OBO ID: DOID:0060869
Term Name: late-onset retinal degeneration Search Ontology:
Synonyms:
  • autosomal dominant late-onset retinal degeneration
  • LORD
Definition: A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. https://www.ncbi.nlm.nih.gov/pubmed/12944416
References:
Ontology: Human Disease   ( DOID:0060869 )
Relationships
is a type of:
OTHER late-onset retinal degeneration PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
C1QTNF5 Retinal degeneration, late-onset, autosomal dominant 605670
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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