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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 4
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Accession:DOID:9008422 term browser browse the term
Synonyms:exact_synonym: NANOPHTHALMIA 4;   NNO4
 primary_id: OMIM:615972
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Nanophthalmos 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tmem98 transmembrane protein 98 ISO ClinVar Annotator: match by term: Nanophthalmos 4 OMIM
ClinVar
PMID:24852644 PMID:26392740 NCBI chr10:68,173,380...68,184,289
Ensembl chr10:68,173,369...68,184,320
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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
        microphthalmia 95
          nanophthalmos 5
            Nanophthalmos 4 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Eye Abnormalities 353
              microphthalmia 95
                nanophthalmos 5
                  Nanophthalmos 4 1
paths to the root