{
    "disease_id": "DOID:0111725",
    "recommended_name": {
        "id": "DOID:0111725",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111725",
        "name": "geleophysic dysplasia 1",
        "description": "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111725",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111725",
            "name": "GPHYSD1",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "geleophysic dysplasia 1",
            "description": "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene."
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "ADAMTSL2 geleophysic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "Geleophysic dysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "geleophysic dysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "geleophysic dysplasia caused by mutation in ADAMTSL2",
            "description": ""
        },
        {
            "id": "MONDO:0009269",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009269",
            "name": "GPHYSD1",
            "description": ""
        },
        {
            "id": "MIM:231050",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/231050",
            "name": "Geleophysic dysplasia 1",
            "description": "Geleophysic dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111725"
    ],
    "unlinked_id_list": []
}
