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ONTOLOGY REPORT - ANNOTATIONS


Term:neurodegeneration with brain iron accumulation 5
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Accession:DOID:0110739 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION;   BPAN;   NBIA5;   SENDA;   STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD
 primary_id: OMIM:300894
 alt_id: RDO:9000612
 xref: ORDO:329284
For additional species annotation, visit the Alliance of Genome Resources.


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neurodegeneration with brain iron accumulation 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud5 OTU deubiquitinase 5 JBrowse link X 15,471,212 15,504,372 RGD:8554872
G Wdr45 WD repeat domain 45 JBrowse link X 15,621,249 15,627,159 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      nervous system disease 10203
        neurodegenerative disease 2691
          neurodegeneration with brain iron accumulation 13
            neurodegeneration with brain iron accumulation 5 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            cerebral degeneration 235
              neuroaxonal dystrophy 22
                neurodegeneration with brain iron accumulation 13
                  neurodegeneration with brain iron accumulation 5 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.