{
    "disease_id": "DOID:0111243",
    "recommended_name": {
        "id": "DOID:0111243",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111243",
        "name": "acromicric dysplasia",
        "description": "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111243",
            "name": "ACMICD",
            "description": ""
        },
        {
            "id": "DOID:0111243",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111243",
            "name": "acromicric skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007055",
            "name": "Acromicric dysplasia",
            "description": "A rare bone dysplasia characterized by short stature, short hands and feet, mild facial dysmorphism, and characteristic X-ray abnormalities of the hands."
        },
        {
            "id": "MONDO:0007055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007055",
            "name": "Acromicric dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0007055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007055",
            "name": "ACMICD",
            "description": ""
        },
        {
            "id": "MONDO:0007055",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007055",
            "name": "Acromicric skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:102370",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/102370",
            "name": "Acromicric dysplasia",
            "description": "Acromicric dysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111243"
    ],
    "unlinked_id_list": []
}