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ONTOLOGY REPORT - ANNOTATIONS
Term:congenital stationary night blindness 1C
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Accession:DOID:0110867 term browser browse the term
Definition:A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. (DO)
Synonyms:exact_synonym: CSNB, complete, autosomal recessive;   CSNB1C;   congenital stationary night blindness 1C autosomal recessive;   congenital stationary night blindness, type 1C
 primary_id: MESH:C567704
 alt_id: OMIM:613216;   RDO:0009789;   RDO:0015700
For additional species annotation, visit the Alliance of Genome Resources.

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congenital stationary night blindness 1C term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc24a1 solute carrier family 24 member 1 JBrowse link 8 70,409,683 70,438,352 RGD:8554872
G Trpm1 transient receptor potential cation channel, subfamily M, member 1 JBrowse link 1 124,983,391 125,101,759 RGD:7240710
RGD:8554872
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                congenital stationary night blindness 1C 2
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              Vision Disorders 145
                night blindness 28
                  hereditary night blindness 23
                    congenital stationary night blindness 23
                      congenital stationary night blindness 1C 2
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