ZFIN Human Disease: hereditary spastic paraplegia 5A

OBO ID: DOID:0110810

Term Name:	hereditary spastic paraplegia 5A		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 5A autosomal recessive spastic paraplegia type 5A SPG5A
Definition:	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. https://www.ncbi.nlm.nih.gov/pubmed/18252231
References:	GARD:4926 ICD10CM:G11.4 OMIM:270800 ORDO:100986
Ontology:	Human Disease ( DOID:0110810 )

Relationships

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

OTHER hereditary spastic paraplegia 5A PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CYP7B1	cyp7b1	Spastic paraplegia 5A, autosomal recessive	270800

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None