ZFIN Human Disease: hereditary spastic paraplegia 85

OBO ID: DOID:0112345

Term Name:	hereditary spastic paraplegia 85		Search Ontology:
Synonyms:	spastic paraplegia 85 autosomal recessive SPG85
Definition:	A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. https://pubmed.ncbi.nlm.nih.gov/31636353/
References:	OMIM:619686
Ontology:	Human Disease ( DOID:0112345 )

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 85 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RNF170	rnf170	Spastic paraplegia 85, autosomal recessive	619686

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None