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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 4
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Accession:DOID:0110738 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. (DO)
Synonyms:exact_synonym: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION;   MPAN;   NBIA due to C19orf12 mutation;   NBIA4;   neurodegeneration with brain iron accumulation due to C19orf12 mutation;   neurodegeneration with brain iron accumulation type 4
 primary_id: OMIM:614298
 alt_id: RDO:9000126
 xref: ORDO:289560
For additional species annotation, visit the Alliance of Genome Resources.


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neurodegeneration with brain iron accumulation 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC690000 similar to CG3740-PA ISO ClinVar Annotator: match by OMIM:614298
ClinVar Annotator: match by term: MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION
ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4
OMIM
ClinVar
PMID:18414213, PMID:20039086, PMID:21981780, PMID:22508347, PMID:22584950, PMID:23166001, PMID:23269600, PMID:23278385, PMID:23436634, PMID:23494994, PMID:23857908, PMID:24033266, PMID:24209434, PMID:25592411, PMID:25741868, PMID:26187298, PMID:26539891, PMID:27112773, PMID:28347615, PMID:28492532, PMID:28641177, PMID:29295770, PMID:30088953, PMID:30392167, PMID:31087512, PMID:32581362 NCBI chr 1:94,572,714...94,587,842
Ensembl chr 1:94,579,080...94,587,219
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        neurodegenerative disease 3191
          neurodegeneration with brain iron accumulation 14
            neurodegeneration with brain iron accumulation 4 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            cerebral degeneration 272
              neuroaxonal dystrophy 32
                neurodegeneration with brain iron accumulation 14
                  neurodegeneration with brain iron accumulation 4 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.