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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 46 juvenile-onset
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Accession:DOID:0110243 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: CTRCT46;   cataract, Hutterite type;   juvenilae cataract Hutterite type;   juvenile cataract, Hutterite type;   juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy
 xref: MESH:C538286;   MONDO:0008925;   OMIM:212500


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cataract 46 juvenile-onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Cataract 46 juvenile-onset
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:4061486 PMID:23806086 PMID:23863954 PMID:24088041 PMID:26788539 More... NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        lens disease 456
          cataract 446
            cataract 46 juvenile-onset 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              lens disease 456
                cataract 446
                  cataract 46 juvenile-onset 1
paths to the root