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ONTOLOGY REPORT - ANNOTATIONS


Term:SPOAN syndrome
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Accession:DOID:0060491 term browser browse the term
Definition:A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy. It has material basis in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: spastic paraplegia, optic atrophy, and neuropathy;   spastic paraplegia, optic atrophy, and neuropathy syndrome;   spastic paraplegia, optic atropy, and neuropathy;   spastic paraplegia, optic atropy, and neuropathy syndrome
 primary_id: MESH:C563702
 alt_id: OMIM:609541;   RDO:0012893
 xref: ORDO:320406
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SPOAN syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klc2 kinesin light chain 2 JBrowse link 1 220,492,174 220,502,397 RGD:11554173
RGD:8554872
RGD:7240710

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Path 1
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  disease 14759
    syndrome 4210
      SPOAN syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              optic nerve disease 183
                optic atrophy 86
                  SPOAN syndrome 1
paths to the root