hereditary spastic paraplegia 56

Summary

DOID:0110808 - hereditary spastic paraplegia 56

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25.

Synonyms: autosomal recessive spastic paraplegia 56, autosomal recessive spastic paraplegia type 56, SPG56

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

: cyp2u1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014015 - hereditary spastic paraplegia 56

MONDO:0014015 - hereditary spastic paraplegia 56

MIM:

MIM:615030 - SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM; SPG56

MIM:615030 - SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM; SPG56

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)