{
    "disease_id": "DOID:0070131",
    "recommended_name": {
        "id": "DOID:0070131",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070131",
        "name": "autosomal dominant cutis laxa 3",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0070131",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070131",
            "name": "ADCL3",
            "description": ""
        },
        {
            "id": "MONDO:0014706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014706",
            "name": "cutis laxa, autosomal dominant 3",
            "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."
        },
        {
            "id": "MONDO:0014706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014706",
            "name": "ADCL3",
            "description": ""
        },
        {
            "id": "MONDO:0014706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014706",
            "name": "cutis laxa, autosomal dominant 3",
            "description": ""
        },
        {
            "id": "MONDO:0014706",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014706",
            "name": "cutis laxa, autosomal dominant type 3",
            "description": ""
        },
        {
            "id": "MIM:616603",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616603",
            "name": "Cutis laxa, autosomal dominant, 3",
            "description": "Cutis laxa, autosomal dominant, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070131"
    ],
    "unlinked_id_list": []
}