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Human Disease

hereditary spastic paraplegia 47

Term ID

DOID:0110799

Synonyms

autosomal recessive spastic paraplegia 47
CPSQ5
spastic quadriplegic cerebral palsy 5
SPG47

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (2)

References

OMIM:614066
ORDO:280763

Ontology

Human Disease ( DOID:0110799 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations