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Metadata
ID	DOID:0070356
Name	visual impairment and progressive phthisis bulbi
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. https://www.uniprot.org/diseases/DI-05463, https://en.wikipedia.org/wiki/Phthisis_bulbi, https://www.ncbi.nlm.nih.gov/pubmed/29771303
Xrefs	MESH:D005128 MIM:618283
Parent Relationships	is_a eye disease is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance