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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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 and that 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
For additional species annotation, visit the Alliance of Genome Resources.


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SPOAN syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Spastic paraplegia, optic atrophy, and neuropathy ClinVar
OMIM
PMID:24482476, PMID:26385635 NCBI chr 1:220,492,174...220,502,397
Ensembl chr 1:220,492,176...220,502,272
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      SPOAN syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            cranial nerve disease 474
              optic nerve disease 241
                optic atrophy 132
                  SPOAN syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.