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congenital stationary night blindness 1D

http://purl.obolibrary.org/obo/DOID_0110868

A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

congenital stationary night blindness 1D

Synonyms

CSNB1D
congenital stationary night blindness 1D autosomal recessive

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disease_ontology

DOID:0110868

Term relations

Subclass of:

autosomal recessive disease
congenital stationary night blindness
has material basis in some autosomal recessive inheritance