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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 21 multiple types
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Accession:DOID:0110256 term browser browse the term
Definition:A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: CCA4;   CTRCT21;   cataract 21 multiple types, with or without microcornea;   congenital cataract, cerulean type, 4;   pulverulent cataract, juvenile-onset
 primary_id: MESH:C565703
 alt_id: OMIM:610202
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
cataract 21 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dynlrb2 dynein light chain roadblock-type 2 ISO ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar PMID:28492532 NCBI chr19:49,016,919...49,028,400
Ensembl chr19:49,016,891...49,028,404
JBrowse link
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: Cataract 21, multiple types
ClinVar Annotator: match by OMIM:610202
OMIM
ClinVar
PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 PMID:24664492 PMID:24968223 PMID:25741868 PMID:26694549 PMID:28492532 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21, multiple types ClinVar PMID:28492532 NCBI chr19:46,761,353...47,695,247 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17150
    sensory system disease 5599
      eye disease 2728
        lens disease 217
          cataract 210
            cataract 21 multiple types 3
Path 2
Term Annotations click to browse term
  disease 17150
    Developmental Disease 10920
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9451
        genetic disease 8954
          monogenic disease 7122
            autosomal genetic disease 6276
              autosomal dominant disease 4456
                cataract 21 multiple types 3
paths to the root