Visualize Submit Comment

Metadata
ID	DOID:0061188
PURL	http://purl.obolibrary.org/obo/DOID_0061188 Copy Copied!
Name	autosomal recessive sensory neuropathy with spastic paraplegia
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/
Xrefs	MESH:C564948 MIM:256840 ORDO:139578 UMLS_CUI:C1850395 UMLS_CUI:C5679610
SKOS	exactMatch MIM:256840 exactMatch ORDO:139578
Subsets	DO_rare_slim
Parent Relationships	is_a hereditary sensory and autonomic neuropathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance