{
    "disease_id": "DOID:0111539",
    "recommended_name": {
        "id": "DOID:0111539",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111539",
        "name": "parastremmatic dwarfism",
        "description": "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111539",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111539",
            "name": "parastremmatic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008196",
            "name": "parastremmatic dwarfism",
            "description": "Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs."
        },
        {
            "id": "MONDO:0008196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008196",
            "name": "parastremmatic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0008196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008196",
            "name": "Parastremmatic dysplasia",
            "description": ""
        },
        {
            "id": "MIM:168400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/168400",
            "name": "Parastremmatic dwarfism",
            "description": "Parastremmatic dwarfism"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111539"
    ],
    "unlinked_id_list": []
}