{
    "disease_id": "DOID:0070140",
    "recommended_name": {
        "id": "DOID:0070140",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070140",
        "name": "autosomal recessive cutis laxa type IIC",
        "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."
    },
    "synonyms": [
        {
            "id": "MONDO:0027462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "name": "autosomal recessive cutis laxa type 2C",
            "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11."
        },
        {
            "id": "MONDO:0027462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "name": "ARCL2C",
            "description": ""
        },
        {
            "id": "MONDO:0027462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "name": "autosomal recessive cutis laxa type IIC",
            "description": ""
        },
        {
            "id": "MONDO:0027462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "name": "cutis laxa, autosomal recessive, type 2C",
            "description": ""
        },
        {
            "id": "MONDO:0027462",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027462",
            "name": "cutis laxa, autosomal recessive, type IIC",
            "description": ""
        },
        {
            "id": "MIM:617402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617402",
            "name": "Cutis laxa, autosomal recessive, 2C",
            "description": "Cutis laxa, autosomal recessive, 2C"
        }
    ]
}