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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:Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
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Accession:DOID:9003623 term browser browse the term
Synonyms:primary_id: MESH:C565949;   RDO:0014449
For additional species annotation, visit the Alliance of Genome Resources.


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Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox2 SRY-box transcription factor 2 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Optic nerve hypoplasia and abnormalities of the central nervous system
ClinVar PMID:15578584, PMID:15812812, PMID:16145681, PMID:16932809, PMID:17219395, PMID:19921648, PMID:20803647, PMID:27427475 NCBI chr 2:121,165,137...121,167,545
Ensembl chr 2:121,165,137...121,167,545
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    sensory system disease 5163
      eye disease 2592
        optic nerve disease 240
          Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            cranial nerve disease 472
              optic nerve disease 240
                Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 1
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.