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Summary Literature (0)
DOID:0111800 - syndromic microphthalmia 12

Disease Ontology 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.

Synonyms: MCOPS12, microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects,

Xenbase Genes : rarb



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

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