| Term Name: | Zeitz-Han retinal dystrophy |
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| 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 ) |