{
    "disease_id": "DOID:0050684",
    "recommended_name": {
        "id": "DOID:0050684",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050684",
        "name": "Bowen-Conradi syndrome",
        "description": "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13."
    },
    "synonyms": [
        {
            "id": "DOID:0050684",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050684",
            "name": "BWCNS",
            "description": ""
        },
        {
            "id": "DOID:0050684",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050684",
            "name": "Bowen Hutterite syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050684",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050684",
            "name": "Bowen-Conradi Hutterite syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen-Conradi syndrome",
            "description": "Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet."
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "BWCNS",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen Hutterite Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen Hutterite syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen Hutterite syndrome (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen Hutterite syndrome, formerly",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen syndrome, Hutterite type",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen-Conradi Hutterite syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008879",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008879",
            "name": "Bowen-Conradi syndrome",
            "description": ""
        },
        {
            "id": "MIM:211180",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211180",
            "name": "Bowen-Conradi syndrome",
            "description": "Bowen-Conradi syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050684"
    ],
    "unlinked_id_list": []
}