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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 4 multiple types
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Accession:DOID:0110234 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. (DO)
Synonyms:exact_synonym: CACA;   CCA3;   CTRCT4;   PCC;   cataract 4;   cataract 4, multiple types, with or without microcornea;   congenital blue dot type cataract, 3;   congenital cataract, cerulean type 3;   nonnuclear polymorphic congenital cataract;   punctate cataract, progressive juvenile-onset
 primary_id: OMIM:115700
 alt_id: MESH:C563819;   MESH:C565131
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
cataract 4 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Cataract 4
ClinVar Annotator: match by term: CATARACT 4, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA
ClinVar Annotator: match by OMIM:115700
OMIM
ClinVar
PMID:9927684 PMID:10521291 PMID:10688888 PMID:10915766 PMID:11371638 More... NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067
JBrowse link
Crystalline Aculeiform Cataract term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Aculeiform cataract ClinVar PMID:9927684 PMID:10688888 PMID:11371638 PMID:12011157 PMID:12676897 More... NCBI chr 9:66,442,054...66,443,668
Ensembl chr 9:66,442,054...66,444,067
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        lens disease 220
          cataract 213
            cataract 4 multiple types 1
              Crystalline Aculeiform Cataract 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                cataract 4 multiple types 1
                  Crystalline Aculeiform Cataract 1
paths to the root