Term Name: enhanced S-cone syndrome 2
Synonyms:
Definition: A retinal disease that is characterized by an increased number of cones in the retina, primarily those expressing S-cone opsins that has_material_basis_in compound heterozygous and homozygous mutation in the NRL gene on chromosome 14q11.
Ontology: Human Disease [DOID:0061232]   ( DOID:0061232 )

Relationships
is a type of: enhanced S-cone syndrome