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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:BROWN SYNDROME
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Accession:DOID:9002008 term browser browse the term
Definition:This disease is characterized by the inability to elevate the adducted eye actively or passively. There is less elevation deficit with the eye in midposition, and minimal or no deficit in abduction. Brown syndrome accounts for approximately 2% of strabismus cases. Ten percent of cases are bilateral, and left- and right-sided unilateral cases are equal in frequency.
Synonyms:exact_synonym: BRWNS
 xref: MIM:616407


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BROWN SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031 		JBrowse link
G Togaram1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 6:83,019,025...83,083,343
Ensembl chr 6:83,018,859...83,082,807 		JBrowse link
G Tubb4a tubulin, beta 4A class IVa ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 9:1,917,841...1,925,286
Ensembl chr 9:1,917,845...1,925,291 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    sensory system disease 7373
      eye disease 3721
        ocular motility disease 258
          strabismus 44
            BROWN SYNDROME 3
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        Neurologic Manifestations 10445
          sensory system disease 7373
            eye disease 3721
              refractive error 243
                hyperopia 51
                  strabismus 44
                    BROWN SYNDROME 3
paths to the root