hereditary spastic paraplegia 72A

Term ID

DOID:0110817

Synonyms

autosomal spastic paraplegia type 72
SPG72

Definition

A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. https://www.ncbi.nlm.nih.gov/pubmed/24388663

References

ICD10CM:G11.4
OMIM:615625
ORDO:401849

Ontology

Human Disease ( DOID:0110817 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease hereditary spastic paraplegia

autosomal dominant disease autosomal recessive disease hereditary spastic paraplegia Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models

Citations