{
    "disease_id": "DOID:0050775",
    "recommended_name": {
        "id": "DOID:0050775",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050775",
        "name": "schneckenbecken dysplasia",
        "description": "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "schneckenbecken dysplasia",
            "description": "Schneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia."
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "chondrodysplasia, lethal neonatal, with snail-like pelvis",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "SHNKND",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "chondrodysplasia lethal neonatal with snail like pelvis",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "SLC35D1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "schneckenbecken dysplasia; SHNKND",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "chondrodysplasia with snail-like pelvis",
            "description": ""
        },
        {
            "id": "MONDO:0010013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010013",
            "name": "schneckenbecken dysplasia",
            "description": ""
        },
        {
            "id": "MIM:269250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/269250",
            "name": "Schneckenbecken dysplasia",
            "description": "Schneckenbecken dysplasia"
        }
    ]
}