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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


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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 1:206,854,175...206,886,276
Ensembl chr 1:206,854,175...206,886,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        microphthalmia 214
          nanophthalmos 5
            Nanophthalmos 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              Eye Abnormalities 778
                microphthalmia 214
                  nanophthalmos 5
                    Nanophthalmos 1 1
paths to the root