Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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
Synonyms:exact_synonym: MSPKA
 primary_id: OMIM:251750;   RDO:9000675
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 chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    sensory system disease 5162
      eye disease 2592
        corneal disease 184
          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 16103
    disease of anatomical entity 15351
      cardiovascular system disease 4483
        vascular disease 3414
          artery disease 2363
            hypertension 1493
              ocular hypertension 161
                glaucoma 145
                  Microspherophakia 1
                    Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.