{
    "disease_id": "DOID:0070139",
    "recommended_name": {
        "id": "DOID:0070139",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070139",
        "name": "autosomal recessive cutis laxa type IC",
        "description": "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070139",
            "name": "ARCL1C",
            "description": ""
        },
        {
            "id": "DOID:0070139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070139",
            "name": "autosomal recessive cutis laxa type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies",
            "description": "A autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13"
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "ARCL1C",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "Urban-Rifkin-Davis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "autosomal recessive cutis laxa type 1C",
            "description": ""
        },
        {
            "id": "MONDO:0013170",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013170",
            "name": "cutis laxa, autosomal recessive, type IC",
            "description": ""
        },
        {
            "id": "MIM:613177",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613177",
            "name": "Urban-Rifkin-Davis syndrome",
            "description": "Urban-Rifkin-Davis syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070139"
    ],
    "unlinked_id_list": []
}