{
    "disease_id": "DOID:0060394",
    "recommended_name": {
        "id": "DOID:0060394",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060394",
        "name": "chromosome 15q13.3 microdeletion syndrome",
        "description": "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15."
    },
    "synonyms": [
        {
            "id": "DOID:0060394",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060394",
            "name": "15q13.3 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "name": "chromosome 15q13.3 microdeletion syndrome",
            "description": "15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features."
        },
        {
            "id": "MONDO:0012774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "name": "15q13.3 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "name": "Del(15)(q13.3)",
            "description": ""
        },
        {
            "id": "MONDO:0012774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "name": "chromosome 15q13.3 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "name": "monosomy 15q13.3",
            "description": ""
        },
        {
            "id": "MONDO:0012774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "name": "15q13.3 microdeletion",
            "description": ""
        },
        {
            "id": "MONDO:0012774",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "name": "microdeletion 15q13.3 syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060394"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060394",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060394",
            "categories": []
        },
        {
            "id": "MONDO:0012774",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012774",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M2BJ81",
            "uniprot_id": "A0A8M2BJ81_DANRE",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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                {
                    "name": "Transient receptor potential cation channel subfamily M member 3 isoform X13",
                    "type": "synonym"
                },
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                    "type": "synonym"
                }
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                {
                    "name": "trpm3",
                    "type": "recommended"
                },
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                    "name": "trpm3",
                    "type": "synonym"
                }
            ],
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                    "id": "0060394",
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                }
            ]
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                }
            ],
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                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
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                    "name": "2.7.11.1",
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                }
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                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "synonym"
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                    "type": "recommended"
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                    "type": "synonym"
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                    "type": "synonym"
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            ],
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                    "name": "Danio rerio",
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                }
            ],
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                    "name": "ubiquitinyl hydrolase 1",
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                    "type": "synonym"
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                    "name": "OTU domain-containing protein 7A",
                    "type": "synonym"
                }
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                    "type": "recommended"
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                    "id": "0060394",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060394"
                }
            ]
        },
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                    "name": "OTU domain-containing protein 7A",
                    "type": "recommended"
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                },
                {
                    "name": "Cezanne 2 protein",
                    "type": "synonym"
                },
                {
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                },
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                    "name": "Zinc finger protein Cezanne 2",
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                }
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Transient receptor potential cation channel subfamily M member 3",
                    "type": "recommended"
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                    "name": "melastatin 2",
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                    "name": "transient receptor potential cation channel subfamily M member 3 isoform b",
                    "type": "synonym"
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                    "name": "6330504P12Rik",
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                {
                    "name": "B930001P07Rik",
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                    "name": "LTRPC3",
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                {
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                }
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                {
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                    "id": "0060394",
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                }
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                    "id": "0060394",
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            ]
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                    "name": "Drosophila melanogaster",
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                {
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                {
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                {
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            ]
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    "record_id": "doid.0060394"
}