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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:anterior ischemic optic neuropathy
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Accession:DOID:12010 term browser browse the term
Definition:Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)
Synonyms:exact_synonym: Ischemic Optic Neuropathies;   Optic Nerve Ischemia;   Optic Nerve Ischemias;   Posterior Ischemic Optic Neuropathy;   ischemic optic neuropathy
 primary_id: MESH:D018917;   RDO:0007244
 xref: GARD:9790;   ICD10CM:H47.01;   ICD9CM:377.41
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Becn1 beclin 1 IEP protein:decreased expression:retina RGD PMID:21490676 RGD:6483070 NCBI chr10:89,209,944...89,225,297
Ensembl chr10:89,209,940...89,225,297
JBrowse link
G Csf3 colony stimulating factor 3 treatment ISO RGD PMID:24316388 RGD:11039419 NCBI chr10:86,616,785...86,619,160
Ensembl chr10:86,616,785...86,619,157
JBrowse link
G Mt-nd1 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 ISO DNA:snp:cds:m.4132G>A (human) RGD PMID:17454741 RGD:5490236 NCBI chr MT:2,740...3,694
Ensembl chr MT:2,740...3,694
JBrowse link
G Nos3 nitric oxide synthase 3 susceptibility ISO DNA:snp:promoter:g.-786T>C (human) RGD PMID:16633797 RGD:7775040 NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
non-arteritic anterior ischemic optic neuropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme onset ISO DNA:insertion/deletion:intron RGD PMID:21633717 RGD:8548899 NCBI chr10:94,170,766...94,213,831
Ensembl chr10:94,170,766...94,187,822
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:blood: RGD PMID:15206651 RGD:9491785 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G F5 coagulation factor V ISO DNA:missense mutation:cds:p.R506Q (1691G>A) (human) RGD PMID:15043529 RGD:7394764 NCBI chr13:82,479,997...82,535,540
Ensembl chr13:82,479,998...82,535,534
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha susceptibility ISO ClinVar Annotator: match by term: Nonarteritic anterior ischemic optic neuropathy, susceptibility to
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:1693792, PMID:3303030, PMID:6235867, PMID:14711733 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G Itgb3 integrin subunit beta 3 susceptibility ISO DNA:polymorphism: : RGD PMID:20162297 RGD:8693343 NCBI chr10:92,667,869...92,783,413
Ensembl chr10:92,667,869...92,783,410
JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :677C>T(human) RGD PMID:20162297 RGD:8693343 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      cardiovascular system disease 4484
        vascular disease 3415
          anterior ischemic optic neuropathy 10
            arteritic anterior ischemic optic neuropathy 0
            non-arteritic anterior ischemic optic neuropathy 6
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            cranial nerve disease 472
              optic nerve disease 240
                anterior ischemic optic neuropathy 10
                  arteritic anterior ischemic optic neuropathy 0
                  non-arteritic anterior ischemic optic neuropathy 6
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.