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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 19 multiple types
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Accession:DOID:0110263 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. (DO)
Synonyms:exact_synonym: CATARACT 19;   CTRCT19
 primary_id: OMIM:615277
 xref: ICD10CM:Q12.0
For additional species annotation, visit the Alliance of Genome Resources.



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cataract 19 multiple types term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lim2 lens intrinsic membrane protein 2 ISO ClinVar Annotator: match by term: Cataract 19 multiple types OMIM
ClinVar
PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28450710 More... NCBI chr 1:93,837,597...93,843,769
Ensembl chr 1:93,837,597...93,843,769
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    sensory system disease 6469
      eye disease 3172
        lens disease 310
          cataract 305
            cataract 19 multiple types 1
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                cataract 19 multiple types 1
paths to the root