{
    "disease_id": "DOID:0111508",
    "recommended_name": {
        "id": "DOID:0111508",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111508",
        "name": "Torrance type platyspondylic dysplasia",
        "description": "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111508",
            "name": "PLSD-T",
            "description": ""
        },
        {
            "id": "DOID:0111508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111508",
            "name": "PLSDT",
            "description": ""
        },
        {
            "id": "DOID:0111508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111508",
            "name": "platyspondylic lethal skeletal dysplasia, Torrance type",
            "description": ""
        },
        {
            "id": "DOID:0111508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111508",
            "name": "platyspondylic dysplasia, Torrance-Luton type",
            "description": ""
        },
        {
            "id": "DOID:0111508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111508",
            "name": "thanatophoric dysplasia, Torrance variant",
            "description": ""
        },
        {
            "id": "DOID:0111508",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111508",
            "name": "lethal short-limbed platyspondylic dwarfism, Torrance type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "platyspondylic dysplasia, Torrance type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "PLSD-T",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "Platyspondylic dysplasia, Torrance-Luton type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "Platyspondylic lethal skeletal dysplasia, Torrance type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "platyspondylic dysplasia, Torrance type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "platyspondylic skeletal dysplasia, Torrance type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "PLSDT",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "Platyspondylic lethal skeletal dysplasia Torrance type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "lethal short-limbed Platyspondylic dwarfism Torrance type",
            "description": ""
        },
        {
            "id": "MONDO:0007895",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007895",
            "name": "thanatophoric dysplasia Torrance variant",
            "description": ""
        },
        {
            "id": "MIM:151210",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/151210",
            "name": "Platyspondylic lethal skeletal dysplasia Torrance type",
            "description": "Platyspondylic lethal skeletal dysplasia Torrance type"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111508"
    ],
    "unlinked_id_list": []
}