ZFIN Human Disease: hereditary spastic paraplegia 51

OBO ID: DOID:0110803

Term Name:	hereditary spastic paraplegia 51		Search Ontology:
Synonyms:	autosomal dominant spastic paraplegia 51 CPSQ4 spastic quadriplegic cerebral palsy 4 SPG51
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (2)
References:	GARD:10999 OMIM:613744 ORDO:280763
Ontology:	Human Disease ( DOID:0110803 )

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 51 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AP4E1	ap4e1	Spastic paraplegia 51, autosomal recessive	613744

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None