ZFIN Human Disease: hereditary spastic paraplegia 79B

OBO ID: DOID:0112344

Term Name:	hereditary spastic paraplegia 79B		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 79B early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome spastic paraplegia 79 autosomal recessive SPG79B
Definition:	A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. https://pubmed.ncbi.nlm.nih.gov/28007905/
References:	OMIM:615491 ORDO:352654
Ontology:	Human Disease ( DOID:0112344 )

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 79B PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
UCHL1	uchl1	Spastic paraplegia 79B, autosomal recessive	615491

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None