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syndromic microphthalmia 12 (DOID:0111800)
Alliance: disease page
Synonyms: MCOPS12; microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
Alt IDs: OMIM:615524
Definition: A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2.

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
11/12/2024
MGI 6.24 		The Jackson Laboratory