| Metadata | |
|---|---|
| ID | DOID:0070356 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070356 Copy |
| 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 | |
| Parent Relationships |
is_a eye disease |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |