|  Help  |  About  |  Contact Us

DO Term : hereditary spastic paraplegia 84 [DOID:0112347] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21.
  • synonyms:
  • SPG84,
  • OMIM:619621,
  • 619621,
  • spastic paraplegia 84 autosomal recessive
Quick Links:
 
Quick Links:
 

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents