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DO Term : hereditary spastic paraplegia 85 [DOID:0112345] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21.
  • synonyms:
  • SPG85,
  • spastic paraplegia 85 autosomal recessive,
  • 619686,
  • OMIM:619686
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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