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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


show annotations for term's descendants           Sort by:
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 chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    sensory system disease 7326
      eye disease 3695
        lens disease 521
          cataract 511
            Isolated Microphthalmia with Cataract 4 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        Neurologic Manifestations 10417
          sensory system disease 7326
            eye disease 3695
              Eye Abnormalities 811
                microphthalmia 229
                  isolated microphthalmia 104
                    Isolated Microphthalmia with Cataract 4 1
paths to the root