{
    "disease_id": "DOID:0060404",
    "recommended_name": {
        "id": "DOID:0060404",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060404",
        "name": "chromosome 17q12 deletion syndrome",
        "description": "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder."
    },
    "synonyms": [
        {
            "id": "DOID:0060404",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060404",
            "name": "17q12 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "name": "chromosome 17q12 deletion syndrome",
            "description": "17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. Mullerian aplasia in females, macrocephaly, mild facial dysmorphism (high forehead, deep set eyes and chubby cheeks) and transcient hypercalcaemia have also been reported."
        },
        {
            "id": "MONDO:0013797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "name": "17q12 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "name": "Del(17)(q12)",
            "description": ""
        },
        {
            "id": "MONDO:0013797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "name": "chromosome 17q12 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "name": "monosomy 17q12",
            "description": ""
        },
        {
            "id": "MONDO:0013797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "name": "17q12 deletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013797",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "name": "17q12 recurrent deletion syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060404"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060404",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060404",
            "categories": []
        },
        {
            "id": "MONDO:0013797",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013797",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0AB32T8A1",
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                }
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                    "type": "synonym"
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                    "name": "acaca",
                    "type": "recommended"
                },
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                    "name": "acaca",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                }
            ],
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                    "id": "0060404",
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        {
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                }
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                    "name": "acetyl-CoA carboxylase",
                    "type": "recommended"
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                },
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                }
            ],
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                    "name": "acacb",
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}