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 amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)
Synonyms:
exact_synonym:
DCBXA; Dicarboxylic amino aciduria; Dicarboxylicamino Aciduria; Glutamate and aspartate transport defect; dicarboxylicaminoaciduria; glutamate-aspartate transport defect; inborn error of glutamic and aspartate transport
ClinVar Annotator: match by term: Dicarboxylic aminoaciduria | ClinVar Annotator: match by term: Glutamate-aspartate transport defect CTD Direct Evidence: marker/mechanism OMIM:222730