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.
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