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Metadata
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

OMIM:607475

Synonyms

Vasterbotten dystrophy [EXACT]

Parent Relationships

is_a fundus dystrophy

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