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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 33
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Accession:DOID:0110264 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. (DO)
Synonyms:exact_synonym: CATARACT 33, MULTIPLE TYPES;   CTRCT33;   cortical cataract 33
 related_synonym: cortical cataract, juvenile-onset
 primary_id: MESH:C566955
 alt_id: MIM:611391


show annotations for term's descendants           Sort by:
cataract 33 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BFSP1 beaded filament structural protein 1 ISO ClinVar Annotator: match by term: Cataract 33 OMIM
ClinVar		 PMID:12454043 PMID:14638724 PMID:17225135 PMID:24281366 PMID:24379646 More... NCBI chr17:25,933,743...25,966,940
Ensembl chr17:25,933,900...25,967,005 		JBrowse link
G ESR1 estrogen receptor 1 ISO RGD PMID:12082175 RGD:734947 NCBI chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		JBrowse link
G PCSK2 proprotein convertase subtilisin/kexin type 2 ISO ClinVar Annotator: match by term: Cataract 33 ClinVar PMID:28492532 NCBI chr17:25,681,424...25,920,690
Ensembl chr17:25,681,197...25,923,004 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15392
    sensory system disease 6893
      eye disease 3543
        lens disease 479
          cataract 469
            cataract 33 3
Path 2
Term Annotations click to browse term
  disease 15392
    Pathological Conditions, Signs and Symptoms 12067
      Signs and Symptoms 10094
        Neurologic Manifestations 9793
          sensory system disease 6893
            eye disease 3543
              lens disease 479
                cataract 469
                  cataract 33 3
paths to the root