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.
BIODEFECTIVE GROWTH HORMONE; Nanism due to growth hormone qualitative anomaly; Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin; Pituitary dwarfism 4; Pituitary dwarfism with normal immunoreactive growth hormone
DNA:point mutation:exon:p.D122G (human) CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pituitary dwarfism with normal immunoreactive growth hormone and low somatomedin