{
    "disease_id": "DOID:0080691", 
    "synonyms": [], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080691", 
        "description": "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080691", 
        "name": "Noonan syndrome-like disorder with loose anagen hair"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080691#disease-associations", 
            "id": "0080691", 
            "database": "Alliance of Genome Resources"
        }
    ]
}