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 retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)
Synonyms:
exact_synonym:
RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM; RP WITH OR WITHOUT PPRPE; RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM; RP12
ClinVar Annotator: match by term: Retinitis pigmentosa 12 ClinVar Annotator: match by term: RETINITIS PIGMENTOSA WITH OR WITHOUT PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM ClinVar Annotator: match by OMIM:600105