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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 2A
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Accession:DOID:0110735 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 and is characterized by onset in the first 2 years of life. (DO)
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
 xref: GARD:2751;   NCI:C84927
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO DNA:deletions, missense mutations, nonsense mutation: exon:multiple
ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy | ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration
OMIM
ClinVar
RGD
PMID:9536098 PMID:16783378 PMID:17033970 PMID:17576681 PMID:18359254 More... RGD:12910703 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 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        neurodegenerative disease 3879
          neurodegeneration with brain iron accumulation 52
            neurodegeneration with brain iron accumulation 2A 1
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      nervous system disease 13146
        central nervous system disease 11274
          brain disease 10560
            cerebral degeneration 421
              neuroaxonal dystrophy 70
                neurodegeneration with brain iron accumulation 52
                  neurodegeneration with brain iron accumulation 2A 1
paths to the root