{
    "disease_id": "DOID:0111508", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "platyspondylic dysplasia, Torrance type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "thanatophoric dysplasia, Torrance variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "thanatophoric dysplasia, Luton variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "Platyspondylic lethal skeletal dysplasia, Torrance type; PLSDT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "PLSD-T"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "Platyspondylic lethal skeletal dysplasia, Luton type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "PLSDT"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "Platyspondylic lethal skeletal dysplasia Torrance type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "lethal short-limbed Platyspondylic dwarfism Torrance type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "Platyspondylic dysplasia, Torrance-Luton type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "Platyspondylic lethal skeletal dysplasia, Torrance type"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "thanatophoric dysplasia Torrance variant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0007895", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0007895", 
            "name": "lethal short-limbed Platyspondylic dwarfism, Torrance type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111508", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111508", 
            "name": "PLSD-T"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111508", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111508", 
            "name": "PLSDT"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111508", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111508", 
            "name": "platyspondylic lethal skeletal dysplasia, Torrance type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111508", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111508", 
            "name": "platyspondylic dysplasia, Torrance-Luton type"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111508", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111508", 
            "name": "thanatophoric dysplasia, Torrance variant"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0111508", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0111508", 
            "name": "lethal short-limbed platyspondylic dwarfism, Torrance type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0111508", 
        "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 COL2A1 on chromosome 12q13.11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0111508", 
        "name": "Torrance type platyspondylic dysplasia"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0111508#disease-associations", 
            "id": "0111508", 
            "database": "Alliance of Genome Resources"
        }
    ]
}