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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 PMID:12011157 PMID:12676897 PMID:16446699 PMID:17564961 PMID:17724170 PMID:18587492 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21827768 PMID:22995991 PMID:23508780 PMID:23936409 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
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 PMID:16446699 PMID:17724170 PMID:19382745 PMID:19390652 PMID:19668596 PMID:21827768 PMID:22995991 PMID:25403472 PMID:25741868 PMID:26694549 PMID:28450710 PMID:28474685 PMID:28492532 NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    sensory system disease 5285
      eye disease 2714
        lens disease 222
          cataract 215
            cataract 4 multiple types 1
              Crystalline Aculeiform Cataract 1
Path 2
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                cataract 4 multiple types 1
                  Crystalline Aculeiform Cataract 1
paths to the root