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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



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 DNA:frameshift mutation:CDS:p.H1816PfsX28 (human)
ClinVar Annotator: match by term: Microspherophakia
ClinVar
RGD
PMID:19361779 PMID:19656777 PMID:20179738 PMID:20617341 PMID:21081970 More... RGD:156451653 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
OMIM
CTD
ClinVar
PMID:19361779 PMID:19656777 PMID:20179738 PMID:21081970 PMID:22025892 More... NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        glaucoma 170
          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 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              lens disease 456
                lens subluxation 8
                  Ectopia Lentis 7
                    Microspherophakia 1
                      Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma 1
                      Microspherophakia with Hernia 0
paths to the root