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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:Normal Tension Glaucoma
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Accession:DOID:9001062 term browser browse the term
Synonyms:exact_synonym: NPG;   NTG;   Normal Tension Glaucomas
 related_synonym: Normal Pressure Glaucoma, Susceptibility To;   Normal Tension Glaucoma, Susceptibility To
 primary_id: OMIM:606657
 alt_id: RDO:0009042
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Normal Tension Glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase susceptibility ISO DNA:polymorphism:intron:IVS8+32T>C (human)
DNA:SNPs, haplotype:intron:IVS8+4C>T, IVS8+32T>C (human)
DNA:polymorphism:intron:IVS8+4C>T (human)
DNA:splice-site mutations, deletion, missense mutation:introns, exon:multiple
ClinVar Annotator: match by term: GLAUCOMA, NORMAL PRESSURE, SUSCEPTIBILITY TO
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:25741868, PMID:17188046, PMID:12073024, PMID:11810296, PMID:19969356 RGD:7800685, RGD:7800687, RGD:7800710, RGD:7800712 NCBI chr11:74,717,600...74,793,902
Ensembl chr11:74,720,254...74,793,803
JBrowse link
G Optn optineurin susceptibility ISO ClinVar Annotator: match by term: Glaucoma, normal tension, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:11834836 PMID:11978762 PMID:12208142 PMID:15761120 PMID:16619239 PMID:25741868 NCBI chr17:77,167,700...77,218,374
Ensembl chr17:77,167,740...77,218,389
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    sensory system disease 5580
      eye disease 2720
        glaucoma 142
          Normal Tension Glaucoma 2
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      cardiovascular system disease 4489
        vascular disease 3412
          artery disease 2387
            hypertension 1506
              ocular hypertension 158
                glaucoma 142
                  Normal Tension Glaucoma 2
paths to the root