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DO Term : hereditary spastic paraplegia 79B [DOID:0112344] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13.

synonyms:
spastic paraplegia 79 autosomal recessive,
SPG79B,
ORDO:352654,
early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome,
autosomal recessive spastic paraplegia 79B,
615491,
OMIM:615491

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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