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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:Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma
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Accession:DOID:9006438 term browser browse the term
Synonyms:exact_synonym: MSPKA
 primary_id: OMIM:251750;   RDO:9000675
For additional species annotation, visit the Alliance of Genome Resources.


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Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO OMIM NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    sensory system disease 5201
      eye disease 2608
        corneal disease 197
          megalocornea 2
            Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      cardiovascular system disease 4377
        vascular disease 3313
          artery disease 2373
            hypertension 1501
              ocular hypertension 155
                glaucoma 139
                  Microspherophakia 1
                    Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
paths to the root