About   Help   FAQ
Disease Ontology Browser
Behr syndrome (DOID:0111580)
Alliance: disease page
Synonyms: Abortive cerebellar ataxia (BEHRS); BEHRS; optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss; optic atrophy, infantile hereditary, Behr complicated form of
Alt IDs: OMIM:210000, MESH:C537669, NCI:C177251, UMLS_CUI:C0221061
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 the OPA1 gene on chromosome 3q29.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory