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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


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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
ISS		 ClinVar Annotator: match by term: Congenital stationary night blindness 1F
OMIM:615058		 OMIM
ClinVar
MouseDO		 PMID:22673519 PMID:23246293 PMID:25741868 PMID:28492532 NCBI chr 2:218,337,215...218,360,318
Ensembl chr 2:218,337,819...218,357,307 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital stationary night blindness 28
        congenital stationary night blindness 1F 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13345
      Signs and Symptoms 10821
        Neurologic Manifestations 10055
          sensory system disease 6961
            eye disease 3492
              Vision Disorders 196
                night blindness 31
                  hereditary night blindness 28
                    congenital stationary night blindness 28
                      congenital stationary night blindness 1F 1
paths to the root