{
    "disease_id": "DOID:0060766",
    "recommended_name": {
        "id": "DOID:0060766",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060766",
        "name": "autosomal dominant Robinow syndrome 1",
        "description": "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p."
    },
    "synonyms": [
        {
            "id": "DOID:0060766",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060766",
            "name": "DRS1",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "autosomal dominant Robinow syndrome 1",
            "description": "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene."
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "DRS1",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "Robinow syndrome, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "WNT5A autosomal dominant Robinow syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "autosomal dominant Robinow syndrome caused by mutation in WNT5A",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "dysostosis acral with facial and genital abnormalities",
            "description": ""
        },
        {
            "id": "MONDO:0024455",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024455",
            "name": "foetal face syndrome",
            "description": ""
        },
        {
            "id": "MIM:180700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/180700",
            "name": "Robinow syndrome, autosomal dominant 1",
            "description": "Robinow syndrome, autosomal dominant 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060766"
    ],
    "unlinked_id_list": []
}