{
    "disease_id": "DOID:0111514",
    "recommended_name": {
        "id": "DOID:0111514",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111514",
        "name": "metatropic dysplasia",
        "description": "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11."
    },
    "synonyms": [
        {
            "id": "DOID:0111514",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111514",
            "name": "metatropic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "metatropic dysplasia",
            "description": "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood."
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "Metatropic Dysplasia I",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "Metatropic dwarfism",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "metatropic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007986",
            "name": "Metatropic dysplasia, nonlethal dominant",
            "description": ""
        },
        {
            "id": "MIM:156530",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/156530",
            "name": "Metatropic dysplasia",
            "description": "Metatropic dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111514"
    ],
    "unlinked_id_list": []
}