ZFIN Human Disease: hereditary spastic paraplegia 47

OBO ID: DOID:0110799

Term Name:	hereditary spastic paraplegia 47		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 47 CPSQ5 spastic quadriplegic cerebral palsy 5 SPG47
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (2)
References:	OMIM:614066 ORDO:280763
Ontology:	Human Disease ( DOID:0110799 )

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 47 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AP4B1	ap4b1	Spastic paraplegia 47, autosomal recessive	614066

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None