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DO Term : hereditary spastic paraplegia 81 [DOID:0112349] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3.

synonyms:
ORDO:506353,
618768,
SPG81,
spastic paraplegia 81 autosomal recessive,
autosomal recessive complex SPG due to Kennedy pathway dysfunction,
autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction,
OMIM:618768

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

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