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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 IAGP
EXP
ISS		 ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6
CTD Direct Evidence: marker/mechanism
OMIM:615643		 ClinVar
OMIM
CTD
MouseDO		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:21264299 PMID:24360804 More... NCBI chr17:42,562,148...42,566,277
Ensembl chr17:42,561,467...42,566,277 		JBrowse link
G LOC130060908 ATAC-STARR-seq lymphoblastoid active region 12207 IAGP ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 6 ClinVar PMID:25741868 PMID:28492532 NCBI chr17:42,562,484...42,562,673 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        neurodegenerative disease 6568
          neurodegeneration with brain iron accumulation 234
            neurodegeneration with brain iron accumulation 6 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            cerebral degeneration 839
              neuroaxonal dystrophy 267
                neurodegeneration with brain iron accumulation 234
                  neurodegeneration with brain iron accumulation 6 2
paths to the root