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 primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. (DO)
Synonyms:
exact_synonym:
GLC1A; Glaucoma 1, Open Angle, A; glaucoma of childhood
narrow_synonym:
GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE; GLAUCOMA 1, OPEN ANGLE, A, DIGENIC; GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1; GLC1L; JOAG1 GLAUCOMA 1, OPEN ANGLE, L
ClinVar Annotator: match by term: Glaucoma 1, open angle, A | ClinVar Annotator: match by term: Glaucoma of childhood | ClinVar Annotator: match by term: MYOC-Related Disorders | ClinVar Annotator: match by term: Primary open angle glaucoma juvenile onset 1 DNA:nonsense mutation, missense mutation, snps:exon, intron, 3' utr:multiple (human)