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RGD uses the Human Disease Ontology (DO, 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 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 ClinVar Annotator: match by term: CATARACT, CONGENITAL LAMELLAR | ClinVar Annotator: match by term: Cataract 16 multiple types OMIM
PMID:1560021 PMID:11013455 PMID:11577372 PMID:16483541 PMID:16505043 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 18032
    sensory system disease 6469
      eye disease 3172
        lens disease 310
          cataract 305
            cataract 16 multiple types 2
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal dominant disease 5048
                cataract 16 multiple types 2
paths to the root