{
    "disease_id": "DOID:0081431",
    "recommended_name": {
        "id": "DOID:0081431",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081431",
        "name": "microcephaly, short stature, and limb abnormalities",
        "description": "An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death."
    },
    "synonyms": [
        {
            "id": "DOID:0081431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081431",
            "name": "DONSON-related microcephaly-short stature-limb abnormalities spectrum",
            "description": ""
        },
        {
            "id": "MONDO:0060533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060533",
            "name": "microcephaly, short stature, and limb abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0060533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060533",
            "name": "microcephaly, short stature, and limb abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0060533",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060533",
            "name": "MISSLA",
            "description": ""
        },
        {
            "id": "MIM:617604",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617604",
            "name": "Microcephaly, short stature, and limb abnormalities",
            "description": "Microcephaly, short stature, and limb abnormalities"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081431"
    ],
    "unlinked_id_list": []
}