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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;   FYCO1-RELATED CONDITION;   autosomal recessive congenital cataract 2;   cataract 18 autosomal recessive
 primary_id: MESH:C535337
 alt_id: MIM:610019



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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 term: CATARACT 18, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Cataract 18 | ClinVar Annotator: match by term: FYCO1-related condition
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:11519376 PMID:17576681 PMID:21636066 PMID:25741868 More... NCBI chr 8:132,289,538...132,356,810
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 19141
    sensory system disease 7375
      eye disease 3722
        lens disease 556
          cataract 545
            cataract 18 1
Path 2
Term Annotations click to browse term
  disease 19141
    Pathological Conditions, Signs and Symptoms 13624
      Signs and Symptoms 11214
        Neurologic Manifestations 10450
          sensory system disease 7375
            eye disease 3722
              lens disease 556
                cataract 545
                  cataract 18 1
paths to the root