FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Oguchi disease-1
Synonyms
Definitions

A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.

ID

http://purl.obolibrary.org/obo/DOID_0110712

definition

A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Oguchi disease-1

prefixIRI

DOID:0110712

prefLabel

Oguchi disease-1

subClassOf

http://purl.obolibrary.org/obo/DOID_0050534

http://purl.obolibrary.org/obo/DOID_0050737

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