Metadata | |
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ID | DOID:0050683 |
Name | Bothnia retinal dystrophy |
Definition | A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. https://www.ncbi.nlm.nih.gov/pubmed/11176989, https://www.omim.org/entry/607475 |
Xrefs | |
Synonyms |
Vasterbotten dystrophy [EXACT] |
Parent Relationships |
is_a fundus dystrophy |