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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;   RDO:0009398;   RDO:0014263
For additional species annotation, visit the Alliance of Genome Resources.



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neurodegeneration with brain iron accumulation 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by OMIM:610217
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 2b
ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION, PLA2G6-RELATED
OMIM
ClinVar
PMID:16783378 PMID:17033970 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        neurodegenerative disease 3527
          neurodegeneration with brain iron accumulation 49
            neurodegeneration with brain iron accumulation 2B 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            cerebral degeneration 368
              neuroaxonal dystrophy 67
                neurodegeneration with brain iron accumulation 49
                  neurodegeneration with brain iron accumulation 2B 1
paths to the root