Search Ontology:
Human Disease

Leber congenital amaurosis 13

Term ID
DOID:0110330
Synonyms
  • LCA13
Definition
A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. https://www.ncbi.nlm.nih.gov/pubmed/15258582
References
Ontology
Human Disease   ( DOID:0110330 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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