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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
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 16 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by OMIM:613763
ClinVar Annotator: match by term: Cataract 16, multiple types
OMIM
ClinVar
PMID:1560021, PMID:11013455, PMID:11577372, PMID:16483541, PMID:16505043, PMID:16793013, PMID:16877416, PMID:17116488, PMID:19461931, PMID:20171888, PMID:21920752, PMID:22106715, PMID:22995991, PMID:23194663, PMID:23299917, PMID:24033266, PMID:25208129, PMID:25741868, PMID:26265630, PMID:26467025, PMID:26694549, PMID:26961874, PMID:28492532, PMID:28690483, PMID:28798025 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16042
    sensory system disease 5231
      eye disease 2663
        lens disease 222
          cataract 215
            cataract 16 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16042
    Developmental Diseases 9538
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8372
        genetic disease 7872
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                cataract 16 multiple types 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.