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Human Disease
cone-rod dystrophy 22
- Term ID
- DOID:0081448
- Synonyms
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- Definition
- A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. https://pubmed.ncbi.nlm.nih.gov/33077892/
- References
- Ontology
- Human Disease ( DOID:0081448 )
- is a type of
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