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. (DO)
Synonyms:exact_synonym: NBIA2B;   Neuroaxonal Dystrophy, Atypical;   Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related
 narrow_synonym: NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME
 primary_id: MESH:C565699
 alt_id: OMIM:610217;   RDO:0009398;   RDO:0014263
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neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:8554872

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          neurodegeneration with brain iron accumulation 2B 1
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        central nervous system disease 6950
          brain disease 6456
            cerebral degeneration 200
              neuroaxonal dystrophy 25
                neurodegeneration with brain iron accumulation 16
                  neurodegeneration with brain iron accumulation 2B 1
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