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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:Cataract Microcornea Syndrome
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Accession:DOID:9003799 term browser browse the term
Synonyms:primary_id: MESH:C538287;   RDO:0004249
For additional species annotation, visit the Alliance of Genome Resources.


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Cataract Microcornea Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja8 gap junction protein, alpha 8 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract microcornea syndrome
CTD
ClinVar
PMID:9497259 PMID:10362609 PMID:10480374 PMID:11846744 PMID:12800976 PMID:14059288 PMID:14627691 PMID:16397066 PMID:16604058 PMID:17724170 PMID:18006672 PMID:18334946 PMID:18334966 PMID:18587493 PMID:19073179 PMID:21174522 PMID:21228318 PMID:23508780 PMID:23555834 PMID:24281366 PMID:24535056 PMID:25003127 PMID:25741868 PMID:26694549 PMID:28392901 PMID:28492532 PMID:29464339 NCBI chr 2:199,050,854...199,052,470
Ensembl chr 2:199,050,854...199,052,470
JBrowse link
G Maf MAF bZIP transcription factor ISO DNA:missense mutations: :p.R299S (c.895C>A), p.K320E (c.958A>G) (human) RGD PMID:19182255 RGD:13204740 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      Cataract Microcornea Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        sensory system disease 5285
          eye disease 2714
            lens disease 222
              cataract 215
                Cataract Microcornea Syndrome 2
paths to the root