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DOID:0110802 - hereditary spastic paraplegia 50
Disease Ontology Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1.
Synonyms: AP-4 deficiency syndrome, AP-4-Associated Hereditary Spastic Paraplegia, CPSQ3, SPG50, adaptor protein complex 4 deficiency, autosomal recessive spastic paraplegia 50, spastic quadriplegic cerebral palsy 3,
Xenbase Genes : ap4m1
MONDO:0013048 - hereditary spastic paraplegia 50 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee