{
    "disease_id": "DOID:0080041",
    "recommended_name": {
        "id": "DOID:0080041",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080041",
        "name": "hypochondroplasia",
        "description": "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism."
    },
    "synonyms": [
        {
            "id": "MONDO:0007793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007793",
            "name": "hypochondroplasia",
            "description": "Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints."
        },
        {
            "id": "MONDO:0007793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007793",
            "name": "hypochondroplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007793",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007793",
            "name": "HCH",
            "description": ""
        },
        {
            "id": "MIM:146000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/146000",
            "name": "Hypochondroplasia",
            "description": "Hypochondroplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080041"
    ],
    "unlinked_id_list": []
}