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Human Disease

cone-rod dystrophy 22

Term ID
DOID:0081448
Synonyms
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 )
Relationships
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Genes Involved
Zebrafish Models