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DO Term : hereditary spastic paraplegia 50 [DOID:0110802] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.

synonyms:
SPG50,
autosomal recessive spastic paraplegia 50,
AP-4 deficiency syndrome,
adaptor protein complex 4 deficiency,
OMIM:612936,
AP-4-Associated Hereditary Spastic Paraplegia,
612936,
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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