{
    "disease_id": "DOID:0081072",
    "recommended_name": {
        "id": "DOID:0081072",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081072",
        "name": "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome",
        "description": "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills."
    },
    "synonyms": [
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "Cerebro-facio-thoracic dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "Cerebrofaciothoracic dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "Pascual-Castroviejo syndrome",
            "description": ""
        },
        {
            "id": "DOID:0081072",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081072",
            "name": "TMCO1 defect syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1",
            "description": "Any craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development in which the cause of the disease is a variation in the TMCO1 gene."
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "CFSMR1",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "cerebrofaciothoracic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "pascual-Castroviejo syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "CFSMR",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "cerebro facio thoracic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0800436",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800436",
            "name": "pascual-Castroviejo syndrome",
            "description": ""
        },
        {
            "id": "MIM:213980",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/213980",
            "name": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1",
            "description": "Craniofacial dysmorphism, skeletal anomalies and impaired intellectual development syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0081124",
            "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0081125",
            "label": "craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0081072",
        "DOID:0081125",
        "DOID:0081124"
    ],
    "unlinked_id_list": []
}