ZFIN Human Disease: hereditary spastic paraplegia 18

OBO ID: DOID:0110771

Term Name:	hereditary spastic paraplegia 18		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 18 autosomal recessive spastic paraplegia type 18 IDMDC intellectual disability, motor dysfunction and joint contractures SPG18
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. https://www.ncbi.nlm.nih.gov/pubmed/21330303
References:	GARD:4922 ICD10CM:G11.4 OMIM:611225 ORDO:209951
Ontology:	Human Disease ( DOID:0110771 )

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 18 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ERLIN2	erlin2	Spastic paraplegia 18B, autosomal recessive	611225

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None