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.
CPHD4; Short Stature, Pituitary And Cerebellar Defects, And Small Sella Turcica; combined pituitary hormone deficiency with or without cerebellar defects
ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4 ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects
ClinVar Annotator: match by OMIM:262700 ClinVar Annotator: match by term: Pituitary hormone deficiency, combined 4 ClinVar Annotator: match by term: Short stature, pituitary and cerebellar defects and small sella turcica ClinVar Annotator: match by term: Pituitary hormone deficiency, combined with or without cerebellar defects