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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
ClinVar Annotator: match by OMIM:615277
ClinVar Annotator: match by term: Cataract 19, multiple types
OMIM
ClinVar
PMID:11917274 PMID:18596884 PMID:21386927 PMID:25741868 PMID:28450710 PMID:28492532 NCBI chr 1:98,495,082...98,501,248
Ensembl chr 1:98,495,082...98,501,249
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        lens disease 202
          cataract 195
            cataract 19 multiple types 1
Path 2
Term Annotations click to browse term
  disease 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal recessive disease 3224
                cataract 19 multiple types 1
paths to the root