{
    "disease_id": "DOID:0080055",
    "recommended_name": {
        "id": "DOID:0080055",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080055",
        "name": "achondrogenesis type IB",
        "description": "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen."
    },
    "synonyms": [
        {
            "id": "DOID:0080055",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080055",
            "name": "achondrogenesis Fraccaro type",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis type IB",
            "description": "Achondrogenesis type 1B (ACG1B), a form of achondrogenesis (see this term), is a rare lethal skeletal dysplasia characterized by severe micromelia with very short fingers and toes, a flat face, a short neck, thickened soft tissue around the neck, hypoplasia of the thorax, protuberant abdomen, a hydropic fetal appearance and distinctive histological features of the cartilage."
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis, type IB; ACG1B",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "ACG1B",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis, Fraccaro type",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "Fraccaro achondrogenesis",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis, Parenti-Fraccaro type",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis, type IB",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis, type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0010966",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010966",
            "name": "achondrogenesis Fraccaro type",
            "description": ""
        },
        {
            "id": "MIM:600972",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600972",
            "name": "Achondrogenesis 1B",
            "description": "Achondrogenesis 1B"
        }
    ]
}