hereditary spastic paraplegia 3A

Summary

DOID:0110791 - hereditary spastic paraplegia 3A

Disease Ontology Definition:A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22.

Synonyms: autosomal dominant familial spastic paraplegia 1, autosomal dominant spastic paraplegia 3, autosomal dominant spastic paraplegia type 3, FSP1, SPG3A, strumpell disease

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

: atl1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008437 - hereditary spastic paraplegia 3A

MONDO:0008437 - hereditary spastic paraplegia 3A

MIM:

MIM:182600 - SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

MIM:182600 - SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT; SPG3A

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant disease (is_a), hereditary spastic paraplegia (is_a)