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DO Term : hereditary spastic paraplegia 5A [DOID:0110810] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12.

synonyms:
autosomal recessive spastic paraplegia 5A,
ICD10CM:G11.4,
GARD:4926,
ORDO:100986,
270800,
SPG5A,
OMIM:270800,
autosomal recessive spastic paraplegia type 5A

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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