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ONTOLOGY REPORT - ANNOTATIONS


Term:Behr syndrome
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Accession:DOID:0111580 term browser browse the term
Definition:A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in OPA1 on chromosome 3q29. (DO)
Synonyms:exact_synonym: Abortive cerebellar ataxia (BEHRS);   BEHRS;   infantile hereditary optic atrophy, Behr complicated form of;   infantile hereditary optic atrophy, with neurologic abnormalities;   optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
 primary_id: MESH:C537669
 alt_id: DOID:9002421;   OMIM:210000
 xref: GARD:849
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Behr syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    syndrome 5379
      Behr syndrome 1
Path 2
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  disease 15502
    disease of anatomical entity 14856
      nervous system disease 10270
        central nervous system disease 8409
          brain disease 7762
            disease of mental health 5617
              developmental disorder of mental health 2797
                specific developmental disorder 1964
                  intellectual disability 1788
                    Behr syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.