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DO Term : hereditary spastic paraplegia 82 [DOID:0112343] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3.
  • synonyms:
  • OMIM:618770,
  • 618770,
  • spastic paraplegia 82 autosomal recessive,
  • SPG82
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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