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visual impairment and progressive phthisis bulbi
Summary
- Definition
- An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3.
- Super Class
- autosomal recessive disease eye disease
External Links
- Disease Ontology
- DOID:0070356
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
