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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
OMIM:611038 - MICROPHTHALMIA, ISOLATED 3; MCOP3 |
MONDO:0012604 - isolated microphthalmia 3 |
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes

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