Bothnia retinal dystrophy

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Echinobase

Summary

Literature (0)

DOID:0050683 - Bothnia retinal dystrophy

Disease Ontology 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.

Synonyms: Vasterbotten dystrophy

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:607475 - bothnia retinal dystrophy

MIM:607475 - bothnia retinal dystrophy

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): fundus dystrophy (is_a)