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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 NR2F1 on chromosome 5q15. (DO)
Synonyms:exact_synonym: BBSOAS;   optic atrophy-intellectual disability syndrome
 related_synonym: Bosch-Boonstra optic atrophy syndrome
 primary_id: OMIM:615722
 alt_id: DOID:9002038
 xref: ORDO:401777
For additional species annotation, visit the Alliance of Genome Resources.



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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 Fam172a family with sequence similarity 172, member A ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:7,553,873...8,018,183
Ensembl chr 2:7,553,891...8,018,162
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 2:8,040,375...8,050,123
Ensembl chr 2:8,040,377...8,050,123
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 2:7,907,504...7,908,738 JBrowse link
G RGD1560883 similar to KIAA0825 protein ISO ClinVar Annotator: match by term: Bosch-Boonstra-Schaaf optic atrophy syndrome ClinVar PMID:24462372 NCBI chr 2:6,874,474...7,437,032
Ensembl chr 2:6,874,539...7,434,521
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Bosch-Boonstra-Schaaf optic atrophy syndrome 4
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            disease of mental health 7449
              developmental disorder of mental health 4824
                specific developmental disorder 4065
                  intellectual disability 3879
                    syndromic intellectual disability 664
                      Bosch-Boonstra-Schaaf optic atrophy syndrome 4
paths to the root