hereditary spastic paraplegia 72A

Summary

DOID:0110817 - hereditary spastic paraplegia 72A

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2.

Synonyms: autosomal spastic paraplegia type 72, SPG72

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: reep2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014282 - hereditary spastic paraplegia 72

MONDO:0014282 - hereditary spastic paraplegia 72

MIM:

MIM:615625 - SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT; SPG72A

MIM:615625 - SPASTIC PARAPLEGIA 72A, AUTOSOMAL DOMINANT; SPG72A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), hereditary spastic paraplegia (is_a)