{
    "disease_id": "DOID:0070134",
    "recommended_name": {
        "id": "DOID:0070134",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070134",
        "name": "autosomal recessive cutis laxa type IIA",
        "description": "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070134",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070134",
            "name": "ARCL2A",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "autosomal recessive cutis laxa type 2A",
            "description": "An autosomal recessive cutis laxa type II classic type that has material basis in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24."
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "ARCL2A",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "autosomal recessive cutis laxa type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "autosomal recessive cutis laxa type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa with Joint laxity and retarded development",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa with bone dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa with congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa with growth and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa, autosomal recessive type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa, autosomal recessive, type 2A",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa, autosomal recessive, type IIA",
            "description": ""
        },
        {
            "id": "MONDO:0018163",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018163",
            "name": "cutis laxa, debre type",
            "description": ""
        },
        {
            "id": "MIM:219200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219200",
            "name": "Cutis laxa, autosomal recessive, 2A",
            "description": "Cutis laxa, autosomal recessive, 2A"
        }
    ]
}