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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 3
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Accession:DOID:0110737 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. (DO)
Synonyms:exact_synonym: NBIA3;   adult basal ganglia disease;   basal ganglia disease, adult-onset;   ferritin-related neurodegeneration;   hereditary ferritinopathy;   neuroferritinopathy;   neuroferritinopathy; basal ganglia disease, adult-onset
 xref: MESH:C548080;   MIM:606159;   MONDO:0011638;   ORDO:157846


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neurodegeneration with brain iron accumulation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human)
DNA:duplication:cds:458dupA(human)
DNA:mutations:exon:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BASAL GANGLIA DISEASE, ADULT-ONSET | ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 3 | ClinVar Annotator: match by term: Neuroferritinopathy 		OMIM
CTD
ClinVar
RGD		 PMID:9226182 PMID:9414300 PMID:11438811 PMID:12200611 PMID:12746423 More... RGD:5509859, RGD:5509860, RGD:5509861 NCBI chr 1:105,072,858...105,074,705
Ensembl chr  X:45,399,355...45,399,915
Ensembl chr 2:45,399,355...45,399,915
Ensembl chr 1:45,399,355...45,399,915 		JBrowse link
G Gys1 glycogen synthase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:17182944 PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 1:105,051,916...105,071,763
Ensembl chr 1:105,051,961...105,072,419 		JBrowse link
G Nox1 NADPH oxidase 1 ISO ClinVar Annotator: match by term: Neuroferritinopathy ClinVar PMID:29091079 PMID:31345363 PMID:38876456 NCBI chr  X:101,572,338...101,625,571
Ensembl chr  X:101,572,340...101,595,520 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        neurodegenerative disease 5086
          neurodegeneration with brain iron accumulation 188
            neurodegeneration with brain iron accumulation 3 3
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        central nervous system disease 12646
          brain disease 11866
            cerebral degeneration 681
              neuroaxonal dystrophy 211
                neurodegeneration with brain iron accumulation 188
                  neurodegeneration with brain iron accumulation 3 3
paths to the root