Term Name: retinitis pigmentosa 101
Synonyms:
Definition: A retinitis pigmentosa charaterized by macular edema, mild intraretinal pigment migration, and eventual widespread retinal atrophy that has_material_basis_in compound heterozygous or homozygous mutation in the CLN3 gene on chromosome 16p12.
Ontology: Human Disease [DOID:0061299]   ( DOID:0061299 )

Relationships
is a type of: autosomal recessive disease retinitis pigmentosa