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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
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Accession:DOID:9001251 term browser browse the term
Synonyms:primary_id: MESH:C563255;   RDO:0012580
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Microspherophakia 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 ClinVar Annotator: match by term: Microspherophakia ClinVar PMID:19361779, PMID:20179738, PMID:20617341, PMID:21081970, PMID:22025892, PMID:25741868, PMID:28492532 NCBI chr 6:108,500,114...108,596,653
Ensembl chr 6:108,500,112...108,596,569
JBrowse link
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 16096
    sensory system disease 5163
      eye disease 2592
        corneal disease 184
          Microspherophakia 1
            Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
            Microspherophakia with Hernia 0
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      cardiovascular system disease 4478
        vascular disease 3410
          artery disease 2367
            hypertension 1499
              ocular hypertension 161
                glaucoma 145
                  Microspherophakia 1
                    Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
                    Microspherophakia with Hernia 0
paths to the root

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