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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 34 multiple types
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Accession:DOID:0110230 term browser browse the term
Definition:A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. (DO)
Synonyms:exact_synonym: CATC3;   CTRCT34;   autosomal recessive congenital cataract 3;   cataract 34 multiple types with or without microcornea
 primary_id: MESH:C567835
 alt_id: OMIM:612968;   RDO:0012056
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 34 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxe3 forkhead box E3 ISO ClinVar Annotator: match by term: Cataract 34 multiple types OMIM
ClinVar
PMID:17893665 PMID:27218149 PMID:28492532 PMID:34046667 NCBI chr 5:128,445,594...128,446,454
Ensembl chr 5:128,445,594...128,446,454
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    sensory system disease 6469
      eye disease 3172
        lens disease 310
          cataract 305
            cataract 34 multiple types 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        sensory system disease 6469
          eye disease 3172
            lens disease 310
              cataract 305
                cataract 34 multiple types 1
paths to the root