{
    "disease_id": "DOID:0110804",
    "recommended_name": {
        "id": "DOID:0110804",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110804",
        "name": "hereditary spastic paraplegia 52",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12."
    },
    "synonyms": [
        {
            "id": "DOID:0110804",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110804",
            "name": "CPSQ6",
            "description": ""
        },
        {
            "id": "DOID:0110804",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110804",
            "name": "SPG52",
            "description": ""
        },
        {
            "id": "DOID:0110804",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110804",
            "name": "autosomal recessive spastic paraplegia 52",
            "description": ""
        },
        {
            "id": "DOID:0110804",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110804",
            "name": "spastic quadriplegic cerebral palsy 6",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "hereditary spastic paraplegia 52",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene."
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "AP4S1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "SPG52",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "Spastic Paraplegia 52",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "hereditary spastic paraplegia 52",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "hereditary spastic paraplegia caused by mutation in AP4S1",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "hereditary spastic paraplegia type 52",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "cerebral palsy, spastic quadriplegic, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013552",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "name": "spastic paraplegia 52, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:614067",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614067",
            "name": "Spastic paraplegia 52, autosomal recessive",
            "description": "Spastic paraplegia 52, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110804"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110804",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110804",
            "categories": []
        },
        {
            "id": "MONDO:0013552",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013552",
            "categories": []
        },
        {
            "id": "MIM:614067",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614067",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WVL1-1",
            "uniprot_ac": "Q9WVL1",
            "uniprot_id": "AP4S1_MOUSE",
            "refseq_ac": "NP_068356",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex subunit sigma-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adapter complex subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 adaptor complex subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit sigma-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-1 subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "sigma4-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4s1",
                    "type": "recommended"
                },
                {
                    "name": "Ap4s1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVL1-1",
            "evidence": [
                {
                    "id": "0110804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y587-1",
            "uniprot_ac": "Q9Y587",
            "uniprot_id": "AP4S1_HUMAN",
            "refseq_ac": "NP_001121598",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex subunit sigma-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adapter complex subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 adaptor complex subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit sigma-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-1 subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 4 sigma 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-associated/assembly/adaptor protein, sigma 4",
                    "type": "synonym"
                },
                {
                    "name": "sigma-4-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP4S1",
                    "type": "recommended"
                },
                {
                    "name": "AP47B",
                    "type": "synonym"
                },
                {
                    "name": "AP4S1",
                    "type": "synonym"
                },
                {
                    "name": "CLA20",
                    "type": "synonym"
                },
                {
                    "name": "CLAPS4",
                    "type": "synonym"
                },
                {
                    "name": "CPSQ6",
                    "type": "synonym"
                },
                {
                    "name": "SPG52",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y587-1",
            "evidence": [
                {
                    "id": "614067",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614067"
                },
                {
                    "id": "0110804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110804"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L1N1-1",
            "uniprot_ac": "A0ABK0L1N1",
            "uniprot_id": "A0ABK0L1N1_RAT",
            "refseq_ac": "NP_001124471",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP complex subunit sigma",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 complex subunit sigma-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit sigma-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 4, sigma 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-4, sigma 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4s1",
                    "type": "recommended"
                },
                {
                    "name": "Ap4s1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L1N1-1",
            "evidence": [
                {
                    "id": "0110804",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110804"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110804"
}