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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:pantothenate kinase-associated neurodegeneration
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Accession:DOID:3981 term browser browse the term
Definition:A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. (DO)
Synonyms:exact_synonym: Hallervorden Spatz disease;   Hallervorden Spatz syndrome;   NBIA1;   Neurodegeneration With Brain Iron Accumulation 1;   PKAN;   PKAN neuroaxonal dystrophy, juvenile onset;   brain iron accumulation type I syndrome;   juvenile-onset neuroaxonal dystrophies;   juvenile-onset neuroaxonal dystrophy;   neurodegeneration with brain iron accumulation type 1;   pigmentary pallidal atrophy;   pigmentary pallidal degeneration
 primary_id: MESH:D006211
 alt_id: OMIM:234200
 xref: GARD:6564;   NCI:C84988;   NCI:C8967;   ORDO:157850
For additional species annotation, visit the Alliance of Genome Resources.


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pantothenate kinase-associated neurodegeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mavs mitochondrial antiviral signaling protein ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 NCBI chr 3:118,451,650...118,466,094
Ensembl chr 3:118,451,743...118,466,094 		JBrowse link
G Mir103a2 microRNA 103a-2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration ClinVar PMID:25741868 NCBI chr 3:118,510,194...118,510,279
Ensembl chr 3:118,510,194...118,510,279 		JBrowse link
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301187 PMID:1734303 PMID:7898702 PMID:9536098 PMID:11479594 More... NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration OMIM
ClinVar		 PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 More... NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          Nervous System Heredodegenerative Disorders 2364
            pantothenate kinase-associated neurodegeneration 6
              Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            cerebral degeneration 418
              neuroaxonal dystrophy 70
                neurodegeneration with brain iron accumulation 52
                  pantothenate kinase-associated neurodegeneration 6
                    Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 1
paths to the root