ZFIN Human Disease: hereditary spastic paraplegia 80

OBO ID: DOID:0112341

Term Name:	hereditary spastic paraplegia 80		Search Ontology:
Synonyms:	spastic paraplegia 80 autosomal dominant SPG80
Definition:	A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. https://pubmed.ncbi.nlm.nih.gov/30929741/
References:	OMIM:618418
Ontology:	Human Disease ( DOID:0112341 )

Relationships

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

OTHER hereditary spastic paraplegia 80 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UBAP1	ubap1	Spastic paraplegia 80, autosomal dominant	618418

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None