ZFIN Human Disease: hereditary spastic paraplegia 48

OBO ID: DOID:0110800

Term Name:	hereditary spastic paraplegia 48		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 48 autosomal recessive spastic paraplegia type 48 SPG48
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. https://www.ncbi.nlm.nih.gov/pubmed/20613862
References:	ICD10CM:G11.4 OMIM:613647 ORDO:306511
Ontology:	Human Disease ( DOID:0110800 )

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 48 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
AP5Z1	ap5z1	Spastic paraplegia 48, autosomal recessive	613647

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None