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Human Disease

hereditary spastic paraplegia 44

Term ID

DOID:0110796

Synonyms

autosomal recessive spastic paraplegia 44
SPG44

Definition

A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. https://www.ncbi.nlm.nih.gov/pubmed/19056803

References

ICD10CM:G11.4
OMIM:613206
ORDO:320401

Ontology

Human Disease ( DOID:0110796 )

Relationships

is a type of: autosomal recessive disease hereditary spastic paraplegia

autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

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Alliance (1)

Genes Involved

Zebrafish Models

Citations