{
    "disease_id": "DOID:0080056",
    "recommended_name": {
        "id": "DOID:0080056",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080056",
        "name": "achondrogenesis type II",
        "description": "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis."
    },
    "synonyms": [
        {
            "id": "MONDO:0008702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008702",
            "name": "achondrogenesis type II",
            "description": "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage."
        },
        {
            "id": "MONDO:0008702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008702",
            "name": "achondrogenesis type II",
            "description": ""
        },
        {
            "id": "MONDO:0008702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008702",
            "name": "achondrogenesis, Langer-Saldino type",
            "description": ""
        },
        {
            "id": "MONDO:0008702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008702",
            "name": "achondrogenesis, type II or hypochondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0008702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008702",
            "name": "ACG2",
            "description": ""
        },
        {
            "id": "MONDO:0008702",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008702",
            "name": "achondrogenesis, type II",
            "description": ""
        },
        {
            "id": "MIM:200610",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/200610",
            "name": "Achondrogenesis 2",
            "description": "Achondrogenesis 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080056"
    ],
    "unlinked_id_list": []
}