hereditary spastic paraplegia 5A
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
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Summary
hereditary spastic paraplegia 5A is a rare disease[1].
Key Facts
- hereditary spastic paraplegia 5A's instance of is recorded as rare disease[2].
- hereditary spastic paraplegia 5A's instance of is recorded as class of disease[3].
- hereditary spastic paraplegia 5A is a type of hereditary spastic paraplegia[4].
- hereditary spastic paraplegia 5A is a type of pure or complex autosomal recessive spastic paraplegia[5].
- hereditary spastic paraplegia 5A is a type of autosomal recessive disease[6].
- hereditary spastic paraplegia 5A's NCI Thesaurus ID is recorded as C177250[7].
- hereditary spastic paraplegia 5A's health specialty is recorded as neurology[8].
- hereditary spastic paraplegia 5A's genetic association is recorded as CYP7B1[9].
- hereditary spastic paraplegia 5A's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110810[10].
- hereditary spastic paraplegia 5A's exact match is recorded as http://identifiers.org/doid/DOID:0110810[11].
- hereditary spastic paraplegia 5A's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_100986[12].
- hereditary spastic paraplegia 5A's on focus list of Wikimedia project is recorded as WikiProject Medicine[13].