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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:26200341, PMID:29016354 NCBI chr20:12,844,522...12,870,474
Ensembl chr20:12,842,884...12,870,497
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      eye disease 2665
        lens disease 222
          cataract 215
            cataract 44 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal recessive disease 2602
                cataract 44 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.