| 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://en.wikipedia.org/wiki/Phthisis_bulbi, https://www.ncbi.nlm.nih.gov/pubmed/29771303, https://www.uniprot.org/diseases/DI-05463 |
| Xrefs | |
| Parent Relationships |
is_a eye disease |