WormBase Tree Display for DO_term: DOID:0112226
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| DOID:0112226 | Name | Bosch-Boonstra-Schaaf optic atrophy syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Synonym | Exact | BBSOAS | |||
| optic atrophy-intellectual disability syndrome | |||||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 615722 | |
| Attribute_of | Gene_by_orthology | WBGene00006790 |
