{
    "disease_id": "DOID:0060288",
    "recommended_name": {
        "id": "DOID:0060288",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0060288",
        "name": "omodysplasia",
        "description": "An osteochondrodysplasia that is characterized by severe congenital shortening and distal tapering of the humeri and femori as well as cryptorchidism, congential heart defects, cognitive delay and dysmorphic facies, has_material_basis_in autosomal recessive inheritance of mutation in the GPC6 gene."
    },
    "synonyms": [
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "autosomal dominant omodysplasia",
            "description": "Autosomal dominant form of omodysplasia."
        },
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "OMOD2",
            "description": ""
        },
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "omodysplasia 2; OMOD2",
            "description": ""
        },
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "omodysplasia, autosomal dominant",
            "description": ""
        },
        {
            "id": "MONDO:0008123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008123",
            "name": "omodysplasia 2",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "autosomal recessive omodysplasia",
            "description": "Autosomal recessive form of omodysplasia."
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia, generalized form",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "micromelic dysplasia, congenital, with dislocation of radius",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia 1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "micromelic dysplasia congenita with dislocation of radius",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "OMOD1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia generalized form",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "omodysplasia 1; OMOD1",
            "description": ""
        },
        {
            "id": "MONDO:0009779",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009779",
            "name": "micromelic dysplasia-dislocation of radius syndrome",
            "description": ""
        },
        {
            "id": "MIM:164745",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/164745",
            "name": "Omodysplasia 2",
            "description": "Omodysplasia 2"
        },
        {
            "id": "MIM:258315",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/258315",
            "name": "Omodysplasia 1",
            "description": "Omodysplasia 1"
        }
    ]
}
