Term Name: | isolated microphthalmia 3 |
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Synonyms: | MCOP3 |
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. |
Ontology: | Human Disease [DOID:0060842] ( DOID:0060842 ) |