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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
Echinobase Genes

MIM:611038 - microphthalmia, isolated 3; mcop3 |
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)