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.
DNA:missense mutation:cds:p.R31C (human) DNA:frameshift mutation:cds:c.18-19insA (human) DNA:frameshift mutation, nonsense mutation, missense mutations:multiple (human) CTD Direct Evidence: marker/mechanism OMIM:614841 ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 12 with or without anosmia | ClinVar Annotator: match by term: Isolated GnRH Deficiency
ClinVar Annotator: match by term: Hypogonadotropic hypogonadism 23 with or without anosmia | ClinVar Annotator: match by term: LHB-related condition CTD Direct Evidence: marker/mechanism