{
    "disease_id": "DOID:0060953",
    "recommended_name": {
        "id": "DOID:0060953",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060953",
        "name": "ZTTK syndrome",
        "description": "A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0060953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060953",
            "name": "Zhu-Tokita-Takenouchi-Kim syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060953",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060953",
            "name": "ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME",
            "description": ""
        },
        {
            "id": "MONDO:0014936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014936",
            "name": "ZTTK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014936",
            "name": "TOKIMS",
            "description": ""
        },
        {
            "id": "MONDO:0014936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014936",
            "name": "Tokita-Kim syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014936",
            "name": "ZTTK syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014936",
            "name": "ZTTK multiple congenital anomalies-mental retardation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014936",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014936",
            "name": "ZTTKS",
            "description": ""
        },
        {
            "id": "MIM:617140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617140",
            "name": "ZTTK syndrome",
            "description": "ZTTK syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060953"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060953",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060953",
            "categories": []
        },
        {
            "id": "MONDO:0014936",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014936",
            "categories": []
        },
        {
            "id": "MIM:617140",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617140",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7UZ56-1",
            "uniprot_ac": "A0A8N7UZ56",
            "uniprot_id": "A0A8N7UZ56_DANRE",
            "refseq_ac": "NP_001123872",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized protein LOC792544",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein LOC792544",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sona",
                    "type": "recommended"
                },
                {
                    "name": "fc30f01",
                    "type": "synonym"
                },
                {
                    "name": "fi20h07",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-67c22.2",
                    "type": "synonym"
                },
                {
                    "name": "sona",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc30f01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi20h07",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7UZ56-1",
            "evidence": [
                {
                    "id": "0060953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QX47-1",
            "uniprot_ac": "Q9QX47",
            "uniprot_id": "SON_MOUSE",
            "refseq_ac": "NP_849211",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SON",
                    "type": "recommended"
                },
                {
                    "name": "NRE-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Negative regulatory element-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Son cell proliferation protein",
                    "type": "synonym"
                },
                {
                    "name": "negative regulatory element-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein SON isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein SON",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Son",
                    "type": "recommended"
                },
                {
                    "name": "2900011L12Rik",
                    "type": "synonym"
                },
                {
                    "name": "Nrebp",
                    "type": "synonym"
                },
                {
                    "name": "Son",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1019",
                    "type": "synonym"
                },
                {
                    "name": "nrebp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QX47-1",
            "evidence": [
                {
                    "id": "0060953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18583-1",
            "uniprot_ac": "P18583",
            "uniprot_id": "SON_HUMAN",
            "refseq_ac": "NP_001278341",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SON",
                    "type": "recommended"
                },
                {
                    "name": "BASS1",
                    "type": "synonym"
                },
                {
                    "name": "Bax antagonist selected in Saccharomyces 1",
                    "type": "synonym"
                },
                {
                    "name": "Bax antagonist selected in saccharomyces 1",
                    "type": "synonym"
                },
                {
                    "name": "NRE-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Negative regulatory element-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Protein DBP-5",
                    "type": "synonym"
                },
                {
                    "name": "SON DNA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SON3",
                    "type": "synonym"
                },
                {
                    "name": "negative regulatory element-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein SON isoform H",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SON",
                    "type": "recommended"
                },
                {
                    "name": "BASS1",
                    "type": "synonym"
                },
                {
                    "name": "C21orf50",
                    "type": "synonym"
                },
                {
                    "name": "DBP-5",
                    "type": "synonym"
                },
                {
                    "name": "DBP5",
                    "type": "synonym"
                },
                {
                    "name": "HSPC310",
                    "type": "synonym"
                },
                {
                    "name": "HSPC312",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1019",
                    "type": "synonym"
                },
                {
                    "name": "NREBP",
                    "type": "synonym"
                },
                {
                    "name": "SON3",
                    "type": "synonym"
                },
                {
                    "name": "SON",
                    "type": "synonym"
                },
                {
                    "name": "TOKIMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P18583-1",
            "evidence": [
                {
                    "id": "617140",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617140"
                },
                {
                    "id": "0060953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1MAQ7-1",
            "uniprot_ac": "F1MAQ7",
            "uniprot_id": "F1MAQ7_RAT",
            "refseq_ac": "NP_001163798",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein SON",
                    "type": "recommended"
                },
                {
                    "name": "Negative regulatory element-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "SON DNA-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Son DNA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Son cell proliferation protein",
                    "type": "synonym"
                },
                {
                    "name": "protein SON isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Son",
                    "type": "recommended"
                },
                {
                    "name": "Son",
                    "type": "synonym"
                }
            ],
            "record_id": "F1MAQ7-1",
            "evidence": [
                {
                    "id": "0060953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060953"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VHB0-1",
            "uniprot_ac": "Q9VHB0",
            "uniprot_id": "SON_DROME",
            "refseq_ac": "NP_001262426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein Son",
                    "type": "recommended"
                },
                {
                    "name": "CG8273-PB",
                    "type": "synonym"
                },
                {
                    "name": "RNA-binding protein Son",
                    "type": "synonym"
                },
                {
                    "name": "Son DNA binding protein",
                    "type": "synonym"
                },
                {
                    "name": "Son RNA binding protein, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Son-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Son",
                    "type": "recommended"
                },
                {
                    "name": "CG8273",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8273",
                    "type": "synonym"
                },
                {
                    "name": "Son",
                    "type": "synonym"
                },
                {
                    "name": "cg8273",
                    "type": "synonym"
                },
                {
                    "name": "dSon",
                    "type": "synonym"
                },
                {
                    "name": "dsn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VHB0-1",
            "evidence": [
                {
                    "id": "0060953",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060953"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060953"
}