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ONTOLOGY REPORT - ANNOTATIONS


Term:neurodegeneration with brain iron accumulation 2A
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Accession:DOID:0110735 term browser browse the term
Definition:An autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life. Pathologic findings include axonal swelling and spheroid bodies in the central nervous system. (OMIM)
Synonyms:exact_synonym: INAD;   INAD1;   Infantile neuroaxonal dystrophy 1;   NBIA2A;   PLAN;   Seitelberger disease;   Seitelberger's disease;   Seitelbergers disease;   infantile neuroaxonal dystrophy;   neurodegeneration, PLA2G6-associated
 primary_id: OMIM:256600
 alt_id: RDO:0008416
 xref: GARD:2751
For additional species annotation, visit the Alliance of Genome Resources.


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neurodegeneration with brain iron accumulation 2A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cbs cystathionine beta synthase JBrowse link 20 10,361,987 10,386,663 RGD:8554872
G Dmd dystrophin JBrowse link X 51,149,358 53,519,271 RGD:8554872
G Pla2g6 phospholipase A2 group VI JBrowse link 7 120,519,479 120,559,716 RGD:7240710
RGD:12910703
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          neurodegeneration with brain iron accumulation 2A 3
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            cerebral degeneration 194
              neuroaxonal dystrophy 22
                neurodegeneration with brain iron accumulation 14
                  neurodegeneration with brain iron accumulation 2A 3
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