{
    "disease_id": "DOID:0070132",
    "recommended_name": {
        "id": "DOID:0070132",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070132",
        "name": "autosomal recessive cutis laxa type IIIA",
        "description": "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24."
    },
    "synonyms": [
        {
            "id": "DOID:0070132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070132",
            "name": "ARCL3A",
            "description": ""
        },
        {
            "id": "DOID:0070132",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070132",
            "name": "De Barsy syndrome A",
            "description": ""
        },
        {
            "id": "MONDO:0009053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009053",
            "name": "ALDH18A1-related de Barsy syndrome",
            "description": "ALDH18A1-related De Barsy syndrome combines intellectual deficit, bilateral cataracts, and skin and joint hyperlaxity."
        },
        {
            "id": "MONDO:0009053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009053",
            "name": "P5CS deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009053",
            "name": "ARCL3A",
            "description": ""
        },
        {
            "id": "MONDO:0009053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009053",
            "name": "Delta-1-pyrroline 5-carboxylate synthetase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009053",
            "name": "neurocutaneous syndrome, Bicknell type",
            "description": ""
        },
        {
            "id": "MONDO:0009053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009053",
            "name": "cutis laxa, autosomal recessive, type IIIA",
            "description": ""
        },
        {
            "id": "MONDO:0009053",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009053",
            "name": "cutis laxa, corneal clouding, and mental retardation",
            "description": ""
        },
        {
            "id": "MIM:219150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/219150",
            "name": "Cutis laxa, autosomal recessive, 3A",
            "description": "Cutis laxa, autosomal recessive, 3A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070132"
    ],
    "unlinked_id_list": []
}