{
    "disease_id": "DOID:0110799",
    "recommended_name": {
        "id": "DOID:0110799",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110799",
        "name": "hereditary spastic paraplegia 47",
        "description": "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110799",
            "name": "CPSQ5",
            "description": ""
        },
        {
            "id": "DOID:0110799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110799",
            "name": "SPG47",
            "description": ""
        },
        {
            "id": "DOID:0110799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110799",
            "name": "autosomal recessive spastic paraplegia 47",
            "description": ""
        },
        {
            "id": "DOID:0110799",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110799",
            "name": "spastic quadriplegic cerebral palsy 5",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "hereditary spastic paraplegia 47",
            "description": "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene."
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "AP4B1 hereditary spastic paraplegia",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "SPG47",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "Spastic Paraplegia 47",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "hereditary spastic paraplegia 47",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "hereditary spastic paraplegia caused by mutation in AP4B1",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "hereditary spastic paraplegia type 47",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "cerebral palsy, spastic quadriplegic, 5",
            "description": ""
        },
        {
            "id": "MONDO:0013551",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "name": "spastic paraplegia 47, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:614066",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614066",
            "name": "Spastic paraplegia 47, autosomal recessive",
            "description": "Spastic paraplegia 47, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110799"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110799",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110799",
            "categories": []
        },
        {
            "id": "MONDO:0013551",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013551",
            "categories": []
        },
        {
            "id": "MIM:614066",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614066",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9WV76-1",
            "uniprot_ac": "Q9WV76",
            "uniprot_id": "AP4B1_MOUSE",
            "refseq_ac": "NP_001157024",
            "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 beta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adapter complex subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 adaptor complex subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 beta-4",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit beta-1 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Beta subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Beta4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 4 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 4 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "beta subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "beta4-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4b1",
                    "type": "recommended"
                },
                {
                    "name": "1810038H16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ap4b1",
                    "type": "synonym"
                },
                {
                    "name": "Ap4b4",
                    "type": "synonym"
                },
                {
                    "name": "Gm43064",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WV76-1",
            "evidence": [
                {
                    "id": "0110799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110799"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6B7-1",
            "uniprot_ac": "Q9Y6B7",
            "uniprot_id": "AP4B1_HUMAN",
            "refseq_ac": "NP_001240781",
            "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 beta-1",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 adaptor complex subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit beta-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 4 subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "Beta subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "Beta4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 4 beta 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "beta 4 subunit of AP-4",
                    "type": "synonym"
                },
                {
                    "name": "beta4-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "spastic paraplegia 47",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP4B1",
                    "type": "recommended"
                },
                {
                    "name": "AP4B1",
                    "type": "synonym"
                },
                {
                    "name": "BETA-4",
                    "type": "synonym"
                },
                {
                    "name": "CPSQ5",
                    "type": "synonym"
                },
                {
                    "name": "SPG47",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6B7-1",
            "evidence": [
                {
                    "id": "614066",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614066"
                },
                {
                    "id": "0110799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110799"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A896-1",
            "uniprot_ac": "A0A8I6A896",
            "uniprot_id": "A0A8I6A896_RAT",
            "refseq_ac": "NP_001101179",
            "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 beta",
                    "type": "recommended"
                },
                {
                    "name": "AP-4 complex subunit beta-1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "AP-4 complex subunit beta-1",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 4, beta 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex AP-4, beta 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap4b1",
                    "type": "recommended"
                },
                {
                    "name": "Ap4b1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A896-1",
            "evidence": [
                {
                    "id": "0110799",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110799"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110799"
}