{
    "disease_id": "DOID:0050475",
    "recommended_name": {
        "id": "DOID:0050475",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0050475",
        "name": "Weill-Marchesani syndrome",
        "description": "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities."
    },
    "synonyms": [
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050475",
            "name": "GEMSS syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050475",
            "name": "Marchesani-Weill Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050475",
            "name": "Mesodermal Dysmorphodystrophy, Congenital",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050475",
            "name": "Spherophakia Brachymorphia Syndrome",
            "description": ""
        },
        {
            "id": "DOID:0050475",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0050475",
            "name": "congenital mesodermal dystrophy",
            "description": ""
        },
        {
            "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": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome 1",
            "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene."
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "ADAMTS10 Weill-Marchesani syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome 1, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome caused by mutation in ADAMTS10",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "WMS1",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "Weill-Marchesani syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "mesodermal Dysmorphodystrophy, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0010194",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010194",
            "name": "spherophakia-brachymorphia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "Weill-Marchesani 4 syndrome, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "15q26.3 microdeletion syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "WMS4",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "Weill-Marchesani syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "Weill-Marchesani-like syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013176",
            "name": "ichthyosis-short stature-brachydactyly-microspherophakia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome 3",
            "description": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene."
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "LTBP2 Weill-Marchesani syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome 3, recessive",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome caused by mutation in LTBP2",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "Weill-Marchesani syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013899",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013899",
            "name": "WMS3",
            "description": ""
        },
        {
            "id": "MIM:608328",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608328",
            "name": "Weill-Marchesani syndrome 2",
            "description": "Weill-Marchesani syndrome 2"
        },
        {
            "id": "MIM:277600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/277600",
            "name": "Weill-Marchesani syndrome 1",
            "description": "Weill-Marchesani syndrome 1"
        },
        {
            "id": "MIM:613195",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613195",
            "name": "Weill-Marchesani syndrome 4",
            "description": "Weill-Marchesani syndrome 4"
        },
        {
            "id": "MIM:614819",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614819",
            "name": "Weill-Marchesani syndrome 3",
            "description": "Weill-Marchesani syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050475"
    ],
    "unlinked_id_list": []
}