Term Name: Zeitz-Han retinal dystrophy
Synonyms:
Definition: A retinal degeneration that is characterized by a variable retinal phenotypes, predominantly described as rod-cone dystrophy with some patients clinically diagnosed as having retinitis pigmentosa, but also including cases of cone-rod and cone dystrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the ubiquitin-associated protein (UBAP1L) gene on chromosome 15q22.
Ontology: Human Disease [DOID:0081462]   ( DOID:0081462 )

Relationships
is a type of: retinal degeneration