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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 6
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Accession:DOID:0110740 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. (DO)
Synonyms:exact_synonym: CoPAN;   NBIA6;   Neurodegeneration with brain iron accumulation due to COASY mutation
 broad_synonym: COASY-RELATED CONDITION
 primary_id: OMIM:615643
 xref: ICD10CM:G23.0;   ORDO:397725


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neurodegeneration with brain iron accumulation 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Coasy Coenzyme A synthase ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:615643
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 More... NCBI chr10:86,014,566...86,018,849
Ensembl chr10:86,014,597...86,018,841 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        neurodegenerative disease 4906
          neurodegeneration with brain iron accumulation 188
            neurodegeneration with brain iron accumulation 6 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            cerebral degeneration 651
              neuroaxonal dystrophy 211
                neurodegeneration with brain iron accumulation 188
                  neurodegeneration with brain iron accumulation 6 1
paths to the root