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DO Term : hereditary spastic paraplegia 86 [DOID:0112342] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33.
  • synonyms:
  • 619735,
  • SPG86,
  • spastic paraplegia 86 autosomal recessive,
  • OMIM:619735
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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