Term Name: isolated microphthalmia 3
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 )

Relationships
is a type of: autosomal recessive disease isolated microphthalmia