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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:isolated microphthalmia 4
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Accession:DOID:0060836 term browser browse the term
Definition:An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)
Synonyms:exact_synonym: MCOP4
 primary_id: MESH:C567757
 alt_id: OMIM:613094


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isolated microphthalmia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GDF6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Isolated microphthalmia 4 OMIM
ClinVar		 PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr 8:92,767,401...92,785,955 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6624
      eye disease 3375
        microphthalmia 204
          isolated microphthalmia 101
            isolated microphthalmia 4 1
Path 2
Term Annotations click to browse term
  disease 17996
    Pathological Conditions, Signs and Symptoms 12035
      Signs and Symptoms 9967
        Neurologic Manifestations 9644
          sensory system disease 6624
            eye disease 3375
              Eye Abnormalities 771
                microphthalmia 204
                  isolated microphthalmia 101
                    isolated microphthalmia 4 1
paths to the root