ZFIN Human Disease: hereditary spastic paraplegia 17

OBO ID: DOID:0110770

Term Name:	hereditary spastic paraplegia 17		Search Ontology:
Synonyms:	autosomal dominant spastic paraplegia 17 autosomal dominant spastic paraplegia type 17 dHMN5B distal hereditary motor neuropathy type 5B Silver spastic paraplegia syndrome Silver syndrome spastic paraplegia with amyotrophy of hands and feet spastic paraplegia-amyotrophy of hands and feet SPG17
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. https://www.ncbi.nlm.nih.gov/pubmed/14981520
References:	GARD:4219 ICD10CM:G11.4 OMIM:270685 ORDO:100998
Ontology:	Human Disease ( DOID:0110770 )

Relationships

is a type of:	autosomal dominant disease hereditary spastic paraplegia autosomal dominant disease hereditary spastic paraplegia Show first 5 Terms

OTHER hereditary spastic paraplegia 17 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
BSCL2	bscl2	Silver spastic paraplegia syndrome	270685

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None