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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 17 multiple types
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Accession:DOID:0110270 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. (DO)
Synonyms:exact_synonym: CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA;   CATCN3;   CTRCT17;   Cataract, Congenital Nuclear, Autosomal Recessive 3
 primary_id: MESH:C566923
 alt_id: OMIM:611544
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 17 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryba4 crystallin, beta A4 ISO ClinVar Annotator: match by term: Cataract 17 multiple types ClinVar PMID:12360425 PMID:16110300 PMID:17460281 PMID:20565250 PMID:21972112 More... NCBI chr12:44,378,734...44,393,226
Ensembl chr12:44,378,737...44,393,221
JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract 17 multiple types OMIM
ClinVar
PMID:12360425 PMID:16110300 PMID:17460281 PMID:20565250 PMID:21972112 More... NCBI chr12:44,369,734...44,383,344
Ensembl chr12:44,369,735...44,383,344
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    sensory system disease 6555
      eye disease 3185
        Hereditary Eye Diseases 757
          cataract 17 multiple types 2
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        genetic disease 11085
          monogenic disease 8558
            autosomal genetic disease 7555
              autosomal recessive disease 4613
                cataract 17 multiple types 2
paths to the root