hereditary spastic paraplegia 43

Summary

DOID:0110795 - hereditary spastic paraplegia 43

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12.

Synonyms: autosomal recessive spastic paraplegia 43, autosomal recessive spastic paraplegia type 43, SPG43

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

: c4h19orf12

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014024 - hereditary spastic paraplegia 43

MONDO:0014024 - hereditary spastic paraplegia 43

MIM:

MIM:615043 - SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43

MIM:615043 - SPASTIC PARAPLEGIA 43, AUTOSOMAL RECESSIVE; SPG43

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)