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Disease Ontology Browser
syndromic microphthalmia 16 (DOID:0060842)
Alliance: disease page
Synonyms: isolated microphthalmia 3; MCOP3
Alt IDs: OMIM:611038, ICD10CM:Q11.0, ORDO:2542
Definition: An isolated microphthalmia that is characterized by bilateral severe microphthalmia or anophthalmia with variable presence of midline defects, including cleft lip and palate, absence of frontal and/or sphenoidal sinuses, and absent pituitary gland and that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/07/2026
MGI 6.24 		The Jackson Laboratory