{
    "disease_id": "DOID:0050469",
    "recommended_name": {
        "id": "DOID:0050469",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050469",
        "name": "Costello syndrome",
        "description": "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays."
    },
    "synonyms": [
        {
            "id": "DOID:0050469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050469",
            "name": "FCS SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0050469",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050469",
            "name": "Faciocutaneoskeletal Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "Costello syndrome",
            "description": "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors."
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "Costello syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "FCS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "congenital myopathy with excess of muscle spindles",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "faciocutaneoskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009026",
            "name": "CSTLO",
            "description": ""
        },
        {
            "id": "MIM:218040",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/218040",
            "name": "Congenital myopathy with excess of muscle spindles",
            "description": "Congenital myopathy with excess of muscle spindles"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050469"
    ],
    "unlinked_id_list": []
}