{
    "disease_id": "DOID:0112303",
    "recommended_name": {
        "id": "DOID:0112303",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112303",
        "name": "spondylometaphyseal dysplasia with corneal dystrophy",
        "description": "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112303",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112303",
            "name": "SMDCD",
            "description": ""
        },
        {
            "id": "MONDO:0030074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030074",
            "name": "spondylometaphyseal dysplasia with corneal dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0030074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030074",
            "name": "SMDCD",
            "description": ""
        },
        {
            "id": "MONDO:0030074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030074",
            "name": "SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY",
            "description": ""
        },
        {
            "id": "MONDO:0030074",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030074",
            "name": "spondylometaphyseal dysplasia with corneal dystrophy",
            "description": ""
        },
        {
            "id": "MIM:618961",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618961",
            "name": "Spondylometaphyseal dysplasia with corneal dystrophy",
            "description": "Spondylometaphyseal dysplasia with corneal dystrophy"
        }
    ]
}