{
    "disease_id": "DOID:0081432",
    "recommended_name": {
        "id": "DOID:0081432",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081432",
        "name": "microcephaly-micromelia syndrome",
        "description": "A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder."
    },
    "synonyms": [
        {
            "id": "MONDO:0009619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009619",
            "name": "microcephaly-micromelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009619",
            "name": "microcephaly-micromelia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009619",
            "name": "MIMIS",
            "description": ""
        },
        {
            "id": "MIM:251230",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/251230",
            "name": "Microcephaly-micromelia syndrome",
            "description": "Microcephaly-micromelia syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081432"
    ],
    "unlinked_id_list": []
}