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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 18
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Accession:DOID:0110238 term browser browse the term
Definition:A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. (DO)
Synonyms:exact_synonym: CATC2;   CTRCT18;   autosomal recessive congenital cataract 2;   cataract 18 autosomal recessive
 primary_id: MESH:C535337
 alt_id: OMIM:610019
For additional species annotation, visit the Alliance of Genome Resources.


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cataract 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fyco1 FYVE and coiled-coil domain autophagy adaptor 1 ISO ClinVar Annotator: match by OMIM:610019
ClinVar Annotator: match by term: Cataract, autosomal recessive congenital 2
ClinVar Annotator: match by term: Cataract 18
OMIM
ClinVar
PMID:9536098 PMID:11519376 PMID:17576681 PMID:21636066 PMID:25741868 More... NCBI chr 8:123,412,105...123,479,315
Ensembl chr 8:123,412,112...123,479,021
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        lens disease 219
          cataract 212
            cataract 18 1
Path 2
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          monogenic disease 7128
            autosomal genetic disease 6276
              autosomal recessive disease 3444
                cataract 18 1
paths to the root