{
    "disease_id": "DOID:0070133",
    "recommended_name": {
        "id": "DOID:0070133",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070133",
        "name": "autosomal recessive cutis laxa type IB",
        "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070133",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070133",
            "name": "ARCL1B",
            "description": ""
        },
        {
            "id": "MONDO:0013754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "name": "cutis laxa, autosomal recessive, type 1B",
            "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13."
        },
        {
            "id": "MONDO:0013754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "name": "ARCL1B",
            "description": ""
        },
        {
            "id": "MONDO:0013754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "name": "autosomal recessive cutis laxa type IB",
            "description": ""
        },
        {
            "id": "MONDO:0013754",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013754",
            "name": "cutis laxa, autosomal recessive, type IB",
            "description": ""
        },
        {
            "id": "MIM:614437",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614437",
            "name": "Cutis laxa, autosomal recessive, 1B",
            "description": "Cutis laxa, autosomal recessive, 1B"
        }
    ]
}