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DO Term : Bosch-Boonstra-Schaaf optic atrophy syndrome [DOID:0112226] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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.

synonyms:
BBSOAS,
OMIM:615722,
ORDO:401777,
615722,
optic atrophy-intellectual disability syndrome

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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