{
    "disease_id": "DOID:0070131", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014706", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014706", 
            "name": "cutis laxa, autosomal dominant 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014706", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014706", 
            "name": "cutis laxa, autosomal dominant type 3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014706", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014706", 
            "name": "cutis laxa, autosomal dominant 3; ADCL3"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0014706", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0014706", 
            "name": "ADCL3"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070131", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070131", 
            "name": "ADCL3"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070131", 
        "description": "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070131", 
        "name": "autosomal dominant cutis laxa 3"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070131#disease-associations", 
            "id": "0070131", 
            "database": "Alliance of Genome Resources"
        }
    ]
}