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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
Definition:A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. (OMIM)
Synonyms:exact_synonym: MSPKA
 primary_id: OMIM:251750
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 IAGP OMIM NCBI chr14:74,498,183...74,612,593
Ensembl chr14:74,498,183...74,612,378
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20257
    sensory system disease 6161
      eye disease 3072
        corneal disease 214
          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 20257
    disease of anatomical entity 18858
      cardiovascular system disease 4041
        vascular disease 2922
          artery disease 1876
            hypertension 941
              ocular hypertension 167
                glaucoma 151
                  Microspherophakia 1
                    Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
paths to the root