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Disease Ontology Browser
hereditary spastic paraplegia 50 (DOID:0110802)
Alliance: disease page
Synonyms: 'adaptor protein complex 4 deficiency'; 'AP-4 deficiency syndrome'; 'AP-4-Associated Hereditary Spastic Paraplegia'; 'autosomal recessive spastic paraplegia 50'; 'CPSQ3'; 'spastic quadriplegic cerebral palsy 3'; 'SPG50'
Alt IDs: OMIM:612936, ORDO:280763
Definition: A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/15/2021
MGI 6.17
The Jackson Laboratory