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DO Term : hereditary spastic paraplegia 47 [DOID:0110799] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13.

synonyms:
OMIM:614066,
spastic quadriplegic cerebral palsy 5,
SPG47,
autosomal recessive spastic paraplegia 47,
614066,
CPSQ5,
ORDO:280763

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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