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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 IAGP ClinVar Annotator: match by term: Cataract 17 multiple types ClinVar PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr22:26,590,220...26,630,669
Ensembl chr22:26,621,963...26,630,669 		JBrowse link
G CRYBB1 crystallin beta B1 IAGP
EXP		 ClinVar Annotator: match by term: Cataract 17 multiple types
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12360425 PMID:16110300 PMID:17460281 PMID:17576681 More... NCBI chr22:26,599,278...26,618,027
Ensembl chr22:26,599,278...26,618,027 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97419
    sensory system disease 21102
      eye disease 7770
        Hereditary Eye Diseases 1662
          cataract 17 multiple types 2
Path 2
Term Annotations click to browse term
  disease 97419
    disease of anatomical entity 91051
      nervous system disease 53072
        Neurologic Manifestations 32000
          sensory system disease 21102
            eye disease 7770
              lens disease 834
                cataract 813
                  cataract 17 multiple types 2
paths to the root