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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Bosch-Boonstra-Schaaf optic atrophy syndrome
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Accession:DOID:0112226 term browser browse the term
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. (DO)
Synonyms:exact_synonym: BBSOAS;   optic atrophy-intellectual disability syndrome
 related_synonym: Bosch-Boonstra optic atrophy syndrome
 primary_id: MIM:615722
 alt_id: DOID:9002038
 xref: ORDO:401777

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Bosch-Boonstra-Schaaf optic atrophy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARB2A ARB2 cotranscriptional regulator A ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 4:87,499,061...87,978,159 JBrowse link
G KIAA0825 KIAA0825 ortholog ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 4:88,018,026...88,499,287
Ensembl chr 4:88,238,022...88,422,215 		JBrowse link
G NR2F1 nuclear receptor subfamily 2 group F member 1 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome OMIM
ClinVar		 PMID:18414213 PMID:24462372 PMID:25326637 PMID:25741868 PMID:25741869 More... NCBI chr 4:87,463,514...87,475,900
Ensembl chr 4:87,466,249...87,475,112 		JBrowse link
G POU5F2 POU domain class 5, transcription factor 2 ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 4:87,625,754...87,629,124
Ensembl chr 4:87,626,124...87,627,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15388
    syndrome 10365
      Bosch-Boonstra-Schaaf optic atrophy syndrome 4
Path 2
Term Annotations click to browse term
  disease 15388
    disease of anatomical entity 15074
      nervous system disease 13212
        central nervous system disease 11795
          brain disease 11074
            disease of mental health 7954
              developmental disorder of mental health 5454
                specific developmental disorder 4477
                  intellectual disability 4287
                    syndromic intellectual disability 759
                      Bosch-Boonstra-Schaaf optic atrophy syndrome 4
paths to the root