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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 16 multiple types
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Accession:DOID:0110250 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. (DO)
Synonyms:exact_synonym: CATARACT, CONGENITAL LAMELLAR;   CTRCT16
 narrow_synonym: CTPP2;   posterior polar cataract 2
 primary_id: MESH:C565134;   MIM:613763


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cataract 16 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Cataract 16 multiple types ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:89,427,834...89,545,886
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Cryab crystallin, alpha B ISO
ISS		 OMIM:613763
ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types		 OMIM
MouseDO
ClinVar		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:11577372 PMID:16483541 More... NCBI chr 8:59,989,885...59,995,532
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        lens disease 557
          cataract 546
            cataract 16 multiple types 2
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              lens disease 557
                cataract 546
                  cataract 16 multiple types 2
paths to the root