ZFIN Human Disease: hereditary spastic paraplegia 78

OBO ID: DOID:0112348

Term Name:	hereditary spastic paraplegia 78		Search Ontology:
Synonyms:	spastic paraplegia 78 autosomal recessive SPG78
Definition:	A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. https://pubmed.ncbi.nlm.nih.gov/28137957/
References:	OMIM:617225 ORDO:513436
Ontology:	Human Disease ( DOID:0112348 )

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 78 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ATP13A2	atp13a2	Spastic paraplegia 78, autosomal recessive	617225

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None