Metadata | |
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ID | DOID:0081449 |
Name | cone-rod dystrophy 24 |
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/ |
Xrefs | |
Parent Relationships |
is_a autosomal dominant disease is_a cone-rod dystrophy |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |