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.
An autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life. Pathologic findings include axonal swelling and spheroid bodies in the central nervous system. (OMIM)
DNA:deletions, missense mutations, nonsense mutation: exon:multiple ClinVar Annotator: match by term: Infantile neuroaxonal dystrophy ClinVar Annotator: match by term: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A ClinVar Annotator: match by term: PLA2G6-associated neurodegeneration