Preferred Name |
optic atrophy 6 |
Synonyms |
OPA6 |
Definitions |
An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. |
ID |
http://purl.obolibrary.org/obo/DOID_0111435 |
database_cross_reference |
OMIM:258500 MESH:C537127 |
definition |
An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. |
has exact synonym |
OPA6 |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0111435 |
label |
optic atrophy 6 |
notation |
DOID:0111435 |
prefLabel |
optic atrophy 6 |
subClassOf |