Search Ontology:
Human Disease
Zeitz-Han retinal dystrophy
- Term ID
- DOID:0081462
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0081462 )
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Genes Involved
Zebrafish Models