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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;   OMIM: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 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686 		JBrowse link
G Cryab crystallin, alpha B ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613763
ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types		 OMIM
CTD
MouseDO
ClinVar		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:11577372 PMID:16483541 More... NCBI chr 8:51,093,441...51,099,161
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 21128
    sensory system disease 6940
      eye disease 3477
        lens disease 456
          cataract 446
            cataract 16 multiple types 2
Path 2
Term Annotations click to browse term
  disease 21128
    Pathological Conditions, Signs and Symptoms 13331
      Signs and Symptoms 10807
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              lens disease 456
                cataract 446
                  cataract 16 multiple types 2
paths to the root