hereditary spastic paraplegia 23

Summary

DOID:0110774 - hereditary spastic paraplegia 23

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32.

Synonyms: Lison syndrome, Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome, spastic paraplegia 23, spastic paraplegia with pigmentary abnormalities, SPG23

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

: dstyk

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010046 - hereditary spastic paraplegia 23

MONDO:0010046 - hereditary spastic paraplegia 23

MIM:

MIM:270750 - SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE; SPG23

MIM:270750 - SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE; SPG23

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)