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Human Disease

Leber congenital amaurosis 16

Term ID
DOID:0110118
Synonyms
  • LCA16
Definition
A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. https://www.ncbi.nlm.nih.gov/pubmed/21763485
References
  • ICD10CM:H35.5
  • MIM:614186
Ontology
Human Disease   ( DOID:0110118 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations