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 cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. (DO)
Synonyms:
exact_synonym:
ADULT i BLOOD GROUP WITH OR WITHOUT CONGENITAL CATARACT; Adult i Blood Group with Congenital Cataract; CTRCT13; GCNT2-RELATED CONDITION; adult i blood group phenotype
narrow_synonym:
Adult i Blood Group without Congenital Cataract; adult i phenotype without cataract
ClinVar Annotator: match by term: ADULT i BLOOD GROUP PHENOTYPE | ClinVar Annotator: match by term: Adult i blood group with or without congenital cataract | ClinVar Annotator: match by term: Blood group, I system | ClinVar Annotator: match by term: Cataract 13 with adult I phenotype | ClinVar Annotator: match by term: GCNT2-related condition