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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 17150
    sensory system disease 5599
      eye disease 2728
        corneal disease 201
          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 17150
    disease of anatomical entity 16494
      cardiovascular system disease 4502
        vascular disease 3424
          artery disease 2390
            hypertension 1507
              ocular hypertension 158
                glaucoma 142
                  Microspherophakia 1
                    Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
paths to the root