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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:congenital stationary night blindness 1F
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Accession:DOID:0110864 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: CSNB1F;   congenital stationary night blindness 1F autosomal recessive;   congenital stationary night blindness, type 1F
 primary_id: OMIM:615058
For additional species annotation, visit the Alliance of Genome Resources.


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congenital stationary night blindness 1F term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrit3 leucine-rich repeat, Ig-like and transmembrane domains 3 ISO ClinVar Annotator: match by OMIM:615058
ClinVar Annotator: match by term: Congenital stationary night blindness, type 1F
OMIM
ClinVar
PMID:22673519 PMID:23246293 PMID:28492532 NCBI chr 2:235,213,017...235,232,894
Ensembl chr 2:235,213,027...235,232,530
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital stationary night blindness 25
        congenital stationary night blindness 1F 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Vision Disorders 159
              night blindness 32
                hereditary night blindness 25
                  congenital stationary night blindness 25
                    congenital stationary night blindness 1F 1
paths to the root