| Metadata | |
|---|---|
| ID | DOID:0080635 |
| Name | optic disc anomalies with retinal and/or macular dystrophy |
| Definition | A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. https://www.ncbi.nlm.nih.gov/pubmed/24702266 |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive disease is_a microphthalmia |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |