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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: MIM:611544


show annotations for term's descendants           Sort by:
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:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cataract 17 multiple types		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 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 19047
    sensory system disease 7252
      eye disease 3729
        Hereditary Eye Diseases 1120
          cataract 17 multiple types 2
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        Neurologic Manifestations 10336
          sensory system disease 7252
            eye disease 3729
              lens disease 520
                cataract 510
                  cataract 17 multiple types 2
paths to the root