{
    "disease_id": "DOID:0110800",
    "recommended_name": {
        "id": "DOID:0110800",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110800",
        "name": "hereditary spastic paraplegia 48",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110800",
            "name": "SPG48",
            "description": ""
        },
        {
            "id": "DOID:0110800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110800",
            "name": "autosomal recessive spastic paraplegia 48",
            "description": ""
        },
        {
            "id": "DOID:0110800",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110800",
            "name": "autosomal recessive spastic paraplegia type 48",
            "description": ""
        },
        {
            "id": "MONDO:0013342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "name": "hereditary spastic paraplegia 48",
            "description": "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported."
        },
        {
            "id": "MONDO:0013342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "name": "AP5Z1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "name": "SPG48",
            "description": ""
        },
        {
            "id": "MONDO:0013342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "name": "autosomal recessive spastic paraplegia type 48",
            "description": ""
        },
        {
            "id": "MONDO:0013342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "name": "hereditary spastic paraplegia caused by mutation in AP5Z1",
            "description": ""
        },
        {
            "id": "MONDO:0013342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "name": "hereditary spastic paraplegia type 48",
            "description": ""
        },
        {
            "id": "MONDO:0013342",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "name": "spastic paraplegia 48, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:613647",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613647",
            "name": "Spastic paraplegia 48, autosomal recessive",
            "description": "Spastic paraplegia 48, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110800"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110800",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110800",
            "categories": []
        },
        {
            "id": "MONDO:0013342",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013342",
            "categories": []
        },
        {
            "id": "MIM:613647",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613647",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6YX82-1",
            "uniprot_ac": "A0A8M6YX82",
            "uniprot_id": "A0A8M6YX82_DANRE",
            "refseq_ac": "XP_017208565",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-5 complex subunit zeta-1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ap5z1",
                    "type": "recommended"
                },
                {
                    "name": "ap5z1",
                    "type": "synonym"
                },
                {
                    "name": "gb:cf995958",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M6YX82-1",
            "evidence": [
                {
                    "id": "0110800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U829-1",
            "uniprot_ac": "Q3U829",
            "uniprot_id": "AP5Z1_MOUSE",
            "refseq_ac": "NP_766313",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-5 complex subunit zeta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-5 complex subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 5 zeta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Zeta5",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 5 zeta subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 5 zeta subunit",
                    "type": "synonym"
                },
                {
                    "name": "zeta5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap5z1",
                    "type": "recommended"
                },
                {
                    "name": "Ap5z1",
                    "type": "synonym"
                },
                {
                    "name": "C330006K01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0415",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U829-1",
            "evidence": [
                {
                    "id": "0110800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43299-1",
            "uniprot_ac": "O43299",
            "uniprot_id": "AP5Z1_HUMAN",
            "refseq_ac": "NP_055670",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-5 complex subunit zeta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-5 complex subunit zeta-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-5 complex subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 5 zeta subunit",
                    "type": "synonym"
                },
                {
                    "name": "Zeta5",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 5 zeta subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 5 zeta 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 5 zeta subunit",
                    "type": "synonym"
                },
                {
                    "name": "zeta5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP5Z1",
                    "type": "recommended"
                },
                {
                    "name": "AP5Z1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0415",
                    "type": "synonym"
                },
                {
                    "name": "SPG48",
                    "type": "synonym"
                },
                {
                    "name": "zeta",
                    "type": "synonym"
                }
            ],
            "record_id": "O43299-1",
            "evidence": [
                {
                    "id": "613647",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613647"
                },
                {
                    "id": "0110800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110800"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JYJ5-1",
            "uniprot_ac": "A0A0G2JYJ5",
            "uniprot_id": "A0A0G2JYJ5_RAT",
            "refseq_ac": "NP_001032297",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-5 complex subunit zeta-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor related protein complex 5 subunit zeta 1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 5, zeta 1 subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07035428.2",
                    "type": "recommended"
                },
                {
                    "name": "Ap5z1",
                    "type": "recommended"
                },
                {
                    "name": "AABR07035428.2",
                    "type": "synonym"
                },
                {
                    "name": "Ap5z1",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa0415",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2JYJ5-1",
            "evidence": [
                {
                    "id": "0110800",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110800"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110800"
}