{
    "disease_id": "DOID:0070091",
    "recommended_name": {
        "id": "DOID:0070091",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070091",
        "name": "schizophrenia 15",
        "description": "A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33."
    },
    "synonyms": [
        {
            "id": "DOID:0070091",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070091",
            "name": "SCZD15",
            "description": ""
        },
        {
            "id": "MONDO:0013498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013498",
            "name": "schizophrenia 15",
            "description": "A schizophrenia that has material basis in a mutation of SHANK3 on chromosome 22q13.33."
        },
        {
            "id": "MONDO:0013498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013498",
            "name": "SCZD15",
            "description": ""
        },
        {
            "id": "MONDO:0013498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013498",
            "name": "schizophrenia 15",
            "description": ""
        },
        {
            "id": "MONDO:0013498",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013498",
            "name": "schizophrenia type 15",
            "description": ""
        },
        {
            "id": "MIM:613950",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613950",
            "name": "Schizophrenia 15",
            "description": "Schizophrenia 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070091"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070091",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070091",
            "categories": []
        },
        {
            "id": "MONDO:0013498",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013498",
            "categories": []
        },
        {
            "id": "MIM:613950",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613950",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3ARK3-1",
            "uniprot_ac": "A0A8M3ARK3",
            "uniprot_id": "A0A8M3ARK3_DANRE",
            "refseq_ac": "XP_005164655",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Proline-rich synapse-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shank3b",
                    "type": "recommended"
                },
                {
                    "name": "shank3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3ARK3-1",
            "evidence": [
                {
                    "id": "0070091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AC58HWG2-1",
            "uniprot_ac": "A0AC58HWG2",
            "uniprot_id": "A0AC58HWG2_DANRE",
            "refseq_ac": "XP_073786323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Proline-rich synapse-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "shank3a",
                    "type": "recommended"
                },
                {
                    "name": "shank3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58HWG2-1",
            "evidence": [
                {
                    "id": "0070091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4ACU6-1",
            "uniprot_ac": "Q4ACU6",
            "uniprot_id": "SHAN3_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ProSAP2",
                    "type": "synonym"
                },
                {
                    "name": "Proline-rich synapse-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SPANK-2",
                    "type": "synonym"
                },
                {
                    "name": "Shank3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shank3",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa1650",
                    "type": "synonym"
                },
                {
                    "name": "Prosap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4ACU6-1",
            "evidence": [
                {
                    "id": "0070091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BYB0-1",
            "uniprot_ac": "Q9BYB0",
            "uniprot_id": "SHAN3_HUMAN",
            "refseq_ac": "NP_001358973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ProSAP2",
                    "type": "synonym"
                },
                {
                    "name": "Proline-rich synapse-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Shank3",
                    "type": "synonym"
                },
                {
                    "name": "proline rich synapse associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "shank postsynaptic density protein",
                    "type": "synonym"
                },
                {
                    "name": "shank3 postsynaptic density protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SHANK3",
                    "type": "recommended"
                },
                {
                    "name": "DEL22q13.3",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1650",
                    "type": "synonym"
                },
                {
                    "name": "PROSAP2",
                    "type": "synonym"
                },
                {
                    "name": "PSAP2",
                    "type": "synonym"
                },
                {
                    "name": "SCZD15",
                    "type": "synonym"
                },
                {
                    "name": "SHANK3",
                    "type": "synonym"
                },
                {
                    "name": "SPANK-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BYB0-1",
            "evidence": [
                {
                    "id": "613950",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613950"
                },
                {
                    "id": "0070091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JLU4-1",
            "uniprot_ac": "Q9JLU4",
            "uniprot_id": "SHAN3_RAT",
            "refseq_ac": "NP_067708",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "recommended"
                },
                {
                    "name": "ProSAP2",
                    "type": "synonym"
                },
                {
                    "name": "Proline-rich synapse-associated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "SH3 and multiple ankyrin repeat domains protein 3",
                    "type": "synonym"
                },
                {
                    "name": "SH3/ankyrin domain gene 3",
                    "type": "synonym"
                },
                {
                    "name": "SPANK-2",
                    "type": "synonym"
                },
                {
                    "name": "Shank postsynaptic density protein 3a",
                    "type": "synonym"
                },
                {
                    "name": "Shank3",
                    "type": "synonym"
                },
                {
                    "name": "proline-rich synapse-associated protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Shank3",
                    "type": "recommended"
                },
                {
                    "name": "Prosap2",
                    "type": "synonym"
                },
                {
                    "name": "Shank3",
                    "type": "synonym"
                },
                {
                    "name": "Spank-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JLU4-1",
            "evidence": [
                {
                    "id": "0070091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070091"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9K8-1",
            "uniprot_ac": "A1Z9K8",
            "uniprot_id": "A1Z9K8_DROME",
            "refseq_ac": "NP_610925",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG30483-PA",
                    "type": "synonym"
                },
                {
                    "name": "Prosap, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Prosap-PA",
                    "type": "synonym"
                },
                {
                    "name": "prosap, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "shank",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prosap",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH23107",
                    "type": "synonym"
                },
                {
                    "name": "CG13354",
                    "type": "synonym"
                },
                {
                    "name": "CG30483",
                    "type": "synonym"
                },
                {
                    "name": "CG8122",
                    "type": "synonym"
                },
                {
                    "name": "D-ProSAP",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30483",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30483",
                    "type": "synonym"
                },
                {
                    "name": "ProSAP",
                    "type": "synonym"
                },
                {
                    "name": "Prosap",
                    "type": "synonym"
                },
                {
                    "name": "Shank",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.149",
                    "type": "synonym"
                },
                {
                    "name": "prosap",
                    "type": "synonym"
                },
                {
                    "name": "shank3",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9K8-1",
            "evidence": [
                {
                    "id": "0070091",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070091"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070091"
}