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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: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;   Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related;   atypical neuroaxonal dystrophy
 narrow_synonym: NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME
 primary_id: MESH:C565699
 alt_id: OMIM:610217


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        neurodegenerative disease 4894
          neurodegeneration with brain iron accumulation 189
            neurodegeneration with brain iron accumulation 2B 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            cerebral degeneration 649
              neuroaxonal dystrophy 212
                neurodegeneration with brain iron accumulation 189
                  neurodegeneration with brain iron accumulation 2B 1
paths to the root