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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

Xenbase Genes : rax

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012604 - isolated microphthalmia 3

MIM:
MIM:611038 - MICROPHTHALMIA, SYNDROMIC 16; MCOPS16

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), isolated microphthalmia (is_a), microphthalmia (is_a)