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 vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. (DO)
Synonyms:
exact_synonym:
AVED; Friedreich ataxia phenotype with selective vitamin E deficiency; Friedreich-like ataxia; Friedreich-like ataxia with isolated vitamin E deficiency; Friedreich-like ataxia with selective vitamin E deficiency; VED; ataxia and retinitis pigmentosa with isolated vitamin E deficiency; ataxia with isolated vitamin E deficiency; ataxia with vitamin E deficiency; familial isolated vitamin E deficiency
ClinVar Annotator: match by term: Familial isolated deficiency of vitamin E | ClinVar Annotator: match by term: Friedreich-like ataxia with selective vitamin E deficiency