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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.


show annotations for term's descendants           Sort by:
 
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 16108
    syndrome 6992
      Cataract Microcornea Syndrome 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lens disease 220
              cataract 213
                Cataract Microcornea Syndrome 2
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.