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Summary Literature (1)
DOID:0060842 - isolated microphthalmia 3


Disease Ontology 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.

Synonyms: MCOP3

In OMIM:
OMIM:611038 - MICROPHTHALMIA, ISOLATED 3; MCOP3

In Mondo Disease Ontology:
MONDO:0012604 - isolated microphthalmia 3

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : rax

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), isolated microphthalmia (is_a), microphthalmia (is_a)