hereditary spastic paraplegia 54

Summary

DOID:0110806 - hereditary spastic paraplegia 54

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11.

Synonyms: autosomal recessive spastic paraplegia 54, autosomal recessive spastic paraplegia type 54, SPG54

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

: ddhd2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014018 - hereditary spastic paraplegia 54

MONDO:0014018 - hereditary spastic paraplegia 54

MIM:

MIM:615033 - SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54

MIM:615033 - SPASTIC PARAPLEGIA 54, AUTOSOMAL RECESSIVE; SPG54

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)