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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
 broad_synonym: MAF-RELATED CONDITION
 primary_id: MESH:C565703
 alt_id: MIM:610202



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 chr19:44,520,134...44,531,384
Ensembl chr19:44,520,134...44,531,387
JBrowse link
G Maf MAF bZIP transcription factor ISO
ISS
CTD Direct Evidence: marker/mechanism
OMIM:610202
ClinVar Annotator: match by term: CATARACT 21, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 21 multiple types | ClinVar Annotator: match by term: Cataract, congenital, cerulean type, 4
OMIM
CTD
MouseDO
ClinVar
PMID:11772997 PMID:12620964 PMID:16470690 PMID:17982426 PMID:22345400 More... NCBI chr19:60,259,200...60,622,145
Ensembl chr19:43,360,342...43,712,365
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by term: Cataract 21 multiple types ClinVar PMID:28492532 NCBI chr19:59,338,402...60,269,323
Ensembl chr19:42,432,152...43,359,391
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19142
    sensory system disease 7373
      eye disease 3724
        lens disease 557
          cataract 546
            cataract 21 multiple types 3
Path 2
Term Annotations click to browse term
  disease 19142
    Pathological Conditions, Signs and Symptoms 13627
      Signs and Symptoms 11216
        Neurologic Manifestations 10451
          sensory system disease 7373
            eye disease 3724
              lens disease 557
                cataract 546
                  cataract 21 multiple types 3
paths to the root