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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 6 multiple types
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Accession:DOID:0110229 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. (DO)
Synonyms:exact_synonym: ARCC2;   CTPP1;   CTRCT6;   EPHA2-RELATED CONDITION;   age-cortical cataract 2;   age-related cortical cataract 2;   age-related cortical cataract 6;   posterior polar cataract 1
 broad_synonym: age-related cortical cataract
 primary_id: MESH:C535339
 alt_id: MIM:116600



show annotations for term's descendants           Sort by:
cataract 6 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef19 Rho guanine nucleotide exchange factor 19 ISO ClinVar Annotator: match by term: Cataract 6 multiple types ClinVar PMID:19649315 PMID:22167091 PMID:25148791 PMID:28492532 NCBI chr 5:153,536,038...153,554,203
Ensembl chr 5:153,536,013...153,554,203
JBrowse link
G Epha2 Eph receptor A2 ISO
ISS
OMIM:116600
ClinVar Annotator: match by term: Age-related cortical cataract | ClinVar Annotator: match by term: CATARACT, AGE-RELATED CORTICAL, 2 | ClinVar Annotator: match by term: Cataract 6 multiple types | ClinVar Annotator: match by term: EPHA2-related condition
OMIM
MouseDO
ClinVar
PMID:9536098 PMID:12167657 PMID:15965161 PMID:16051609 PMID:16199547 More... NCBI chr 5:153,605,644...153,634,115
Ensembl chr 5:153,605,644...153,634,117
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    sensory system disease 7375
      eye disease 3722
        lens disease 556
          cataract 545
            cataract 6 multiple types 2
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              lens disease 556
                cataract 545
                  cataract 6 multiple types 2
paths to the root