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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
 primary_id: MESH:C538286
 alt_id: OMIM:212500
For additional species annotation, visit the Alliance of Genome Resources.


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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 Hutterite type OMIM
ClinVar
PMID:4061486, PMID:23806086, PMID:23863954, PMID:24088041, PMID:26788539, PMID:31061923 NCBI chr20:5,779,742...5,786,213
Ensembl chr20:6,545,083...6,556,350
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          cataract 46 juvenile-onset 1
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            lens disease 220
              cataract 213
                cataract 46 juvenile-onset 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.