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congenital stationary night blindness 1F - Ontology Report - Rat Genome Database

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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
 broad_synonym: LRIT3-related condition
 xref: MIM:615058;   MONDO:0014026

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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		 OMIM:615058
ClinVar Annotator: match by term: Congenital stationary night blindness 1F | ClinVar Annotator: match by term: LRIT3-related condition		 OMIM
MouseDO
ClinVar		 PMID:22673519 PMID:23246293 PMID:24598786 PMID:25741868 PMID:28492532 More... 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 19140
    physical disorder 5202
      congenital stationary night blindness 29
        congenital stationary night blindness 1F 1
Path 2
Term Annotations click to browse term
  disease 19140
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11222
        Neurologic Manifestations 10464
          sensory system disease 7381
            eye disease 3728
              Vision Disorders 202
                night blindness 32
                  hereditary night blindness 29
                    congenital stationary night blindness 29
                      congenital stationary night blindness 1F 1
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