FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:enhanced S-cone syndrome
go back to main search page
Accession:DOID:0090059 term browser browse the term
Definition:A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the NR2E3 gene on chromosome 15q23. (DO)
Synonyms:exact_synonym: ESCS
 narrow_synonym: FAVRE HYALOIDEORETINAL DEGENERATION;   GOLDMANN-FAVRE SYNDROME;   RETINOSCHISIS WITH EARLY HEMERALOPIA
 broad_synonym: NR2E3-RELATED DISORDER;   NR2E3-RELATED DISORDERS
 primary_id: MESH:C564835;   RDO:0013662
 alt_id: OMIM:268100
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
enhanced S-cone syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nr2e3 nuclear receptor subfamily 2, group E, member 3 JBrowse link 8 64,797,518 64,801,587 RGD:7240710
RGD:8554872
G Nrl neural retina leucine zipper JBrowse link 15 34,197,115 34,201,408 RGD:8554872
RGD:13592920
G Prph2 peripherin 2 JBrowse link 9 16,085,933 16,386,176 RGD:8554862

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      enhanced S-cone syndrome 3
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              retinal disease 704
                retinal degeneration 409
                  enhanced S-cone syndrome 3
paths to the root