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RGD DISEASE ONTOLOGY - ANNOTATIONS

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.

Term:Glaucoma 1, Open Angle, P
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Accession:DOID:9000417 term browser browse the term
Definition:A hereditary, autosomal dominant form of glaucoma that is characterized by cupping of the optic nerve head and visual field defects but no increase in intraocular pressure. It primarily affects younger patients and is associated with a 300 kb duplication in the q region of chromosome 12 (12q14) (MESH)
Synonyms:exact_synonym: GLC1P;   pseudoglaucoma
 primary_id: MESH:C566748
 alt_id: OMIM:177700
For additional species annotation, visit the Alliance of Genome Resources.



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Glaucoma 1, Open Angle, P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Glaucoma 1, open angle, P ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    sensory system disease 6410
      eye disease 2936
        Hereditary Eye Diseases 758
          Glaucoma 1, Open Angle, P 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      cardiovascular system disease 4842
        vascular disease 3616
          artery disease 2522
            hypertension 1575
              ocular hypertension 158
                glaucoma 142
                  open-angle glaucoma 68
                    primary open angle glaucoma 43
                      Glaucoma 1, Open Angle, P 1
paths to the root