{
    "disease_id": "DOID:0111588",
    "recommended_name": {
        "id": "DOID:0111588",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111588",
        "name": "Greenberg dysplasia",
        "description": "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12."
    },
    "synonyms": [
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111588",
            "name": "GRBGD",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111588",
            "name": "Greenberg skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111588",
            "name": "HEM dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111588",
            "name": "Skeletal dysplasia, Greenberg type",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111588",
            "name": "hydrops-ectopic calcification-motheaten syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111588",
            "name": "hydrops, ectopic calcification, moth-eaten skeletal dysplasia",
            "description": ""
        },
        {
            "id": "DOID:0111588",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111588",
            "name": "autosomal recessive lethal chondrodystrophy with congenital hydrops",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "Greenberg dysplasia",
            "description": "lethality and affected fetuses are considered as nonviable."
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "skeletal dysplasia, Greenberg type",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "autosomal recessive lethal chondrodystrophy with congenital hydrops",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hydrops-ectopic calcification-moth-eaten skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "moth-eaten skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "chondrodystrophy, hydropic and prenatally lethal type",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "Greenberg skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "Greenberg dysplasia; GRBGD",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "Greenberg dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hem",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hem/Greenberg dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "GRBGD",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hem dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hem skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hydrops-ectopic calcification-motheaten syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008974",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008974",
            "name": "hydrops, ectopic calcification, moth-eaten skeletal dysplasia",
            "description": ""
        },
        {
            "id": "MIM:215140",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/215140",
            "name": "Greenberg dysplasia",
            "description": "Greenberg dysplasia"
        }
    ]
}