hereditary spastic paraplegia 9B

Summary

DOID:0110825 - hereditary spastic paraplegia 9B

Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Synonyms: autosomal recessive complex spastic paraplegia type 9B, autosomal recessive spastic paraplegia 9B, SPG9B

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

: aldh18a1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014702 - frontonasal process epithelium

MONDO:0014702 - frontonasal process epithelium

MIM:

MIM:616586 - SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B

MIM:616586 - SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE; SPG9B

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)