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Disease Ontology Browser
Bosch-Boonstra-Schaaf optic atrophy syndrome (DOID:0112226)
Alliance: disease page
Synonyms: BBSOAS; optic atrophy-intellectual disability syndrome
Alt IDs: OMIM:615722, ORDO:401777
Definition: A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15.

Disease References using Mouse Models (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
09/30/2025
MGI 6.24 		The Jackson Laboratory