| Metadata | |
|---|---|
| ID | DOID:0060842 |
| Name | isolated microphthalmia 3 |
| Definition | An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. https://www.ncbi.nlm.nih.gov/pubmed/14662654, https://www.ncbi.nlm.nih.gov/pubmed/18783408 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MCOP3 [EXACT] |
| Parent Relationships |