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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 30
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Accession:DOID:0110248 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. (DO)
Synonyms:exact_synonym: CATARACT 30, MULTIPLE TYPES;   CTRCT30;   Cataract 30, pulverulent;   Cataract, Nuclear Diffuse Nonprogressive;   Dusty cataract;   cataract Coppock-like
 primary_id: MESH:C566157
 alt_id: OMIM:116300
 xref: ORDO:98984
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 30 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vim vimentin ISO ClinVar Annotator: match by OMIM:116300
ClinVar Annotator: match by term: Cataract 30
ClinVar Annotator: match by term: Cataract 30, multiple types
OMIM
ClinVar
PMID:19126778, PMID:25741868, PMID:26694549, PMID:28450710, PMID:28492532 NCBI chr17:80,882,715...80,891,200
Ensembl chr17:80,882,666...80,891,212
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    sensory system disease 5213
      eye disease 2652
        lens disease 220
          cataract 213
            cataract 30 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                cataract 30 1
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.