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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: NCI:C175707;   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:29389947 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 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        neurodegenerative disease 3342
          neurodegeneration with brain iron accumulation 16
            neurodegeneration with brain iron accumulation 4 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            cerebral degeneration 313
              neuroaxonal dystrophy 34
                neurodegeneration with brain iron accumulation 16
                  neurodegeneration with brain iron accumulation 4 1
paths to the root