hereditary spastic paraplegia 44

Summary

DOID:0110796 - hereditary spastic paraplegia 44

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42.

Synonyms: autosomal recessive spastic paraplegia 44, SPG44

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

: gjc2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013179 - hereditary spastic paraplegia 44

MONDO:0013179 - hereditary spastic paraplegia 44

MIM:

MIM:613206 - SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44

MIM:613206 - SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE; SPG44

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

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

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