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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;   RDO:0015133
 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, congenital nuclear, autosomal recessive 3 ClinVar PMID:17460281, PMID:20565250, PMID:25741868, PMID:28492532 NCBI chr12:50,407,843...50,414,434
Ensembl chr12:50,407,843...50,414,432
JBrowse link
G Crybb1 crystallin, beta B1 ISO ClinVar Annotator: match by term: Cataract, congenital nuclear, autosomal recessive 3
ClinVar Annotator: match by OMIM:611544
OMIM
ClinVar
PMID:12360425, PMID:16110300, PMID:17460281, PMID:20565250, PMID:21972112, PMID:25741868, PMID:28492532 NCBI chr12:50,390,939...50,404,550
Ensembl chr12:50,390,940...50,404,550
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        Hereditary Eye Diseases 572
          cataract 17 multiple types 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lens disease 220
              cataract 213
                cataract 17 multiple types 2
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.