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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 with Cataract 4
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Accession:DOID:9002474 term browser browse the term
Synonyms:exact_synonym: MCOPCT4
 primary_id: MESH:C566480

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Isolated Microphthalmia with Cataract 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRYBA4 crystallin beta A4 ISO ClinVar Annotator: match by term: Microphthalmia, isolated, with cataract 4 ClinVar PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr19:9,491,105...9,528,986 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    sensory system disease 6524
      eye disease 3344
        lens disease 412
          cataract 402
            Isolated Microphthalmia with Cataract 4 1
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      nervous system disease 12971
        Neurologic Manifestations 9422
          sensory system disease 6524
            eye disease 3344
              Eye Abnormalities 768
                microphthalmia 205
                  isolated microphthalmia 102
                    Isolated Microphthalmia with Cataract 4 1
paths to the root