hereditary spastic paraplegia 28

Summary

DOID:0110779 - hereditary spastic paraplegia 28

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22.

Synonyms: autosomal recessive spastic paraplegia 28, autosomal recessive spastic paraplegia type 28, SPG28

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

: ddhd1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012256 - hereditary spastic paraplegia 28

MONDO:0012256 - hereditary spastic paraplegia 28

MIM:

MIM:609340 - SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28

MIM:609340 - SPASTIC PARAPLEGIA 28, AUTOSOMAL RECESSIVE; SPG28

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)