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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 7
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Accession:DOID:9009152 term browser browse the term
Synonyms:exact_synonym: NBIA7;   REPS1-RELATED CONDITION
 primary_id: MIM:617916

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Neurodegeneration with Brain Iron Accumulation 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reps1 RALBP1 associated Eps domain containing 1 ISO ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 7 | ClinVar Annotator: match by term: REPS1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29395073 NCBI chrNW_004936560:5,981,037...6,057,059
Ensembl chrNW_004936560:5,981,244...6,056,984 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      nervous system disease 12610
        neurodegenerative disease 4642
          neurodegeneration with brain iron accumulation 182
            Neurodegeneration with Brain Iron Accumulation 7 1
Path 2
Term Annotations click to browse term
  disease 14637
    disease of anatomical entity 14326
      nervous system disease 12610
        central nervous system disease 11271
          brain disease 10577
            cerebral degeneration 648
              neuroaxonal dystrophy 203
                neurodegeneration with brain iron accumulation 182
                  Neurodegeneration with Brain Iron Accumulation 7 1
paths to the root