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Metadata
ID DOID:0081448
Name cone-rod dystrophy 22
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/
Xrefs

MIM:619531

Parent Relationships

is_a cone-rod dystrophy

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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