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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:Microphthalmia/Coloboma 10
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Accession:DOID:9000743 term browser browse the term
Synonyms:exact_synonym: MCOPCB10;   isolated microphthalmia and/or coloboma 10;   isolated microphthalmia with coloboma 10
 primary_id: OMIM:616428
 alt_id: OMIA:002151


show annotations for term's descendants           Sort by:
Microphthalmia/Coloboma 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBP4 retinol binding protein 4 ISO ClinVar Annotator: match by term: MICROPHTHALMIA/COLOBOMA 10 | ClinVar Annotator: match by term: Microphthalmia, isolated, with coloboma 10 OMIM
ClinVar		 PMID:25741868 PMID:25910211 NCBI chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6626
      eye disease 3377
        Eye Abnormalities 771
          coloboma 122
            Isolated Microphthalmia with Coloboma 10
              Microphthalmia/Coloboma 10 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            eye disease 3377
              Eye Abnormalities 771
                microphthalmia 204
                  isolated microphthalmia 101
                    Isolated Microphthalmia with Coloboma 10
                      Microphthalmia/Coloboma 10 1
paths to the root