{
    "disease_id": "DOID:0061274",
    "recommended_name": {
        "id": "DOID:0061274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061274",
        "name": "Weill-Marchesani syndrome 2",
        "description": "A Weill-Marchesani syndrome that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "Weill-Marchesani syndrome 2, dominant",
            "description": "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome."
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "mesodermal Dysmorphodystrophy, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "spherophakia-brachymorphia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "GEMSS",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "GEMSS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "WMS2",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "Weill-Marchesani syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "Weill-Marchesani syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "Weill-Marchesani syndrome, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012013",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012013",
            "name": "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome",
            "description": ""
        },
        {
            "id": "MIM:608328",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608328",
            "name": "Weill-Marchesani syndrome 2",
            "description": "Weill-Marchesani syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061274"
    ],
    "unlinked_id_list": []
}