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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:Nanophthalmos 1
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Accession:DOID:9000486 term browser browse the term
Synonyms:exact_synonym: Microphthalmos, Simple, Autosomal Dominant;   NNO1;   Nanophthalmia 1;   Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma;   Nanophthalmos, Autosomal Dominant
 primary_id: MESH:C563983
 alt_id: OMIM:600165
For additional species annotation, visit the Alliance of Genome Resources.


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Nanophthalmos 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myrf myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr 1:226,260,558...226,292,650
Ensembl chr 1:226,260,558...226,292,480
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        glaucoma 139
          angle-closure glaucoma 23
            Nanophthalmos 1 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      cardiovascular system disease 4370
        vascular disease 3315
          artery disease 2363
            hypertension 1494
              ocular hypertension 155
                glaucoma 139
                  angle-closure glaucoma 23
                    Nanophthalmos 1 1
paths to the root