{
    "disease_id": "DOID:0060938",
    "recommended_name": {
        "id": "DOID:0060938",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060938",
        "name": "dystonia 31",
        "description": "A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060938",
            "name": "DYT31",
            "description": ""
        },
        {
            "id": "DOID:0060938",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060938",
            "name": "ZECH-BOESCH SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0030455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030455",
            "name": "dystonia 31",
            "description": ""
        },
        {
            "id": "MONDO:0030455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030455",
            "name": "DYT31",
            "description": ""
        },
        {
            "id": "MIM:619565",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619565",
            "name": "Dystonia 31",
            "description": "Dystonia 31"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060938"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060938",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060938",
            "categories": []
        },
        {
            "id": "MONDO:0030455",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030455",
            "categories": []
        },
        {
            "id": "MIM:619565",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619565",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0V1A5-1",
            "uniprot_ac": "B0V1A5",
            "uniprot_id": "B0V1A5_DANRE",
            "refseq_ac": "NP_001116730",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminopeptidase O",
                    "type": "recommended"
                },
                {
                    "name": "aminopeptidase O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "aopep",
                    "type": "recommended"
                },
                {
                    "name": "aopep",
                    "type": "synonym"
                },
                {
                    "name": "cb974",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa96d09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc79b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:162939",
                    "type": "synonym"
                }
            ],
            "record_id": "B0V1A5-1",
            "evidence": [
                {
                    "id": "0060938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BXQ6-1",
            "uniprot_ac": "Q8BXQ6",
            "uniprot_id": "AMPO_MOUSE",
            "refseq_ac": "NP_001276853",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminopeptidase O",
                    "type": "recommended"
                },
                {
                    "name": "3.4.11.-",
                    "type": "synonym"
                },
                {
                    "name": "AP-O",
                    "type": "synonym"
                },
                {
                    "name": "aminopeptidase O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aopep",
                    "type": "recommended"
                },
                {
                    "name": "2010111I01Rik",
                    "type": "synonym"
                },
                {
                    "name": "2300006M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "AP-O",
                    "type": "synonym"
                },
                {
                    "name": "Aopep",
                    "type": "synonym"
                },
                {
                    "name": "ApO",
                    "type": "synonym"
                },
                {
                    "name": "Onpep",
                    "type": "synonym"
                },
                {
                    "name": "mir-23b",
                    "type": "synonym"
                },
                {
                    "name": "mir-24-1",
                    "type": "synonym"
                },
                {
                    "name": "mir-27b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BXQ6-1",
            "evidence": [
                {
                    "id": "0060938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N6M6-1",
            "uniprot_ac": "Q8N6M6",
            "uniprot_id": "AMPO_HUMAN",
            "refseq_ac": "NP_001180258",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminopeptidase O",
                    "type": "recommended"
                },
                {
                    "name": "3.4.11.-",
                    "type": "synonym"
                },
                {
                    "name": "AP-O",
                    "type": "synonym"
                },
                {
                    "name": "aminopeptidase O isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AOPEP",
                    "type": "recommended"
                },
                {
                    "name": "AOPEP",
                    "type": "synonym"
                },
                {
                    "name": "AP-O",
                    "type": "synonym"
                },
                {
                    "name": "APO",
                    "type": "synonym"
                },
                {
                    "name": "C90RF3",
                    "type": "synonym"
                },
                {
                    "name": "C9orf3",
                    "type": "synonym"
                },
                {
                    "name": "DYT31",
                    "type": "synonym"
                },
                {
                    "name": "ONPEP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N6M6-1",
            "evidence": [
                {
                    "id": "619565",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619565"
                },
                {
                    "id": "0060938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060938"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P69527-1",
            "uniprot_ac": "P69527",
            "uniprot_id": "AMPO_RAT",
            "refseq_ac": "NP_001012346",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Aminopeptidase O",
                    "type": "recommended"
                },
                {
                    "name": "3.4.11.-",
                    "type": "synonym"
                },
                {
                    "name": "AP-O",
                    "type": "synonym"
                },
                {
                    "name": "aminopeptidase O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aopep",
                    "type": "recommended"
                },
                {
                    "name": "Aopep",
                    "type": "synonym"
                },
                {
                    "name": "Apo",
                    "type": "synonym"
                },
                {
                    "name": "Npepo",
                    "type": "synonym"
                },
                {
                    "name": "Onpep",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309592",
                    "type": "synonym"
                }
            ],
            "record_id": "P69527-1",
            "evidence": [
                {
                    "id": "0060938",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060938"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060938"
}