OBO ID: DOID:0112226
Term Name: Bosch-Boonstra-Schaaf optic atrophy syndrome Search Ontology:
Synonyms:
  • BBSOAS
  • optic atrophy-intellectual disability syndrome
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. https://pubmed.ncbi.nlm.nih.gov/24462372/
References:
Ontology: Human Disease   ( DOID:0112226 )
Relationships
is a type of:
OTHER Bosch-Boonstra-Schaaf optic atrophy syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome 615722
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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