cone-rod dystrophy 24

Term ID

DOID:0081449

Synonyms

Definition

A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. https://pubmed.ncbi.nlm.nih.gov/35947183/

References

• MIM:620342

Ontology

Human Disease   ( DOID:0081449 )