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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: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: OMIM:210000
 xref: GARD:849;   NCI:C177251
For additional species annotation, visit the Alliance of Genome Resources.



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Behr syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar
OMIM
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    syndrome 8170
      Behr syndrome 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            disease of mental health 7064
              developmental disorder of mental health 4402
                specific developmental disorder 3664
                  intellectual disability 3475
                    Behr syndrome 1
paths to the root