ZFIN Human Disease: hereditary spastic paraplegia 54

OBO ID: DOID:0110806

Term Name:	hereditary spastic paraplegia 54		Search Ontology:
Synonyms:	autosomal recessive spastic paraplegia 54 autosomal recessive spastic paraplegia type 54 SPG54
Definition:	A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. https://www.ncbi.nlm.nih.gov/pubmed/23176823
References:	ICD10CM:G11.4 OMIM:615033 ORDO:320380
Ontology:	Human Disease ( DOID:0110806 )

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 54 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
DDHD2	ddhd2	Spastic paraplegia 54, autosomal recessive	615033

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None