hereditary spastic paraplegia 17
hereditary spastic paraplegia that has material basis in mutation in the BSCL2 gene on chromosome 11q12
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Summary
hereditary spastic paraplegia 17 is a rare disease[1]. It is known by 13 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: hereditary spastic paraplegia[4], autosomal dominant complex spastic paraplegia[5], autosomal dominant distal hereditary motor neuropathy[6], genetic disease[7], autosomal dominant disease[8]
- Prevalence: 0.000001[9]
- Health specialty: neurology[10]
- Genetic association: BSCL2[11]
- Age of onset: juvenile onset[12], adult onset[13], childhood onset[14]
- Exact match: http://purl.obolibrary.org/obo/DOID_0110770[15], http://identifiers.org/doid/DOID:0110770[16], http://www.orpha.net/ORDO/Orphanet_100998[17]
- On focus list of Wikimedia project: WikiProject Medicine[18]
- Has phenotype: split hand[19], paraplegia[20], abnormal reflex[21], pes cavus[22], Babinski sign[23], Q141815319[24], Q141815626[25], gait abnormality[26], Q141815898[27], flat feet[28], Q141815235[29], Q141816391[30], Q141816446[31]
- P14914: D100998[32]