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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;   Juvenile-Onset Neuroaxonal Dystrophy;   NBIA1;   Neurodegeneration With Brain Iron Accumulation 1;   Neurodegeneration with Brain Iron Accumulation Type 1;   PKAN;   PKAN neuroaxonal dystrophy, juvenile onset;   brain iron accumulation type I syndrome;   juvenile-onset neuroaxonal dystrophies;   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 Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Pigmentary pallidal degeneration
ClinVar Annotator: match by OMIM:234200
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1301187, PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:12811783, PMID:14580665, PMID:14638969, PMID:15465096, PMID:15565311, PMID:15659606, PMID:15834858, PMID:15843062, PMID:15911822, PMID:16023068, PMID:16240131, PMID:16272150, PMID:16437574, PMID:16450344, PMID:17903678, PMID:19224615, PMID:20193558, PMID:20603201, PMID:20629144, PMID:21198414, PMID:21459825, PMID:21480873, PMID:22103354, PMID:22127788, PMID:22221393, PMID:22416811, PMID:22682757, PMID:23634310, PMID:23757202, PMID:23968566, PMID:24033266, PMID:24075960, PMID:24209433, PMID:24215330, PMID:24348190, PMID:24712887, PMID:25741868, PMID:25802776, PMID:25915509, PMID:26087139, PMID:26467025, PMID:26795593, PMID:26828213, PMID:27185474, PMID:28094106, PMID:28357202, PMID:28492532, PMID:28708303, PMID:28781879, PMID:28821231, PMID:28845923, PMID:28881514, PMID:29590070, PMID:30311386, PMID:30681573, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797 		JBrowse link
G Snca synuclein alpha ISO RGD PMID:10934140 RGD:6480098 NCBI chr 4:90,782,412...90,883,236
Ensembl chr 4:90,782,374...90,882,285 		JBrowse link
G Sncb synuclein, beta ISO RGD PMID:10934140 RGD:6480098 NCBI chr17:10,384,472...10,392,776
Ensembl chr17:10,384,511...10,392,843 		JBrowse link
G Sncg synuclein, gamma ISO RGD PMID:10934140 RGD:6480098 NCBI chr16:10,722,110...10,726,648
Ensembl chr16:10,722,106...10,726,707 		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 OMIM:607236
ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration		 OMIM
ClinVar		 PMID:1734303, PMID:7898702, PMID:11479594, PMID:12058097, PMID:12510040, PMID:14638969, PMID:15565311, PMID:15659606, PMID:15834858, PMID:16272150, PMID:16437574, PMID:16450344, PMID:22221393, PMID:22416811, PMID:23968566, PMID:24075960, PMID:24215330, PMID:24348190, PMID:25741868, PMID:25802776, PMID:26087139, PMID:26795593, PMID:27185474, PMID:28492532, PMID:28708303, PMID:28781879, PMID:29590070, PMID:30311386, PMID:32581362 NCBI chr 3:123,807,911...123,841,797
Ensembl chr 3:123,807,952...123,841,797 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          Nervous System Heredodegenerative Disorders 1954
            pantothenate kinase-associated neurodegeneration 4
              Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          brain disease 8370
            cerebral degeneration 278
              neuroaxonal dystrophy 32
                neurodegeneration with brain iron accumulation 14
                  pantothenate kinase-associated neurodegeneration 4
                    Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration 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.