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isolated microphthalmia 3
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease isolated microphthalmia
External Links
- Disease Ontology
- DOID:0060842
- Mondo Disease Ontology
- ORDO
- OMIM
