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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 34 multiple types
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Accession:DOID:0110230 term browser browse the term
Definition:A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. (DO)
Synonyms:exact_synonym: CATC3;   CTRCT34;   autosomal recessive congenital cataract 3;   cataract 34 multiple types with or without microcornea
 primary_id: MESH:C567835
 alt_id: OMIM:612968;   RDO:0012056

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cataract 34 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXE3 forkhead box E3 ISO ClinVar Annotator: match by term: CATARACT 34, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA | ClinVar Annotator: match by term: Cataract 34 multiple types ClinVar
OMIM		 PMID:17893665 PMID:19708017 PMID:20140963 PMID:24033266 PMID:25741868 More... NCBI chr20:85,502,938...85,505,158
Ensembl chr20:85,504,126...85,505,076 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15273
    sensory system disease 6524
      eye disease 3344
        lens disease 412
          cataract 402
            cataract 34 multiple types 1
Path 2
Term Annotations click to browse term
  disease 15273
    disease of anatomical entity 14893
      nervous system disease 12971
        Neurologic Manifestations 9422
          sensory system disease 6524
            eye disease 3344
              lens disease 412
                cataract 402
                  cataract 34 multiple types 1
paths to the root