Search Ontology:
Human Disease
SPOAN syndrome
- Term ID
- DOID:0060491
- Synonyms
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- spastic paraplegia, optic atropy, and neuropathy
- spastic paraplegia, optic atropy, and neuropathy syndrome
- 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. (2)
- References
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- ICD10CM:G11.4
- MESH:C563702
- MIM:609541
- ORDO:320406
- Ontology
- Human Disease ( DOID:0060491 )
- is a type of
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Zebrafish Models