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hereditary spastic paraplegia 5A

http://purl.obolibrary.org/obo/DOID_0110810

A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

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Term info

Label

hereditary spastic paraplegia 5A

Synonyms

SPG5A
autosomal recessive spastic paraplegia 5A
autosomal recessive spastic paraplegia type 5A

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disease_ontology

DOID:0110810

Term relations

Subclass of:

autosomal recessive disease
hereditary spastic paraplegia
has material basis in some autosomal recessive inheritance