Search Ontology:
Human Disease
autosomal recessive sensory neuropathy with spastic paraplegia
- Term ID
- DOID:0061188
- Synonyms
-
- Definition
- A hereditary sensory and autonomic neuropathy that has_material_basis_in homozygous mutation in the CCT5 gene on chromosome 5p15.2. https://pubmed.ncbi.nlm.nih.gov/16333315/
- References
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- MESH:C564948
- MIM:256840
- ORDO:139578
- UMLS_CUI:C1850395
- UMLS_CUI:C5679610
- Ontology
- Human Disease ( DOID:0061188 )
Other Pages
Genes Involved
Zebrafish Models