Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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 chr12:84,783,212...84,876,558
Ensembl chr12:84,783,212...84,876,532
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14517
    sensory system disease 5419
      eye disease 2704
        corneal disease 204
          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 14517
    disease of anatomical entity 14115
      cardiovascular system disease 3690
        vascular disease 2692
          artery disease 1709
            hypertension 861
              ocular hypertension 160
                glaucoma 144
                  Microspherophakia 1
                    Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
paths to the root