Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	Behr syndrome
Synonyms	Abortive cerebellar ataxia (BEHRS)
Definitions	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.
ID	http://purl.obolibrary.org/obo/DOID_0111580
database_cross_reference	GARD:849 OMIM:210000 MESH:C537669 SNOMEDCT_US_2022_09_01:66988006 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.
has exact synonym	Abortive cerebellar ataxia (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 BEHRS
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0111580
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim
label	Behr syndrome
notation	DOID:0111580
prefLabel	Behr syndrome
subClassOf	http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_863

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/210000	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C537669	Medical Subject Headings	LOOM