{
    "disease_id": "DOID:0110802",
    "recommended_name": {
        "id": "DOID:0110802",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110802",
        "name": "hereditary spastic paraplegia 50",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110802",
            "name": "SPG50",
            "description": ""
        },
        {
            "id": "DOID:0110802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110802",
            "name": "autosomal recessive spastic paraplegia 50",
            "description": ""
        },
        {
            "id": "DOID:0110802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110802",
            "name": "AP-4 deficiency syndrome",
            "description": ""
        },
        {
            "id": "DOID:0110802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110802",
            "name": "AP-4-Associated Hereditary Spastic Paraplegia",
            "description": ""
        },
        {
            "id": "DOID:0110802",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110802",
            "name": "adaptor protein complex 4 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "hereditary spastic paraplegia 50",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene."
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "AP4M1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "SPG50",
            "description": ""
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "Spastic Paraplegia 50",
            "description": ""
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "hereditary spastic paraplegia caused by mutation in AP4M1",
            "description": ""
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "hereditary spastic paraplegia type 50",
            "description": ""
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "cerebral palsy, spastic quadriplegic, 3",
            "description": ""
        },
        {
            "id": "MONDO:0013048",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "name": "spastic paraplegia 50, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:612936",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612936",
            "name": "Spastic paraplegia 50, autosomal recessive",
            "description": "Spastic paraplegia 50, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110802"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110802",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110802",
            "categories": []
        },
        {
            "id": "MONDO:0013048",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013048",
            "categories": []
        },
        {
            "id": "MIM:612936",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612936",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9JKC7-1",
            "uniprot_ac": "Q9JKC7",
            "uniprot_id": "AP4M1_MOUSE",
            "refseq_ac": "NP_067367",
            "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 mu-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adapter complex mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 adaptor complex mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "Mu subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Mu-adaptin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mu4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 mu-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 4 subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-4 mu4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "mu subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "mu-ARP2",
                    "type": "synonym"
                },
                {
                    "name": "mu-adaptin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mu4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "mu4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4m1",
                    "type": "recommended"
                },
                {
                    "name": "4930443L05Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ap4m1",
                    "type": "synonym"
                },
                {
                    "name": "Ap4m4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKC7-1",
            "evidence": [
                {
                    "id": "0110802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00189-1",
            "uniprot_ac": "O00189",
            "uniprot_id": "AP4M1_HUMAN",
            "refseq_ac": "NP_004713",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex subunit mu-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adaptor complex mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit mu-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "Mu subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Mu-adaptin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mu4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 mu-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 4 mu 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-4 mu4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "mu subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "mu-ARP2",
                    "type": "synonym"
                },
                {
                    "name": "mu-adaptin-related protein-2",
                    "type": "synonym"
                },
                {
                    "name": "mu4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "mu4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP4M1",
                    "type": "recommended"
                },
                {
                    "name": "AP4M1",
                    "type": "synonym"
                },
                {
                    "name": "CPSQ3",
                    "type": "synonym"
                },
                {
                    "name": "MU-4",
                    "type": "synonym"
                },
                {
                    "name": "MU-ARP2",
                    "type": "synonym"
                },
                {
                    "name": "MUARP2",
                    "type": "synonym"
                },
                {
                    "name": "SPG50",
                    "type": "synonym"
                }
            ],
            "record_id": "O00189-1",
            "evidence": [
                {
                    "id": "612936",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612936"
                },
                {
                    "id": "0110802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110802"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2PWT8-1",
            "uniprot_ac": "Q2PWT8",
            "uniprot_id": "AP4M1_RAT",
            "refseq_ac": "NP_001033066",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-4 complex subunit mu-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adapter complex mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 adaptor complex mu subunit",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit mu-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "Mu subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Mu-adaptin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Mu4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 mu-1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 subunit mu-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 4, mu 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-4, mu 1",
                    "type": "synonym"
                },
                {
                    "name": "mu subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "mu-ARP2",
                    "type": "synonym"
                },
                {
                    "name": "mu-adaptin-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mu4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "mu4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4m1",
                    "type": "recommended"
                },
                {
                    "name": "Ap4m1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2PWT8-1",
            "evidence": [
                {
                    "id": "0110802",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110802"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110802"
}