{
    "disease_id": "DOID:0070129",
    "recommended_name": {
        "id": "DOID:0070129",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070129",
        "name": "autosomal recessive cutis laxa type IID",
        "description": "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070129",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070129",
            "name": "ARCL2D",
            "description": ""
        },
        {
            "id": "MONDO:0027451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027451",
            "name": "autosomal recessive cutis laxa type 2D",
            "description": "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13."
        },
        {
            "id": "MONDO:0027451",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0027451",
            "name": "ARCL2D",
            "description": ""
        },
        {
            "id": "MIM:617403",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617403",
            "name": "Cutis laxa, autosomal recessive, 2D",
            "description": "Cutis laxa, autosomal recessive, 2D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070129"
    ],
    "unlinked_id_list": []
}