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Behr syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008858

A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient. [ https://rarediseases.info.nih.gov/diseases/849/behr-syndrome https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • MESH:C537669 (Orphanet:1239/e)
  • DOID:0111580 (MONDO:equivalentTo)
  • SCTID:718221007 (MONDO:equivalentTo)
  • GARD:0000849 (MONDO:equivalentTo)
  • UMLS:C0221061 (Orphanet:1239/e)
  • NCIT:C177251 (MONDO:equivalentTo)
  • Orphanet:1239 (OMIM:210000)
  • OMIM:210000 (Orphanet:1239/e)
  • ICD10CM:H35.5 (Orphanet:1239/ntbt)
Subsets

gard_rare, ordo_malformation_syndrome

A synonym that is historic and discouraged
optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss [ GARD:0000849 ]

abbreviation
BEHRS [ OMIM:210000 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5475

comment

Editor note: note ORDO obsoleting Behr disease and replaced by the more generic SHON but we retain for gene-speicific form

definition

A disorder characterized by early-onset optic atrophy along with neurological features, including ataxia, spasticity, and intellectual disability. Other signs and symptoms may be present and vary from person to person. This condition is caused by mutations in the OPA1 gene. It is inherited in an autosomal recessive manner. Treatment depends on the specific signs and symptoms seen in the patient.

exactMatch

http://purl.obolibrary.org/obo/DOID_0111580, http://identifiers.org/snomedct/718221007, http://identifiers.org/mesh/C537669, http://purl.obolibrary.org/obo/NCIT_C177251, https://omim.org/entry/210000, http://linkedlifedata.com/resource/umls/id/C0221061

has exact synonym

Behr syndrome

has related synonym

optic atrophy in early childhood, associated with ataxia, spasticity, intellectual disability, and posterior column sensory loss, BEHRS, optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss, optic atrophy, infantile hereditary, with neurologic abnormalities, optic atrophy, infantile hereditary, Behr complicated form of

id

MONDO:0008858

seeAlso

https://rarediseases.info.nih.gov/diseases/849/behr-syndrome