ZFIN Human Disease: hereditary spastic paraplegia 83

OBO ID: DOID:0112346

Term Name:	hereditary spastic paraplegia 83		Search Ontology:
Synonyms:	spastic paraplegia 83 autosomal recessive SPG83
Definition:	A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. https://pubmed.ncbi.nlm.nih.gov/32707086/
References:	OMIM:619027
Ontology:	Human Disease ( DOID:0112346 )

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 83 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
HPDL	hpdl	Spastic paraplegia 83, autosomal recessive	619027

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None