Search Ontology:
Human Disease

Leber congenital amaurosis 6

Term ID
DOID:0110329
Synonyms
  • LCA6
Definition
A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. https://www.ncbi.nlm.nih.gov/pubmed/11283794
References
Ontology
Human Disease   ( DOID:0110329 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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