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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 44
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Accession:DOID:0110267 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: CTRCT44;   congenital cataract-44;   total early-onset cataract
 primary_id: OMIM:616509
 xref: ORDO:98994
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 44 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lss lanosterol synthase ISO ClinVar Annotator: match by term: Cataract 44 ClinVar
OMIM
PMID:25741868 PMID:26200341 PMID:29016354 NCBI chr20:12,091,138...12,118,858
Ensembl chr20:12,092,774...12,118,762
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 0
    sensory system disease 5700
      eye disease 2776
        lens disease 226
          cataract 220
            cataract 44 1
Path 2
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9553
        genetic disease 9078
          monogenic disease 7230
            autosomal genetic disease 6357
              autosomal recessive disease 3554
                cataract 44 1
paths to the root